Svati Hasmukh Shah

Journal Article J Clin Pharmacol · November 2025 Recognition of benefits and adverse effects of therapies in earlier clinical trial phases could improve the safety, efficiency, and cost of clinical trials. Using four clinical trials representing a diverse set of diseases and drug classes (EXSCEL: exenati ... Full text Link to item Cite

Sex-Specific Prognostic Value of Quantifying Coronary Plaque in Patients With Stable Chest Pain: Insights From the PROMISE Trial.

Journal Article JACC. Cardiovascular imaging · November 2025 Full text Cite

Digital Strategies for Recruitment to Improve Diversity and Inclusion in Prospective Cardiovascular Clinical Research.

Journal Article Cardiol Ther · October 16, 2025 INTRODUCTION: Cardiovascular trials often underrepresent non-White participants, women, and older individuals. METHODS: We evaluated the impact of digital recruitment on improving diversity in two large prospective cardiovascular studies: the Apple Heart S ... Full text Link to item Cite

Accelerated transcriptomic age and susceptibility to traffic-related air pollution among cardiac catheterization patients.

Journal Article Sci Total Environ · October 15, 2025 BACKGROUND: Accelerated transcriptomic and/or epigenetic age have been proposed as biomarkers of disrupted systemic health and of increased sensitivity to environmental exposures. Previously, we observed epigenetic age acceleration as a biomarker of sensit ... Full text Link to item Cite

Survival After Initial Stress Testing vs Anatomic Testing in Suspected Coronary Artery Disease: Long-Term Follow-Up of the PROMISE Randomized Clinical Trial.

Journal Article JAMA Cardiol · October 1, 2025 IMPORTANCE: Symptoms suggestive of coronary artery disease (CAD) often require noninvasive testing for diagnostic and prognostic evaluation. OBJECTIVE: To determine long-term outcomes in patients randomized to functional (stress) vs anatomic (coronary comp ... Full text Link to item Cite

CARS2 Hypermethylation Is a Risk Factor for Heart Failure: A Project Baseline Health Substudy.

Journal Article Circ Genom Precis Med · October 2025 Full text Link to item Cite

Deep learning chest X-ray age, epigenetic aging clocks, and associations with age-related subclinical disease in the Project Baseline Health Study.

Journal Article J Gerontol A Biol Sci Med Sci · September 19, 2025 BACKGROUND: Chronological age is an important component of medical risk scores and decision-making. However, there is considerable variability in how individuals age. We recently published an open-source deep learning model to assess biological age from ch ... Full text Link to item Cite

Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.

Journal Article Genome Biol · September 9, 2025 BACKGROUND: Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohort ... Full text Link to item Cite

Proteomic pathways across the ejection fraction spectrum in patients with heart failure and diabetes mellitus: an EXSCEL trial substudy.

Journal Article Sci Rep · August 18, 2025 Ejection fraction (EF) is a key component of heart failure (HF) classification. However, the biologic basis of HF with mildly reduced EF (HFmrEF) as a distinct biologic entity distinct from HF with preserved EF (HFpEF) and reduced EF (HFrEF) has not been w ... Full text Link to item Cite

Development and Validation of a Predictive Model for Maternal Cardiovascular Morbidity Events in Patients With Hypertensive Disorders of Pregnancy.

Journal Article Anesthesia and analgesia · August 2025 BackgroundHypertensive disorders of pregnancy (HDP) are a major contributor to maternal morbidity, mortality, and accelerated cardiovascular (CV) disease. Comorbid conditions are likely important predictors of CV risk in pregnant people. Currently ... Full text Cite

Returning Individual-Level Urgent or Emergent Research Results to Participants: The Project Baseline Health Study Experience.

Journal Article Am J Med Open · June 2025 BACKGROUND: Returning results to research participants is increasingly recognized as an ethical mandate, yet little is known about best practices to optimally communicate urgent or emergent results. METHODS: We describe the development of and experience wi ... Full text Link to item Cite

Emerging Technologies and Future Directions in Interorgan Crosstalk Cardiometabolic Research.

Journal Article Circ Res · May 23, 2025 The heart does not work in isolation, with cardiac health and disease occurring through complex interactions between the heart with multiple organs. Furthermore, the integration of organ-specific lipid metabolism, blood pressure, insulin sensitivity, and i ... Full text Link to item Cite

Principles for the Future of Biomedical Research in the United States and Optimizing the National Institutes of Health: A Presidential Advisory From the American Heart Association.

Journal Article Circulation · April 8, 2025 Groundbreaking achievements in science and medicine have contributed to reductions in cardiovascular disease and stroke mortality over the past 7 decades. Many of these advances were supported through investments by the National Institutes of Health, the g ... Full text Link to item Cite

Correction to: Principles for the Future of Biomedical Research in the United States and Optimizing the National Institutes of Health: A Presidential Advisory From the American Heart Association.

Journal Article Circulation · April 8, 2025 Full text Link to item Cite

Response to Comments on Maddaloni et al. Osteoprotegerin, Osteopontin, and Osteocalcin Are Associated With Cardiovascular Events in Type 2 Diabetes: Insights From EXSCEL. Diabetes Care 2025;48:235-242.

Journal Article Diabetes Care · April 1, 2025 Full text Link to item Cite

Metabolic and Pharmacokinetic Profiling of a Ketone Ester by Background SGLT2 Inhibitor Therapy in HFrEF.

Journal Article JACC Basic Transl Sci · March 2025 Growing evidence supports therapeutic ketosis in heart failure with reduced ejection fraction, though uncertainty exists regarding use with SGLT2i and dose-dependent effects. In a phase I trial of 2 ketone ester (KE) doses in 20 heart failure with reduced ... Full text Link to item Cite

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.

Journal Article Nat Genet · March 2025 Atrial fibrillation (AF) is a prevalent and morbid abnormality of the heart rhythm with a strong genetic component. Here, we meta-analyzed genome and exome sequencing data from 36 studies that included 52,416 AF cases and 277,762 controls. In burden tests ... Full text Link to item Cite

Using Parks and Recreation Providers to Enhance Obesity Treatment: A Randomized Controlled Trial.

Journal Article Pediatrics · February 10, 2025 OBJECTIVE: Intensive health behavior and lifestyle treatment (IHBLT) is recommended for children aged 6-18 years with obesity. The objective was to evaluate the effectiveness of Fit Together, a health care and parks and recreation partnership to deliver IH ... Full text Link to item Cite

Coronary Artery Disease and Major Adverse Cardiovascular Events in People With Hepatic Steatosis at Low Atherosclerotic Cardiovascular Disease Risk.

Journal Article Aliment Pharmacol Ther · February 2025 BACKGROUND: Hepatic steatosis (HS) and 10-year atherosclerotic cardiovascular disease (ASCVD) risk ≥ 7.5% are associated with increased risk for cardiovascular events. AIM: To assess underlying coronary artery disease (CAD) and major adverse cardiovascular ... Full text Link to item Cite

Osteoprotegerin, Osteopontin, and Osteocalcin Are Associated With Cardiovascular Events in Type 2 Diabetes: Insights From EXSCEL.

Journal Article Diabetes Care · February 1, 2025 OBJECTIVE: To evaluate the association of four bone metabolism biomarkers (osteoprotegerin, osteopontin, sclerostin, and osteocalcin) with cardiovascular events in people with type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS: The Exenatide Study of Cardi ... Full text Link to item Cite

CHIP-ing Away at Post-Transplant Outcomes: the Role of Somatic Mutations in Heart Transplant Outcomes.

Journal Article J Card Fail · February 2025 Full text Link to item Cite

Abnormal Exercise Electrocardiography With Normal Stress Echocardiography Is Associated With Subclinical Coronary Atherosclerosis.

Journal Article Circ Cardiovasc Imaging · February 2025 BACKGROUND: Patients with abnormal (positive) exercise electrocardiography, but normal stress echocardiography (+ECG/-Echo), have an increased risk of adverse cardiovascular events compared with patients with a normal (negative) ECG and a normal stress Ech ... Full text Link to item Cite

Should We Systematically Screen for the Amyloidogenic V142I Variant?

Journal Article J Card Fail · January 2025 Is it time to employ systematic genetic screening for V142I transthyretin cardiac amyloidosis? Strategic research programs are needed to fill evidence gaps before meaningful and equitable implementation can begin to reduce health disparities and improve mo ... Full text Link to item Cite

The impact of common and rare genetic variants on bradyarrhythmia development.

Journal Article Nat Genet · January 2025 To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), ... Full text Link to item Cite

Air pollution, coronary artery disease, and cardiovascular events: Insights from the PROMISE trial.

Journal Article J Cardiovasc Comput Tomogr · 2025 BACKGROUND: Air pollution is associated with mortality and major adverse cardiovascular events (MACE) in the general population. However, little is known about the relationship between air pollution and coronary artery disease (CAD) and how this relates to ... Full text Link to item Cite

Retention and characteristics associated with remote questionnaire completion in a general population cohort study: the project baseline health study.

Journal Article Front Digit Health · 2025 OBJECTIVE: To evaluate remote participant engagement in a clinical study over time, based on data from the Project Baseline Health Study (PBHS), a hybrid in-person and virtual study. METHODS: The PBHS enrolled 2,502 adult US residents from March 3, 2017 to ... Full text Link to item Cite

Comprehensive Comparison of a Genotype-Forward vs. Phenotype-Forward Approach for Monogenic Cardiovascular Diseases in the UK Biobank Cohort

Preprint · 2025 Full text Cite

Resting Heart Rate and Associations With Clinical Measures From the Project Baseline Health Study: Observational Study.

Journal Article J Med Internet Res · December 20, 2024 BACKGROUND: Though widely used, resting heart rate (RHR), as measured by a wearable device, has not been previously evaluated in a large cohort against a variety of important baseline characteristics. OBJECTIVE: This study aimed to assess the validity of t ... Full text Link to item Cite

Gene Therapy in Cardiovascular Disease: Recent Advances and Future Directions in Science: A Science Advisory From the American Heart Association.

Journal Article Circulation · December 3, 2024 Cardiovascular disease remains the foremost cause of morbidity and mortality globally, affecting millions of individuals. Recent discoveries illuminate the substantial role of genetics in cardiovascular disease pathogenesis, encompassing both monogenic and ... Full text Link to item Cite

Cardiovascular Disease Pathogenicity Predictor (CVD-PP): A Tissue-Specific In Silico Tool for Discriminating Pathogenicity of Variants of Unknown Significance in Cardiovascular Disease Genes.

Journal Article Circulation. Genomic and precision medicine · December 2024 BackgroundInterpretation of variants of uncertain significance (VUSs) remains a challenge in the care of patients with inherited cardiovascular diseases (CVDs); 56% of variants within CVD risk genes are VUS, and machine learning algorithms trained ... Full text Cite

Association Between Lipoprotein(a) and Obstructive Coronary Artery Disease and High-Risk Plaque: Insights From the PROMISE Trial.

Journal Article Am J Cardiol · November 15, 2024 The role of lipoprotein (a) (Lp[a]) in the development of obstructive coronary artery disease (CAD) and high-risk plaque (HRP) in primary prevention patients with stable chest pain is unknown. We sought to evaluate the relation of Lp(a), independent of low ... Full text Link to item Cite

Real-world walking behaviors are associated with early-stage heart failure: a Project Baseline Health Study.

Journal Article J Card Fail · November 2024 BACKGROUND: Data collected via wearables may complement in-clinic assessments to monitor subclinical heart failure (HF). OBJECTIVES: Evaluate the association of sensor-based digital walking measures with HF stage and characterize their correlation with in- ... Full text Link to item Cite

Metabolic Effects of the SGLT2 Inhibitor Dapagliflozin in Heart Failure Across the Spectrum of Ejection Fraction.

Journal Article Circ Heart Fail · November 2024 BACKGROUND: Mechanisms of benefit with SGLT2is (sodium-glucose cotransporter-2 inhibitors) in heart failure (HF) remain incompletely characterized. Dapagliflozin alters ketone and fatty acid metabolism in HF with reduced ejection fraction though similar ef ... Full text Link to item Cite

Inflammatory proteins associated with Alzheimer's disease reduced by a GLP1 receptor agonist: a post hoc analysis of the EXSCEL randomized placebo controlled trial.

Journal Article Alzheimers Res Ther · October 2, 2024 BACKGROUND: Glucagon-like peptide-1 receptor agonists are a viable option for the prevention of Alzheimer's disease (AD) but the mechanisms of this potential disease modifying action are unclear. We investigated the effects of once-weekly exenatide (EQW) o ... Full text Link to item Cite

Characterization of peripheral artery disease and associations with traditional risk factors, mobility, and biomarkers in the project baseline health study.

Journal Article Am Heart J · September 2024 BACKGROUND: There is a dearth of research on immunophenotyping in peripheral artery disease (PAD). This study aimed to describe the baseline characteristics, immunophenotypic profile, and quality of life (QoL) of participants with PAD in the Project Baseli ... Full text Link to item Cite

Towards Metabolomic-Based Precision Approaches for Classifying and Treating Heart Failure.

Journal Article JACC Basic Transl Sci · September 2024 Both heart failure and cardiometabolic disease are on the rise, and abnormal cardiac and peripheral metabolism are central to the syndrome of heart failure. Advances in metabolomic profiling have improved our understanding of the heart's metabolic flexibil ... Full text Link to item Cite

Lipoprotein(a) and Coronary Plaque in Asymptomatic Individuals: The Miami Heart Study at Baptist Health South Florida.

Journal Article Circ Cardiovasc Imaging · July 2024 BACKGROUND: Elevated levels of lipoprotein(a) (Lp(a)) are independently associated with an increased risk of atherosclerotic cardiovascular disease events. However, the mechanisms driving this association are poorly understood. We aimed to evaluate the ass ... Full text Link to item Cite

Cardiovascular Burden of the V142I Transthyretin Variant.

Journal Article JAMA · June 4, 2024 IMPORTANCE: Individual cohort studies concur that the amyloidogenic V142I variant of the transthyretin (TTR) gene, present in 3% to 4% of US Black individuals, increases heart failure (HF) and mortality risk. Precisely defining carrier risk across relevant ... Full text Link to item Cite

Relationship between body mass index and cardiometabolic health in a multi-ethnic population: A project baseline health study.

Journal Article Am J Prev Cardiol · June 2024 OBJECTIVE: Obesity is associated with a higher risk of cardiovascular disease. Understanding the associations between comprehensive health parameters and body mass index (BMI) may lead to targeted prevention efforts. METHODS: Project Baseline Health Study ... Full text Link to item Cite

Targeted Metabolomic Profiling of Dapagliflozin in Heart Failure With Preserved Ejection Fraction: The PRESERVED-HF Trial.

Journal Article JACC Heart Fail · June 2024 BACKGROUND: Although sodium glucose co-transporter 2 inhibitors (SGLT2is) improve heart failure (HF)-related symptoms and outcomes in HF with preserved ejection fraction (HFpEF), underlying mechanisms remain unclear. In HF with reduced EF, dapagliflozin al ... Full text Link to item Cite

Proteomics discovery in children and young adults with HIV identifies fibrosis, inflammatory, and immune biomarkers associated with myocardial impairment.

Journal Article AIDS · June 1, 2024 People with HIV are at increased risk of cardiac dysfunction; however, limited tools are available to identify patients at highest risk for future cardiac disease. We performed proteomic profiling using plasma samples from children and young adults with pe ... Full text Link to item Cite

Lipoprotein subclasses are associated with Hepatic steatosis: insights from the prospective multicenter imaging study for the evaluation of chest pain (PROMISE) clinical trial.

Journal Article Am J Prev Cardiol · June 2024 OBJECTIVES: To determine the relationship between lipoprotein particle size/number with hepatic steatosis (HS), given its association with traditional lipoproteins and coronary atherosclerosis. METHODS: Individuals with available CT data and blood samples ... Full text Link to item Cite

Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias.

Journal Article Circ Genom Precis Med · June 2024 BACKGROUND: Substantial data support a heritable basis for supraventricular tachycardias, but the genetic determinants and molecular mechanisms of these arrhythmias are poorly understood. We sought to identify genetic loci associated with atrioventricular ... Full text Link to item Cite

Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.

Journal Article Nat Genet · June 2024 Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of genome-wide asso ... Full text Link to item Cite

Maternal Morbidity According to Mode of Delivery Among Pregnant Patients With Pulmonary Hypertension.

Journal Article Anesth Analg · May 1, 2024 BACKGROUND: Patients with pulmonary hypertension have a high risk of maternal morbidity and mortality. It is unknown if a trial of labor carries a lower risk of morbidity in these patients compared to a planned cesarean delivery. The objective of this stud ... Full text Link to item Cite

Metabolomic profiling during ex situ normothermic perfusion before heart transplantation defines patterns of substrate utilization and correlates with markers of allograft injury.

Conference J Heart Lung Transplant · May 2024 BACKGROUND: Cardiac metabolism is altered in heart failure and ischemia-reperfusion injury states. We hypothesized that metabolomic profiling during ex situ normothermic perfusion before heart transplantation (HT) would lend insight into myocardial substra ... Full text Link to item Cite

Associations among NMR-measured inflammatory and metabolic biomarkers and accelerated aging in cardiac catheterization patients.

Journal Article Aging (Albany NY) · April 23, 2024 Research into aging has grown substantially with the creation of molecular biomarkers of biological age that can be used to determine age acceleration. Concurrently, nuclear magnetic resonance (NMR) assessment of biomarkers of inflammation and metabolism p ... Full text Link to item Cite

Sifting for Gold in Terabytes of Data: Illuminating Cardiovascular Biology in the 'Omics Age.

Journal Article Circulation · April 23, 2024 Full text Link to item Cite

A Customizable and Peer-Reviewed Curriculum for Cardiovascular Genetics and Genomics.

Journal Article Circulation · March 19, 2024 Full text Link to item Cite

Physical activity and sleep changes among children during the COVID-19 pandemic.

Journal Article NPJ Digit Med · March 16, 2024 Daily routines, including in-person school and extracurricular activities, are important for maintaining healthy physical activity and sleep habits in children. The COVID-19 pandemic significantly disrupted daily routines as in-person school and activities ... Full text Link to item Cite

Diffuse myocardial fibrosis is uncommon in people with perinatally acquired human immunodeficiency virus infection.

Journal Article AIDS Res Ther · March 4, 2024 BACKGROUND: Cardiovascular disease (CVD) remains a leading cause of death in people living with HIV. Myocardial fibrosis is well-described in HIV infection acquired in adulthood. We evaluate the burden of fibrosis by cardiac magnetic resonance in people wi ... Full text Link to item Cite

Metabolic Risk Score in Heart Failure: Fuel for Thought?

Journal Article JACC Heart Fail · February 2024 Full text Link to item Cite

Metabolite signature of diabetes remission in individuals with obesity undergoing weight loss interventions.

Journal Article Obesity (Silver Spring) · February 2024 OBJECTIVE: This observational study investigated metabolomic changes in individuals with type 2 diabetes (T2D) after weight loss. We hypothesized that metabolite changes associated with T2D-relevant phenotypes are signatures of improved health. METHODS: Fa ... Full text Link to item Cite

Pregnancy-related outcomes in obstetric patients with pulmonary hypertension: a single-center retrospective cohort study.

Journal Article Int J Obstet Anesth · February 2024 Full text Link to item Cite

Severe Maternal Morbidity According to Mode of Delivery Among Pregnant Patients With Cardiomyopathies.

Journal Article JACC Heart Fail · December 2023 BACKGROUND: Women with cardiomyopathies are at risk for pregnancy complications. The optimal mode of delivery in these patients is guided by expert opinion and limited small studies. OBJECTIVES: The objective of this study is to examine the association of ... Full text Link to item Cite

Next Generation, Modifiable Cardiometabolic Biomarkers: Mitochondrial Adaptation and Metabolic Resilience: A Scientific Statement From the American Heart Association.

Journal Article Circulation · November 28, 2023 Cardiometabolic risk is increasing in prevalence across the life span with disproportionate ramifications for youth at socioeconomic disadvantage. Established risk factors and associated disease progression are harder to reverse as they become entrenched o ... Full text Link to item Cite

Clinical and Echocardiographic Diversity Associated With Physical Fitness in the Project Baseline Health Study: Implications for Heart Failure Staging.

Journal Article J Card Fail · November 2023 BACKGROUND: Clinical and echocardiographic features may carry diverse information about the development of heart failure (HF). Therefore, we determined heterogeneity in clinical and echocardiographic phenotypes and its association with exercise capacity. M ... Full text Link to item Cite

Inhaled Epoprostenol Compared With Nitric Oxide for Right Ventricular Support After Major Cardiac Surgery.

Journal Article Circulation · October 24, 2023 BACKGROUND: Right ventricular failure (RVF) is a leading driver of morbidity and death after major cardiac surgery for advanced heart failure, including orthotopic heart transplantation and left ventricular assist device implantation. Inhaled pulmonary-sel ... Full text Open Access Link to item Cite

Coronary Atherosclerosis Across the Glycemic Spectrum Among Asymptomatic Adults: The Miami Heart Study at Baptist Health South Florida.

Journal Article Circ Cardiovasc Imaging · October 2023 BACKGROUND: The contemporary burden and characteristics of coronary atherosclerosis, assessed using coronary computed tomography angiography (CCTA), is unknown among asymptomatic adults with diabetes and prediabetes in the United States. The pooled cohort ... Full text Link to item Cite

Mitochondrial metabolites predict adverse cardiovascular events in individuals with diabetes.

Journal Article JCI Insight · September 8, 2023 Metabolic mechanisms underlying the heterogeneity of major adverse cardiovascular (CV) event (MACE) risk in individuals with type 2 diabetes mellitus (T2D) remain unclear. We hypothesized that circulating metabolites reflecting mitochondrial dysfunction pr ... Full text Link to item Cite

Creatine and creatinine quantified using nuclear magnetic resonance: A method validation study and clinical associations between circulating creatine and fatigue in kidney transplant recipients.

Journal Article Clin Chim Acta · August 1, 2023 BACKGROUND: A potential contributor to fatigue in kidney transplant recipients (KTR) may be impaired creatine homeostasis. We developed and validated a high-throughput NMR assay allowing for simultaneous measurement of circulating creatine and creatinine, ... Full text Link to item Cite

Epidemiology of Diabetes and Atherosclerotic Cardiovascular Disease Among Asian American Adults: Implications, Management, and Future Directions: A Scientific Statement From the American Heart Association.

Journal Article Circulation · July 4, 2023 Asian American individuals make up the fastest growing racial and ethnic group in the United States. Despite the substantial variability that exists in type 2 diabetes and atherosclerotic cardiovascular disease risk among the different subgroups of Asian A ... Full text Link to item Cite

Prognostic value of CT-derived coronary artery disease characteristics varies by ASCVD risk: insights from the PROMISE trial.

Journal Article Eur Radiol · July 2023 OBJECTIVES: To compare the prognostic value of individual CT-derived coronary artery disease (CAD) characteristics across categories of clinical cardiovascular risk. METHODS: The central core laboratory assessed coronary artery calcium (CAC), obstructive C ... Full text Link to item Cite

Branched-Chain Amino Acids in Computed Tomography-Defined Adipose Depots and Coronary Artery Disease: A PROMISE Trial Biomarker Substudy.

Journal Article J Am Heart Assoc · June 6, 2023 Background The interplay between branched-chain amino acid (BCAA) metabolism, an important pathway in adiposity and cardiometabolic disease, and visceral adipose depots such as hepatic steatosis (HS) and epicardial adipose tissue is unknown. We leveraged t ... Full text Link to item Cite

Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy.

Journal Article Circ Genom Precis Med · June 2023 BACKGROUND: Epigenetic clocks estimate chronologic age using methylation levels at specific loci. We tested the hypothesis that accelerated epigenetic aging is associated with abnormal values in a range of clinical, imaging, and laboratory characteristics. ... Full text Link to item Cite

American Heart Association's Children's Strategically Focused Research Network Experience.

Journal Article J Am Heart Assoc · April 4, 2023 The American Heart Association's Strategically Focused Children's Research Network started in July 2017 with 4 unique programs at Children's National Hospital in Washington, DC; Duke University in Durham, North Carolina; University of Utah in Salt Lake Cit ... Full text Link to item Cite

Maternal Cardiovascular Morbidity Events Following Preeclampsia: A Retrospective Cohort Study.

Journal Article Anesth Analg · April 1, 2023 BACKGROUND: Patients with preeclampsia are at high risk for long-term cardiovascular events, yet the short-term, acute cardiovascular complications that follow preeclampsia are understudied. The objective of this study was to compare the short-term, acute ... Full text Link to item Cite

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.

Journal Article Circ Genom Precis Med · April 2023 Rapid advances in genetic technologies have led to expanding use of diagnostic, research, and direct-to-consumer exome and genome sequencing. Incidentally identified variants from this sequencing represent a significant and growing challenge to interpret a ... Full text Link to item Cite

An antiplatelet response gene expression signature is associated with bleeding.

Journal Article Cardiovasc Res · March 31, 2023 AIMS: Gene expression biosignatures may hold promise to individualize antiplatelet therapy in conjunction with current guidelines and risk scores. The Aspirin Response Signature (ARS) score is comprised of a weighted sum of correlated, pro-thrombotic gene ... Full text Link to item Cite

Response by Selvaraj et al to Letter Regarding Article, "Metabolomic Profiling of the Effects of Dapagliflozin in Heart Failure With Reduced Ejection Fraction: DEFINE-HF".

Journal Article Circulation · March 14, 2023 Full text Link to item Cite

Lipoprotein Subclasses Associated With High-Risk Coronary Atherosclerotic Plaque: Insights From the PROMISE Clinical Trial.

Journal Article J Am Heart Assoc · January 3, 2023 BACKGROUND More than half of major adverse cardiovascular events (MACE) occur in the absence of obstructive coronary artery disease and are often attributed to the rupture of high-risk coronary atherosclerotic plaque (HRP). Blood-based biomarkers that asso ... Full text Link to item Cite

The association of accelerated epigenetic age with all-cause mortality in cardiac catheterization patients as mediated by vascular and cardiometabolic outcomes.

Journal Article Clin Epigenetics · December 3, 2022 BACKGROUND: Epigenetic age is a DNA methylation-based biomarker of aging that is accurate across the lifespan and a range of cell types. The difference between epigenetic age and chronological age, termed age acceleration (AA), is a strong predictor of lif ... Full text Open Access Link to item Cite

Risk factors for cardiovascular disease among individuals with hepatic steatosis.

Journal Article Hepatol Commun · December 2022 Cardiovascular disease (CVD) is the leading cause of mortality in adults with hepatic steatosis (HS). However, risk factors for CVD in HS are unknown. We aimed to identify factors associated with coronary artery disease (CAD) and incident major adverse car ... Full text Link to item Cite

Metabolomic Signatures of Myocardial Glucose Uptake on Fluorine-18 Fluorodeoxyglucose Positron Emission Tomography.

Journal Article JACC Basic Transl Sci · December 2022 Full text Link to item Cite

Protein biomarkers of cardiac remodeling and inflammation associated with HFpEF and incident events.

Journal Article Sci Rep · November 22, 2022 There is increasing evidence that HFpEF is a heterogeneous clinical entity and distinct molecular pathways may contribute to pathophysiology. Leveraging unbiased proteomics to identify novel biomarkers, this study seeks to understand the underlying molecul ... Full text Link to item Cite

Comprehensive nutrient consumption estimation and metabolic profiling during ketogenic diet and relationship with myocardial glucose uptake on FDG-PET.

Journal Article Eur Heart J Cardiovasc Imaging · November 17, 2022 AIMS: The ketogenic diet (KD) is standard-of-care to achieve myocardial glucose suppression (MGS) for assessing inflammation using fluorine-18 fluorodeoxyglucose-positron emission tomography (FDG-PET). As KD protocols remain highly variable between centres ... Full text Link to item Cite

General Anxiety Disorder-7 Questionnaire as a marker of low socioeconomic status and inequity.

Journal Article J Affect Disord · November 15, 2022 BACKGROUND: The General Anxiety Disorder-7 (GAD-7) questionnaire is a standard tool used for screening and follow-up of patients with Generalized Anxiety Disorder (GAD). Although it is generally accepted that anxiety correlates with clinical and psychosoci ... Full text Link to item Cite

A Randomized Controlled Trial of Mobile Health Intervention in Patients With Heart Failure and Diabetes.

Journal Article J Card Fail · November 2022 BACKGROUND: Mobile health (mHealth) platforms can affect health behaviors but have not been rigorously tested in randomized trials. OBJECTIVES: We sought to evaluate the effectiveness of a pragmatic mHealth intervention in patients with heart failure (HF) ... Full text Link to item Cite

Accelerating therapeutic discoveries for heart failure: a new public-private partnership.

Journal Article Nature reviews. Drug discovery · November 2022 Full text Cite

Associations of a polygenic risk score with coronary artery disease phenotypes in the Prospective Multicenter Imaging Study for Evaluation of Chest Pain (PROMISE) trial.

Journal Article Am Heart J · October 2022 A polygenic risk score (PGS) is associated with obstructive coronary artery disease (CAD) independent of traditional risk factors. Coronary computed tomography angiography (CTA) can characterize coronary plaques, including features of highrisk CAD. However ... Full text Link to item Cite

Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.

Journal Article Circulation. Genomic and precision medicine · October 2022 BackgroundInherited primary arrhythmia syndromes and arrhythmogenic cardiomyopathies can lead to sudden cardiac arrest in otherwise healthy individuals. The burden and expression of these diseases in a real-world, well-phenotyped cardiovascular po ... Full text Cite

Heart Failure Strategically Focused Research Network: Summary of Results and Future Directions.

Journal Article J Am Heart Assoc · September 20, 2022 Heart failure remains among the most common and morbid health conditions. The Heart Failure Strategically Focused Research Network (HF SFRN) was funded by the American Heart Association to facilitate collaborative, high-impact research in the field of hear ... Full text Link to item Cite

Coupled myovascular expansion directs cardiac growth and regeneration.

Journal Article Development · September 15, 2022 Heart regeneration requires multiple cell types to enable cardiomyocyte (CM) proliferation. How these cells interact to create growth niches is unclear. Here, we profile proliferation kinetics of cardiac endothelial cells (CECs) and CMs in the neonatal mou ... Full text Link to item Cite

Metabolomic Profiling of the Effects of Dapagliflozin in Heart Failure With Reduced Ejection Fraction: DEFINE-HF.

Journal Article Circulation · September 2022 BackgroundSodium-glucose cotransporter-2 inhibitors are foundational therapy in patients with heart failure with reduced ejection fraction (HFrEF), but underlying mechanisms of benefit are not well defined. We sought to investigate the relationshi ... Full text Cite

Genetic cardiomyopathies and clinical implications in heart transplant recipients: An opportunity for missed diagnoses.

Journal Article J Heart Lung Transplant · September 2022 Full text Link to item Cite

Altered branched-chain α-keto acid metabolism is a feature of NAFLD in individuals with severe obesity.

Journal Article JCI Insight · August 8, 2022 Hepatic de novo lipogenesis is influenced by the branched-chain α-keto acid dehydrogenase (BCKDH) kinase (BCKDK). Here, we aimed to determine whether circulating levels of the immediate substrates of BCKDH, the branched-chain α-keto acids (BCKAs), and hepa ... Full text Link to item Cite

Multi-dimensional characterization of prediabetes in the Project Baseline Health Study.

Journal Article Cardiovasc Diabetol · July 18, 2022 BACKGROUND: We examined multi-dimensional clinical and laboratory data in participants with normoglycemia, prediabetes, and diabetes to identify characteristics of prediabetes and predictors of progression from prediabetes to diabetes or reversion to no di ... Full text Link to item Cite

Plasma metabolites associated with functional and clinical outcomes in heart failure with reduced ejection fraction with and without type 2 diabetes.

Journal Article Sci Rep · June 2, 2022 Heart failure with reduced ejection fraction (HFrEF) is increasingly treated with medications for type 2 diabetes mellitus (T2DM). Whether metabolic derangements in HFrEF and T2DM are associated with differential outcomes remains unclear. Therefore, unders ... Full text Link to item Cite

Insulin Growth Factor Phenotypes in Heart Failure With Preserved Ejection Fraction, an INSPIRE Registry and CATHGEN Study.

Journal Article J Card Fail · June 2022 BACKGROUND: The insulin-like growth factor (IGF) axis emerged as an important pathway in heart failure with preserved ejection (HFpEF). We aimed to identify IGF phenotypes associated with HFpEF in the context of high-dimensional proteomic profiling. METHOD ... Full text Link to item Cite

Comparison of Exogenous Ketone Administration Versus Dietary Carbohydrate Restriction on Myocardial Glucose Suppression: A Crossover Clinical Trial.

Journal Article J Nucl Med · May 2022 The ketogenic diet (KD) is the standard of care to achieve myocardial glucose suppression (MGS) for assessing inflammation using 18F-FDG PET. However, failure to suppress physiologic glucose uptake remains a significant diagnostic barrier. Although extendi ... Full text Link to item Cite

Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.

Journal Article Eur Heart J · May 1, 2022 AIMS: Mitral valve prolapse (MVP) is a common valvular heart disease with a prevalence of >2% in the general adult population. Despite this high incidence, there is a limited understanding of the molecular mechanism of this disease, and no medical therapy ... Full text Link to item Cite

Paying Homage to the Power of Proteomics: Insights Into Obesity and Heart Failure From the HOMAGE Trial.

Journal Article J Card Fail · May 2022 Full text Link to item Cite

A proteomic surrogate for cardiovascular outcomes that is sensitive to multiple mechanisms of change in risk.

Journal Article Sci Transl Med · April 6, 2022 A reliable, individualized, and dynamic surrogate of cardiovascular risk, synoptic for key biologic mechanisms, could shorten the path for drug development, enhance drug cost-effectiveness and improve patient outcomes. We used highly multiplexed proteomics ... Full text Link to item Cite

Risk factors, transcriptomics, and outcomes of myocardial injury following lower extremity revascularization.

Journal Article Scientific reports · April 2022 Myocardial injury after non-cardiac surgery (MINS) is common. We investigated the incidence and outcomes of MINS, and mechanistic underpinnings using pre-operative whole blood gene expression profiling in a prospective cohort study of individuals undergoin ... Full text Cite

Acute Echocardiographic Effects of Exogenous Ketone Administration in Healthy Participants.

Journal Article J Am Soc Echocardiogr · March 2022 BACKGROUND: Interest in therapeutic applications of exogenous ketones has grown significantly, spanning patients with heart failure to endurance athletes. Exogenous ketones engender significant effects on cardiac function in heart failure and provide an er ... Full text Link to item Cite

Phenome-Wide Association Study of Severe COVID-19 Genetic Risk Variants.

Journal Article J Am Heart Assoc · March 2022 Full text Link to item Cite

Heart Disease and Stroke Statistics-2022 Update: A Report From the American Heart Association.

Journal Article Circulation · February 22, 2022 BACKGROUND: The American Heart Association, in conjunction with the National Institutes of Health, annually reports the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smoking, ... Full text Link to item Cite

Sexual Dimorphism in Cardiovascular Biomarkers: Clinical and Research Implications.

Journal Article Circ Res · February 18, 2022 Sex-based differences in cardiovascular disease presentation, diagnosis, and response to therapies are well established, but mechanistic understanding and translation to clinical applications are limited. Blood-based biomarkers have become an important too ... Full text Link to item Cite

Empagliflozin in the treatment of heart failure with reduced ejection fraction in addition to background therapies and therapeutic combinations (EMPEROR-Reduced): a post-hoc analysis of a randomised, double-blind trial.

Journal Article Lancet Diabetes Endocrinol · January 2022 BACKGROUND: It is important to evaluate whether a new treatment for heart failure with reduced ejection fraction (HFrEF) provides additive benefit to background foundational treatments. As such, we aimed to evaluate the efficacy and safety of empagliflozin ... Full text Link to item Cite

Are risk factors necessary for pretest probability assessment of coronary artery disease? A patient similarity network analysis of the PROMISE trial.

Journal Article J Cardiovasc Comput Tomogr · 2022 BACKGROUND: Pretest probability (PTP) calculators utilize epidemiological-level findings to provide patient-level risk assessment of obstructive coronary artery disease (CAD). However, their limited accuracies question whether dissimilarities in risk facto ... Full text Link to item Cite

Association of left ventricular diastolic function with coronary artery calcium score: A Project Baseline Health Study.

Journal Article J Cardiovasc Comput Tomogr · 2022 BACKGROUND: Coronary artery calcium (CAC) and left ventricular diastolic dysfunction (LVDD) are strong predictors of cardiovascular events and share common risk factors. However, their independent association remains unclear. METHODS: In the Project Baseli ... Full text Link to item Cite

Urine tricarboxylic acid cycle signatures of early-stage diabetic kidney disease.

Journal Article Metabolomics · December 20, 2021 INTRODUCTION: Urine tricarboxylic acid (TCA) cycle organic anions (OAs) are elevated in diabetes and may be biomarkers for diabetic kidney disease (DKD) progression. OBJECTIVES: We assessed associations of 10 urine TCA cycle OAs with estimated glomerular f ... Full text Open Access Link to item Cite

Proteomic profiling identifies CLEC4C expression as a novel biomarker of primary graft dysfunction after heart transplantation.

Journal Article J Heart Lung Transplant · December 2021 PURPOSE: Clinical models to identify patients at high risk of primary graft dysfunction (PGD) after heart transplantation (HT) are limited, and the underlying pathophysiology of this common post-transplant complication remains poorly understood. We sought ... Full text Link to item Cite

Future Perspectives of Cardiovascular Biomarker Utilization in Cancer Survivors: A Scientific Statement From the American Heart Association.

Journal Article Circulation · December 2021 Improving cancer survival represents the most significant effect of precision medicine and personalized molecular and immunologic therapeutics. Cardiovascular health becomes henceforth a key determinant for the direction of overall outcomes after cancer. C ... Full text Cite

Noninvasive Risk Score to Screen for Pulmonary Hypertension With Elevated Pulmonary Vascular Resistance in Diseases of Chronic Volume Overload.

Journal Article Am J Cardiol · November 15, 2021 Volume overload promotes pulmonary hypertension (PH) through pulmonary venous hypertension. However, PH with elevated pulmonary vascular resistance (hereafter PH-PVR) may develop in patients with diseases of volume overload, such as heart failure or chroni ... Full text Link to item Cite

Insulin action, type 2 diabetes, and branched-chain amino acids: A two-way street.

Journal Article Molecular metabolism · October 2021 BackgroundA strong association of obesity and insulin resistance with increased circulating levels of branched-chain and aromatic amino acids and decreased glycine levels has been recognized in human subjects for decades.Scope of reviewMo ... Full text Cite

Transmethylamine-N-Oxide Is Associated With Diffuse Cardiac Fibrosis in People Living With HIV.

Journal Article J Am Heart Assoc · August 17, 2021 Background People living with HIV are at increased risk of developing diastolic dysfunction, heart failure, and sudden cardiac death, all of which have been characterized by higher levels of myocardial fibrosis. Transmethylamine-N-oxide (TMAO), a dietary g ... Full text Link to item Cite

Circulating long chain acylcarnitines and outcomes in diabetic heart failure: an HF-ACTION clinical trial substudy.

Journal Article Cardiovasc Diabetol · August 3, 2021 BACKGROUND: Whether differences in circulating long chain acylcarnitines (LCAC) are seen in heart failure (HF) patients with and without diabetes mellitus (DM), and whether these biomarkers report on exercise capacity and clinical outcomes, remains unknown ... Full text Link to item Cite

Molecular Aspects of Lifestyle and Environmental Effects in Patients With Diabetes: JACC Focus Seminar.

Journal Article J Am Coll Cardiol · August 3, 2021 Diabetes is characterized as an integrated condition of dysregulated metabolism across multiple tissues, with well-established consequences on the cardiovascular system. Recent advances in precision phenotyping in biofluids and tissues in large human obser ... Full text Link to item Cite

Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity.

Journal Article Science (New York, N.Y.) · July 2021 Large-scale human exome sequencing can identify rare protein-coding variants with a large impact on complex traits such as body adiposity. We sequenced the exomes of 645,626 individuals from the United Kingdom, the United States, and Mexico and estimated a ... Full text Cite

Associations of Maternal Cardiovascular Health in Pregnancy with Offspring Cardiovascular Health in Early Adolescence

Journal Article Obstetrical and Gynecological Survey · July 1, 2021 Full text Cite

Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci.

Journal Article Genome Med · April 30, 2021 BACKGROUND: DNA methylation (DNAm) is associated with gene regulation and estimated glomerular filtration rate (eGFR), a measure of kidney function. Decreased eGFR is more common among US Hispanics and African Americans. The causes for this are poorly unde ... Full text Open Access Link to item Cite

Association of Metabolic Phenotypes With Coronary Artery Disease and Cardiovascular Events in Patients With Stable Chest Pain.

Journal Article Diabetes Care · April 2021 OBJECTIVE: Obesity and metabolic syndrome are associated with major adverse cardiovascular events (MACE). However, whether distinct metabolic phenotypes differ in risk for coronary artery disease (CAD) and MACE is unknown. We sought to determine the associ ... Full text Link to item Cite

The Pediatric Obesity Microbiome and Metabolism Study (POMMS): Methods, Baseline Data, and Early Insights.

Journal Article Obesity (Silver Spring) · March 2021 OBJECTIVE: The purpose of this study was to establish a biorepository of clinical, metabolomic, and microbiome samples from adolescents with obesity as they undergo lifestyle modification. METHODS: A total of 223 adolescents aged 10 to 18 years with BMI ≥9 ... Full text Open Access Link to item Cite

Metabolites and diabetes remission after weight loss.

Journal Article Nutr Diabetes · February 24, 2021 There is marked heterogeneity in the response to weight loss interventions with regards to weight loss amount and metabolic improvement. We sought to identify biomarkers predictive of type 2 diabetes remission and amount of weight loss in individuals with ... Full text Link to item Cite

Heart Disease and Stroke Statistics-2021 Update: A Report From the American Heart Association.

Journal Article Circulation · February 23, 2021 BACKGROUND: The American Heart Association, in conjunction with the National Institutes of Health, annually reports the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smoking, ... Full text Open Access Link to item Cite

Associations of Maternal Cardiovascular Health in Pregnancy With Offspring Cardiovascular Health in Early Adolescence.

Journal Article JAMA · February 16, 2021 IMPORTANCE: Pregnancy may be a key window to optimize cardiovascular health (CVH) for the mother and influence lifelong CVH for her child. OBJECTIVE: To examine associations between maternal gestational CVH and offspring CVH. DESIGN, SETTING, AND PARTICIPA ... Full text Link to item Cite

Associations of gestational cardiovascular health with pregnancy outcomes: the Hyperglycemia and Adverse Pregnancy Outcome study.

Journal Article Am J Obstet Gynecol · February 2021 BACKGROUND: The American Heart Association's formal characterization of cardiovascular health combines several metrics in a health-oriented, rather than disease-oriented, framework. Although cardiovascular health assessment during pregnancy has been recomm ... Full text Link to item Cite

Metabolomic profiling identifies complex lipid species and amino acid analogues associated with response to weight loss interventions.

Journal Article PLoS One · 2021 Obesity is an epidemic internationally. While weight loss interventions are efficacious, they are compounded by heterogeneity with regards to clinically relevant metabolic responses. Thus, we sought to identify metabolic biomarkers that are associated with ... Full text Link to item Cite

Return of individual research results: What do participants prefer and expect?

Journal Article PLoS One · 2021 Newer data platforms offer increased opportunity to share multidimensional health data with research participants, but the preferences of participants for which data to receive and how is evolving. Our objective is to describe the preferences and expectati ... Full text Link to item Cite

A Phenome Wide Association Study of Severe COVID-19 Genetic Risk Variants

Journal Article · 2021 Background Genetic loci associated with risk of severe COVID-19 infection have been identified and individuals with complicated COVID-19 infections often have multiple comorbidities. Objective Identify known and unidentified comorbidities ... Full text Cite

Risk Factor Burden and Long-Term Prognosis of Patients With Premature Coronary Artery Disease.

Journal Article J Am Heart Assoc · December 15, 2020 Background Coronary artery disease (CAD) is increasing among young adults. We aimed to describe the cardiovascular risk factors and long-term prognosis of premature CAD. Methods and Results Using the Duke Databank for Cardiovascular Disease, we evaluated 3 ... Full text Link to item Cite

Novel plasma biomarkers improve discrimination of metabolic health independent of weight.

Journal Article Sci Rep · December 7, 2020 We sought to determine if novel plasma biomarkers improve traditionally defined metabolic health (MH) in predicting risk of cardiovascular disease (CVD) events irrespective of weight. Poor MH was defined in CATHGEN biorepository participants (n > 9300), a ... Full text Link to item Cite

Accelerated epigenetic age as a biomarker of cardiovascular sensitivity to traffic-related air pollution.

Journal Article Aging (Albany NY) · December 7, 2020 BACKGROUND: Accelerated epigenetic age has been proposed as a biomarker of increased aging, which may indicate disruptions in cellular and organ system homeostasis and thus contribute to sensitivity to environmental exposures. METHODS: Using 497 participan ... Full text Open Access Link to item Cite

Apolipoprotein L1 (APOL1) Coding Variants Are Associated With Creatinine Rise After Cardiac Surgery.

Journal Article J Cardiothorac Vasc Anesth · December 2020 OBJECTIVE: Acute kidney injury (AKI) is a complication of cardiac surgery that is considerably more common in African Americans (1.5-fold). Although homozygous status for apolipoprotein L1 (APOL1) risk alleles is associated with chronic kidney disease in i ... Full text Link to item Cite

Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus.

Journal Article Circ Genom Precis Med · December 2020 BACKGROUND: Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes mellitus (T2D). METHODS: To test whether this reflects differential genetic influences on CAD risk in subjects with T2D, we performed a systematic assessment of genet ... Full text Link to item Cite

Muscle-Liver Trafficking of BCAA-Derived Nitrogen Underlies Obesity-Related Glycine Depletion.

Journal Article Cell Rep · November 10, 2020 Glycine levels are inversely associated with branched-chain amino acids (BCAAs) and cardiometabolic disease phenotypes, but biochemical mechanisms that explain these relationships remain uncharted. Metabolites and genes related to BCAA metabolism and nitro ... Full text Link to item Cite

Evaluating the precision of EBF1 SNP x stress interaction association: sex, race, and age differences in a big harmonized data set of 28,026 participants.

Journal Article Transl Psychiatry · October 20, 2020 In prior work, we identified a novel gene-by-stress association of EBF1's common variation (SNP rs4704963) with obesity (i.e., hip, waist) in Whites, which was further strengthened through multiple replications using our synthetic stress measure. We now ex ... Full text Open Access Link to item Cite

Obesity Genomics and Metabolomics: a Nexus of Cardiometabolic Risk.

Journal Article Curr Cardiol Rep · October 10, 2020 PURPOSE OF REVIEW: Obesity is a significant international public health epidemic with major downstream consequences on morbidity and mortality. While lifestyle factors contribute, there is an evolving understanding of genomic and metabolomic pathways invol ... Full text Link to item Cite

Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.

Journal Article Circ Genom Precis Med · October 2020 BACKGROUND: Familial sitosterolemia is a rare Mendelian disorder characterized by hyperabsorption and decreased biliary excretion of dietary sterols. Affected individuals typically have complete genetic deficiency-homozygous loss-of-function (LoF) variants ... Full text Link to item Cite

Identification of Undetected Monogenic Cardiovascular Disorders.

Journal Article J Am Coll Cardiol · August 18, 2020 BACKGROUND: Monogenic diseases are individually rare but collectively common, and are likely underdiagnosed. OBJECTIVES: The purpose of this study was to estimate the prevalence of monogenic cardiovascular diseases (MCVDs) and potentially missed diagnoses ... Full text Link to item Cite

Rare Things Being Common: Implications for Common Genetic Variants in Rare Diseases Like Long-QT Syndrome.

Journal Article Circulation · July 28, 2020 Full text Open Access Link to item Cite

Lipoprotein (a): An Update on a Marker of Residual Risk and Associated Clinical Manifestations.

Journal Article Am J Cardiol · July 1, 2020 Lipoprotein (a) [Lp(a)] is a low-density, cholesterol-containing lipoprotein that differs from other low-density lipoproteins due to the presence of apolipoprotein(a) bound to its surface apolipoprotein B100. Multiple epidemiologic studies, including Mende ... Full text Link to item Cite

Rationale and design of "Hearts & Parks": study protocol for a pragmatic randomized clinical trial of an integrated clinic-community intervention to treat pediatric obesity.

Journal Article BMC Pediatr · June 26, 2020 BACKGROUND: The prevalence of child and adolescent obesity and severe obesity continues to increase despite decades of policy and research aimed at prevention. Obesity strongly predicts cardiovascular and metabolic disease risk; both begin in childhood. Ch ... Full text Link to item Cite

Preliminary evidence of effects of potassium chloride on a metabolomic path to diabetes and cardiovascular disease.

Journal Article Metabolomics · June 18, 2020 INTRODUCTION: Low potassium intake can affect cardiovascular disease (CVD) risk and cardiometabolic risk factors. OBJECTIVE: We hypothesize that potassium chloride (KCl) supplementation can improve cardiovascular risk metabolomic profile. METHODS: In this ... Full text Link to item Cite

Diastolic Dysfunction in Patients With Human Immunodeficiency Virus Receiving Antiretroviral Therapy: Results From the CHART Study.

Journal Article J Card Fail · May 2020 BACKGROUND: Diastolic dysfunction (DD) is common and occurs at an earlier age among human immunodeficiency virus-infected (HIV+) individuals, but the mechanisms and consequences of DD among HIV+ individuals are unclear. METHODS AND RESULTS: The Characteriz ... Full text Link to item Cite

Circulating MicroRNA Profiling in Non-ST Elevated Coronary Artery Syndrome Highlights Genomic Associations with Serial Platelet Reactivity Measurements.

Journal Article Sci Rep · April 10, 2020 Changes in platelet physiology are associated with simultaneous changes in microRNA concentrations, suggesting a role for microRNA in platelet regulation. Here we investigated potential associations between microRNA and platelet reactivity (PR), a marker o ... Full text Open Access Link to item Cite

Heart Disease and Stroke Statistics-2020 Update: A Report From the American Heart Association.

Journal Article Circulation · March 3, 2020 BACKGROUND: The American Heart Association, in conjunction with the National Institutes of Health, annually reports on the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smokin ... Full text Link to item Cite

Association of obesity with cardiovascular outcomes in patients with type 2 diabetes and cardiovascular disease: Insights from TECOS.

Journal Article Am Heart J · January 2020 BACKGROUND: Obesity is a risk factor for type 2 diabetes (T2D) and cardiovascular disease (CVD). Whether obesity affects outcomes among those with T2D and atherosclerotic CVD (ASCVD) remains uncertain. Our objective was to investigate the relationship betw ... Full text Link to item Cite

Learning autoencoders with relational regularization

Journal Article 37th International Conference on Machine Learning Icml 2020 · January 1, 2020 A new algorithmic framework is proposed for learning autoencoders of data distributions. We minimize the discrepancy between the model and target distributions, with a relational regularization on the learnable latent prior. This regularization penalizes t ... Cite

The Project Baseline Health Study: a step towards a broader mission to map human health.

Journal Article NPJ Digit Med · 2020 The Project Baseline Health Study (PBHS) was launched to map human health through a comprehensive understanding of both the health of an individual and how it relates to the broader population. The study will contribute to the creation of a biomedical info ... Full text Open Access Link to item Cite

Epigenome-Wide Association Study for All-Cause Mortality in a Cardiovascular Cohort Identifies Differential Methylation in Castor Zinc Finger 1 (CASZ1).

Journal Article J Am Heart Assoc · November 5, 2019 Background DNA methylation is implicated in many chronic diseases and may contribute to mortality. Therefore, we conducted an epigenome-wide association study (EWAS) for all-cause mortality with whole-transcriptome data in a cardiovascular cohort (CATHGEN ... Full text Link to item Cite

Associations of osteopontin and NT-proBNP with circulating miRNA levels in acute coronary syndrome.

Journal Article Physiol Genomics · October 1, 2019 The genomic regulatory networks underlying the pathogenesis of non-ST-segment elevation acute coronary syndrome (NSTE-ACS) are incompletely understood. As intermediate traits, protein biomarkers report on underlying disease severity and prognosis in NSTE-A ... Full text Link to item Cite

Global Longitudinal Strain and Immune Status in Patients Living With Human Immunodeficiency Virus.

Journal Article Am J Cardiol · September 15, 2019 Improvement in survival in patients living with human immunodeficiency virus (PLHIV) has led to increased prevalence of cardiovascular disease. Whether HIV-associated immune dysfunction is associated with preclinical left ventricular (LV) dysfunction despi ... Full text Link to item Cite

The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies.

Journal Article Am J Epidemiol · June 1, 2019 The Consortium of Metabolomics Studies (COMETS) was established in 2014 to facilitate large-scale collaborative research on the human metabolome and its relationship with disease etiology, diagnosis, and prognosis. COMETS comprises 47 cohorts from Asia, Eu ... Full text Link to item Cite

Peripheral blood metabolite profiles associated with new onset atrial fibrillation.

Journal Article Am Heart J · May 2019 BACKGROUND: Peripheral blood metabolite profiles have yielded mechanistic insights into various cardiovascular disease states. We hypothesized that peripheral blood metabolite profiles would be associated with new onset atrial fibrillation (AF). METHODS AN ... Full text Link to item Cite

Heart Disease and Stroke Statistics-2019 Update: A Report From the American Heart Association.

Journal Article Circulation · March 5, 2019 Full text Link to item Cite

Sex differences in management and outcomes of patients with stable symptoms suggestive of coronary artery disease: Insights from the PROMISE trial.

Journal Article Am Heart J · February 2019 BACKGROUND: Although sex differences exist in the management of acute coronary syndromes, less is known about the management and outcomes of women and men with suspected coronary artery disease being evaluated with noninvasive testing (NIT). METHODS: We in ... Full text Link to item Cite

High-Density Lipoprotein Particle Subfractions in Heart Failure With Preserved or Reduced Ejection Fraction.

Journal Article J Am Coll Cardiol · January 22, 2019 BACKGROUND: Circulating high-density lipoprotein particle (HDL-P) subfractions impact atherogenesis, inflammation, and endothelial function, all of which are implicated in the pathobiology of heart failure (HF). OBJECTIVES: The authors sought to identify k ... Full text Link to item Cite

Pilot study of myocardial ischemia-induced metabolomic changes in emergency department patients undergoing stress testing.

Journal Article PLoS One · 2019 BACKGROUND: The heart is a metabolically active organ, and plasma acylcarnitines are associated with long-term risk for myocardial infarction. We hypothesized that myocardial ischemia from cardiac stress testing will produce dynamic changes in acylcarnitin ... Full text Open Access Link to item Cite

Evaluating DNA methylation age on the Illumina MethylationEPIC Bead Chip.

Journal Article PLoS One · 2019 DNA methylation age (DNAm age) has become a widely utilized epigenetic biomarker for the aging process. The Horvath method for determining DNAm age is perhaps the most widely utilized and validated DNA methylation age assessment measure. Horvath DNAm age i ... Full text Link to item Cite

The two-pore domain potassium channel TREK-1 mediates cardiac fibrosis and diastolic dysfunction.

Journal Article J Clin Invest · November 1, 2018 Cardiac two-pore domain potassium channels (K2P) exist in organisms from Drosophila to humans; however, their role in cardiac function is not known. We identified a K2P gene, CG8713 (sandman), in a Drosophila genetic screen and show that sandman is critica ... Full text Link to item Cite

Genome-Wide Association Study Links Receptor Tyrosine Kinase Inhibitor Sprouty 2 to Thrombocytopenia after Coronary Artery Bypass Surgery.

Conference Thromb Haemost · September 2018 INTRODUCTION: Thrombocytopenia after cardiac surgery independently predicts stroke, acute kidney injury and death. To understand the underlying risks and mechanisms, we analysed genetic variations associated with thrombocytopenia in patients undergoing co ... Full text Link to item Cite

Improvement in insulin resistance after gastric bypass surgery is correlated with a decline in plasma 2-hydroxybutyric acid.

Journal Article Surg Obes Relat Dis · August 2018 BACKGROUND: Gastric bypass surgery for weight reduction often corrects dysglycemia in diabetic patients, but a full understanding of the underlying biochemical pathways continues to be investigated. OBJECTIVES: To explore the effects of weight loss by surg ... Full text Link to item Cite

Determinants of Left Ventricular Hypertrophy and Diastolic Dysfunction in an HIV Clinical Cohort.

Journal Article J Card Fail · August 2018 OBJECTIVE: The aim of this work was to investigate determinants of structural myocardial abnormalities in persons living with human immunodeficiency virus (PLWH). METHODS AND RESULTS: We reviewed archived transthoracic echocardiograms (TTEs) performed on P ... Full text Link to item Cite

Atherosclerotic Cardiovascular Disease in South Asians in the United States: Epidemiology, Risk Factors, and Treatments: A Scientific Statement From the American Heart Association.

Journal Article Circulation · July 3, 2018 South Asians (from Bangladesh, Bhutan, India, the Maldives, Nepal, Pakistan, and Sri Lanka) make up one quarter of the world's population and are one of the fastest-growing ethnic groups in the United States. Although native South Asians share genetic and ... Full text Link to item Cite

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Journal Article Nat Commun · June 13, 2018 Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decreas ... Full text Link to item Cite

Multi-ethnic genome-wide association study for atrial fibrillation.

Journal Article Nat Genet · June 11, 2018 Atrial fibrillation (AF) affects more than 33 million individuals worldwide1 and has a complex heritability2. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individual ... Full text Link to item Cite

Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine: A Scientific Statement From the American Heart Association.

Journal Article Circ Genom Precis Med · June 2018 The completion of the Human Genome Project has unleashed a wealth of human genomics information, but it remains unclear how best to implement this information for the benefit of patients. The standard approach of biomedical research, with researchers pursu ... Full text Link to item Cite

Spontaneous Coronary Artery Dissection: Current State of the Science: A Scientific Statement From the American Heart Association.

Journal Article Circulation · May 8, 2018 Spontaneous coronary artery dissection (SCAD) has emerged as an important cause of acute coronary syndrome, myocardial infarction, and sudden death, particularly among young women and individuals with few conventional atherosclerotic risk factors. Patient- ... Full text Link to item Cite

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Journal Article Nat Genet · May 2018 In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article. ... Full text Link to item Cite

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Journal Article Nat Genet · May 2018 In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for We ... Full text Link to item Cite

Cardiovascular Metabolomics.

Journal Article Circ Res · April 27, 2018 Disturbances in cardiac metabolism underlie most cardiovascular diseases. Metabolomics, one of the newer omics technologies, has emerged as a powerful tool for defining changes in both global and cardiac-specific metabolism that occur across a spectrum of ... Full text Link to item Cite

CYP3A4 genotype is associated with sildenafil concentrations in patients with heart failure with preserved ejection fraction.

Journal Article Pharmacogenomics J · April 2018 Despite its established inter-individual variability, sildenafil has been the subject of only a few pharmacogenetic investigations, with limited data regarding the genetic modulators of its pharmacokinetics. We conducted a pharmacogenetic sub-study of pati ... Full text Link to item Cite

Diastolic Dysfunction in Individuals With Human Immunodeficiency Virus Infection: Literature Review, Rationale and Design of the Characterizing Heart Function on Antiretroviral Therapy (CHART) Study.

Journal Article J Card Fail · April 2018 Antiretroviral therapy (ART) has been associated with a shift in the epidemiology of human immunodeficiency virus (HIV)-associated cardiomyopathy from a phenotype of primarily left ventricular (LV) systolic dysfunction to LV diastolic dysfunction (DD). Pat ... Full text Link to item Cite

Heart Disease and Stroke Statistics-2018 Update: A Report From the American Heart Association.

Journal Article Circulation · March 20, 2018 Full text Open Access Link to item Cite

Integrative Omics: Harnessing the Proteome to Maximize the Potential of the Genome.

Journal Article Circulation · March 13, 2018 Full text Link to item Cite

Metabolites predict cardiovascular disease events in persons living with HIV: a pilot case-control study.

Journal Article Metabolomics · March 2018 INTRODUCTION: Persons living with HIV (PLWH) are at higher risk for cardiovascular disease (CVD) events than uninfected persons. Current risk-stratification methods to define PLWH at highest risk for CVD events are lacking. METHODS: Using tandem flow injec ... Full text Link to item Cite

Associations Between Residential Proximity to Traffic and Vascular Disease in a Cardiac Catheterization Cohort.

Journal Article Arterioscler Thromb Vasc Biol · January 2018 OBJECTIVE: Exposure to mobile source emissions is nearly ubiquitous in developed nations and is associated with multiple adverse health outcomes. There is an ongoing need to understand the specificity of traffic exposure associations with vascular outcomes ... Full text Link to item Cite

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Journal Article Nat Genet · January 2018 Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challe ... Full text Link to item Cite

Lack of Association of a Functional Polymorphism in the Serotonin Receptor Gene With Body Mass Index and Depressive Symptoms in a Large Meta-Analysis of Population Based Studies.

Journal Article Front Genet · 2018 The serotonin receptor 5-HTR2C is thought to be involved in the function of multiple brain structures. Consequently, the HTR2C gene has been studied extensively with respect to its association with a variety of phenotypes. One coding variant in the HTR2C g ... Full text Open Access Link to item Cite

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

Journal Article Lancet Neurol · November 2017 BACKGROUND: Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-a ... Full text Link to item Cite

Realizing the Potential of Metabolomics in Heart Failure: Signposts on the Path to Clinical Utility.

Journal Article JACC Heart Fail · November 2017 Full text Link to item Cite

Recommendations for Improving Identification and Quantification in Non-Targeted, GC-MS-Based Metabolomic Profiling of Human Plasma.

Journal Article Metabolites · August 25, 2017 The field of metabolomics as applied to human disease and health is rapidly expanding. In recent efforts of metabolomics research, greater emphasis has been placed on quality control and method validation. In this study, we report an experience with qualit ... Full text Link to item Cite

Sildenafil Treatment in Heart Failure With Preserved Ejection Fraction: Targeted Metabolomic Profiling in the RELAX Trial.

Journal Article JAMA Cardiol · August 1, 2017 IMPORTANCE: Phosphodiesterase-5 inhibition with sildenafil compared with a placebo had no effect on the exercise capacity or clinical status of patients with heart failure with preserved ejection fraction (HFpEF) in the PhosphodiesteRasE-5 Inhibition to Im ... Full text Link to item Cite

Brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism is associated with disease severity and incidence of cardiovascular events in a patient cohort.

Journal Article Am Heart J · August 2017 BACKGROUND: The rs6265 (Val66Met) single-nucleotide polymorphism in the BDNF gene has been related to a number of endophenotypes that have in turn been shown to confer risk for atherosclerotic cardiovascular disease (CVD). To date, however, very few studie ... Full text Link to item Cite

Atherogenic Lipoprotein Determinants of Cardiovascular Disease and Residual Risk Among Individuals With Low Low-Density Lipoprotein Cholesterol.

Journal Article J Am Heart Assoc · July 21, 2017 BACKGROUND: Levels of LDL (low-density lipoprotein) cholesterol in the population are declining, and increasing attention is being focused on residual lipid-related pathways of atherosclerotic cardiovascular disease risk beyond LDL cholesterol. Among indiv ... Full text Link to item Cite

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.

Journal Article N Engl J Med · July 20, 2017 BACKGROUND: Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol. It is not known w ... Full text Link to item Cite

Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions.

Journal Article Circulation · June 13, 2017 BACKGROUND: Common diseases such as coronary heart disease (CHD) are complex in etiology. The interaction of genetic susceptibility with lifestyle factors may play a prominent role. However, gene-lifestyle interactions for CHD have been difficult to identi ... Full text Link to item Cite

Whole blood sequencing reveals circulating microRNA associations with high-risk traits in non-ST-segment elevation acute coronary syndrome.

Journal Article Atherosclerosis · June 2017 BACKGROUND AND AIMS: Although circulating microRNA (miRNAs) have emerged as biomarkers predicting mortality in acute coronary syndrome (ACS), more data are needed to understand these mechanisms. Mapping miRNAs to high-risk traits may identify miRNAs involv ... Full text Link to item Cite

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

Journal Article Nat Genet · June 2017 Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the g ... Full text Link to item Cite

Corrigendum to 'Association of Standard Clinical and Laboratory Variables with Red Blood Cell Distribution Width (RDW)'[Am. Heart J. (2016) 22-28].

Journal Article Am Heart J · June 2017 Full text Link to item Cite

A novel approach for measuring residential socioeconomic factors associated with cardiovascular and metabolic health.

Journal Article J Expo Sci Environ Epidemiol · May 2017 Individual-level characteristics, including socioeconomic status, have been associated with poor metabolic and cardiovascular health; however, residential area-level characteristics may also independently contribute to health status. In the current study, ... Full text Link to item Cite

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.

Journal Article J Am Coll Cardiol · April 25, 2017 BACKGROUND: Familial combined hypolipidemia, a Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by mutations that inactivate the gene angiopoietin-like 3 (ANGPTL3). Whether ANGPTL3 deficiency reduces ris ... Full text Link to item Cite

Potential Impact and Study Considerations of Metabolomics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart Association.

Journal Article Circ Cardiovasc Genet · April 2017 Through the measure of thousands of small-molecule metabolites in diverse biological systems, metabolomics now offers the potential for new insights into the factors that contribute to complex human diseases such as cardiovascular disease. Targeted metabol ... Full text Link to item Cite

A pharmacogenetic investigation of intravenous furosemide in decompensated heart failure: a meta-analysis of three clinical trials.

Conference Pharmacogenomics J · March 2017 We conducted a meta-analysis of pharmacogenomic substudies of three randomized trials conducted in patients with decompensated heart failure (HF) that were led by National Heart Lung and Blood Institute (NHLBI)-funded HF Network to test the hypothesis that ... Full text Link to item Cite

Plasma acylcarnitines are associated with pulmonary hypertension.

Journal Article Pulm Circ · March 2017 Quantifying metabolic derangements in pulmonary hypertension (PH) by plasma metabolomics could identify biomarkers useful for diagnosis and treatment. The objective of this paper is to test the hypotheses that circulating metabolites are differentially exp ... Full text Link to item Cite

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Journal Article J Am Coll Cardiol · February 21, 2017 BACKGROUND: Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. OBJECTIVES: This study sought ... Full text Link to item Cite

Rare and low-frequency coding variants alter human adult height.

Journal Article Nature · February 9, 2017 Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in ... Full text Link to item Cite

An age- and sex-specific gene expression score is associated with revascularization and coronary artery disease: Insights from the Prospective Multicenter Imaging Study for Evaluation of Chest Pain (PROMISE) trial.

Journal Article Am Heart J · February 2017 BACKGROUND: Identifying predictors of coronary artery disease (CAD)-related procedures and events remains a priority. METHODS: We measured an age- and sex-specific gene expression score (ASGES) previously validated to detect obstructive CAD (oCAD) in sympt ... Full text Link to item Cite

Apolipoprotein L1 Genetic Variants Are Associated with Chronic Kidney Disease but Not with Cardiovascular Disease in a Population Referred for Cardiac Catheterization.

Journal Article Cardiorenal Med · February 2017 BACKGROUND: While the association between APOL1 genetic variants and chronic kidney disease (CKD) has been established, their association with cardiovascular disease (CVD) is unclear. This study sought to understand CKD and cardiovascular risk conferred by ... Full text Link to item Cite

A Novel Protein Glycan-Derived Inflammation Biomarker Independently Predicts Cardiovascular Disease and Modifies the Association of HDL Subclasses with Mortality.

Journal Article Clin Chem · January 2017 BACKGROUND: Evidence suggests that systemic inflammation may adversely impact HDL function. In this study we sought to evaluate the independent and incremental predictive performance of GlycA-a novel serum inflammatory biomarker that is an aggregate measur ... Full text Link to item Cite

A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic.

Journal Article PLoS One · 2017 Air pollution is a worldwide contributor to cardiovascular disease mortality and morbidity. Traffic-related air pollution is a widespread environmental exposure and is associated with multiple cardiovascular outcomes such as coronary atherosclerosis, perip ... Full text Link to item Cite

Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk.

Journal Article PLoS One · 2017 Glatiramer acetate is used therapeutically in multiple sclerosis but also known for adverse effects including elevated coronary artery disease (CAD) risk. The mechanisms underlying the cardiovascular side effects of the medication are unclear. Here, we mad ... Full text Link to item Cite

Associations among plasma metabolite levels and short-term exposure to PM2.5 and ozone in a cardiac catheterization cohort.

Journal Article Environ Int · December 2016 RATIONALE: Exposure to ambient particulate matter (PM) and ozone has been associated with cardiovascular disease (CVD). However, the mechanisms linking PM and ozone exposure to CVD remain poorly understood. OBJECTIVE: This study explored associations betwe ... Full text Link to item Cite

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis.

Journal Article Int J Epidemiol · December 1, 2016 BACKGROUND: We investigated causal effect of completed growth, measured by adult height, on coronary heart disease (CHD), stroke and cardiovascular traits, using instrumental variable (IV) Mendelian randomization meta-analysis. METHODS: We developed an all ... Full text Link to item Cite

Short-term effects of air temperature on plasma metabolite concentrations in patients undergoing cardiac catheterization.

Journal Article Environ Res · November 2016 BACKGROUND: Epidemiological studies have shown associations between air temperature and cardiovascular health outcomes. Metabolic dysregulation might also play a role in the development of cardiovascular disease. OBJECTIVES: To investigate short-term tempe ... Full text Link to item Cite

No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.

Journal Article Sci Rep · October 12, 2016 In recent years, genome-wide association studies have identified 58 independent risk loci for coronary artery disease (CAD) on the autosome. However, due to the sex-specific data structure of the X chromosome, it has been excluded from most of these analys ... Full text Link to item Cite

Exomes, Proteins, and Cardiovascular Disease: Making Sense of the Signals.

Journal Article Circ Cardiovasc Genet · August 2016 Full text Link to item Cite

Metabolomic Profiling Identifies Novel Circulating Biomarkers of Mitochondrial Dysfunction Differentially Elevated in Heart Failure With Preserved Versus Reduced Ejection Fraction: Evidence for Shared Metabolic Impairments in Clinical Heart Failure.

Journal Article J Am Heart Assoc · July 29, 2016 BACKGROUND: Metabolic impairment is an important contributor to heart failure (HF) pathogenesis and progression. Dysregulated metabolic pathways remain poorly characterized in patients with HF and preserved ejection fraction (HFpEF). We sought to determine ... Full text Open Access Link to item Cite

Aortic valve surgery and survival in patients with moderate or severe aortic stenosis and left ventricular dysfunction.

Journal Article Eur Heart J · July 21, 2016 AIMS: We aimed to determine the frequency of aortic valve surgery (AVR) with or without coronary artery bypass grafting (CABG), among patients with moderate/severe aortic stenosis (AS) and left ventricular systolic dysfunction (LVSD), and its relationship ... Full text Link to item Cite

Sex Differences in Functional and CT Angiography Testing in Patients With Suspected Coronary Artery Disease.

Journal Article J Am Coll Cardiol · June 7, 2016 BACKGROUND: Although risk stratification is an important goal of cardiac noninvasive tests (NITs), few contemporary data exist on the prognostic value of different NITs according to patient sex. OBJECTIVES: The goal of this study was to compare the results ... Full text Link to item Cite

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.

Journal Article N Engl J Med · June 2, 2016 BACKGROUND: Several sequence variants are known to have effects on serum levels of non-high-density lipoprotein (HDL) cholesterol that alter the risk of coronary artery disease. METHODS: We sequenced the genomes of 2636 Icelanders and found variants that w ... Full text Link to item Cite

Metabolic Dysfunction in Heart Failure: Diagnostic, Prognostic, and Pathophysiologic Insights From Metabolomic Profiling.

Journal Article Curr Heart Fail Rep · June 2016 Metabolic impairment is an intrinsic component of heart failure (HF) pathophysiology. Although initially conceived as a myocardial defect, metabolic dysfunction is now recognized as a systemic process with complex interplay between the myocardium and perip ... Full text Link to item Cite

Catabolic Defect of Branched-Chain Amino Acids Promotes Heart Failure.

Journal Article Circulation · May 24, 2016 BACKGROUND: Although metabolic reprogramming is critical in the pathogenesis of heart failure, studies to date have focused principally on fatty acid and glucose metabolism. Contribution of amino acid metabolic regulation in the disease remains understudie ... Full text Link to item Cite

Sex Differences in Demographics, Risk Factors, Presentation, and Noninvasive Testing in Stable Outpatients With Suspected Coronary Artery Disease: Insights From the PROMISE Trial.

Journal Article JACC Cardiovasc Imaging · April 2016 OBJECTIVES: The aim of this study was to determine whether presentation, risk assessment, testing choices, and results differ by sex in stable symptomatic outpatients with suspected coronary artery disease (CAD). BACKGROUND: Although established CAD presen ... Full text Link to item Cite

Association of standard clinical and laboratory variables with red blood cell distribution width.

Journal Article Am Heart J · April 2016 BACKGROUND: Red blood cell distribution width (RDW) strongly predicts clinical outcomes among patients with coronary disease and heart failure. The factors underpinning this association are unknown. METHODS: In 6,447 individuals enrolled in the Measurement ... Full text Link to item Cite

Pharmacogenetics of Clopidogrel: An Unresolved Issue.

Journal Article Circ Cardiovasc Genet · April 2016 Full text Link to item Cite

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Journal Article N Engl J Med · March 24, 2016 BACKGROUND: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 h ... Full text Link to item Cite

Pharmacometabolomics Meets Genetics: A "Natural" Clinical Trial of Statin Effects.

Journal Article J Am Coll Cardiol · March 15, 2016 Full text Link to item Cite

High-density lipoprotein subclass measurements improve mortality risk prediction, discrimination and reclassification in a cardiac catheterization cohort.

Journal Article Atherosclerosis · March 2016 BACKGROUND AND AIMS: Recent failures of HDL cholesterol (HDL-C)-raising therapies to prevent cardiovascular disease (CVD) events have tempered the interest in the role of HDL-C in clinical risk assessment. Emerging data suggest that the atheroprotective pr ... Full text Link to item Cite

Complexities of Genetic Testing in Familial Dilated Cardiomyopathy.

Journal Article Circ Cardiovasc Genet · February 2016 Full text Link to item Cite

Prognostic Implications of Long-Chain Acylcarnitines in Heart Failure and Reversibility With Mechanical Circulatory Support.

Journal Article J Am Coll Cardiol · January 26, 2016 BACKGROUND: Heart failure (HF) is characterized by perturbations in energy homeostasis and metabolism. The reversibility and prognostic value of circulating markers associated with these changes remain unclear. OBJECTIVES: This study sought to describe the ... Full text Link to item Cite

Opportunities for the Cardiovascular Community in the Precision Medicine Initiative.

Journal Article Circulation · January 12, 2016 The Precision Medicine Initiative recently announced by President Barack Obama seeks to move the field of precision medicine more rapidly into clinical care. Precision medicine revolves around the concept of integrating individual-level data including geno ... Full text Link to item Cite

Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

Journal Article PLoS One · 2016 There is a growing literature indicating that genetic variants modify many of the associations between environmental exposures and clinical outcomes, potentially by increasing susceptibility to these exposures. However, genome-scale investigations of these ... Full text Link to item Cite

Case-Only Survival Analysis Reveals Unique Effects of Genotype, Sex, and Coronary Disease Severity on Survivorship.

Journal Article PLoS One · 2016 Survival bias may unduly impact genetic association with complex diseases; gene-specific survival effects may further complicate such investigations. Coronary artery disease (CAD) is a complex phenotype for which little is understood about gene-specific su ... Full text Link to item Cite

A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience.

Journal Article J Cardiovasc Transl Res · November 2015 The CATHeterization GENetics (CATHGEN) biorepository was assembled in four phases. First, project start-up began in 2000. Second, between 2001 and 2010, we collected clinical data and biological samples from 9334 individuals undergoing cardiac catheterizat ... Full text Link to item Cite

Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis.

Journal Article PLoS Genet · November 2015 Levels of certain circulating short-chain dicarboxylacylcarnitine (SCDA), long-chain dicarboxylacylcarnitine (LCDA) and medium chain acylcarnitine (MCA) metabolites are heritable and predict cardiovascular disease (CVD) events. Little is known about the bi ... Full text Open Access Link to item Cite

Association of Roadway Proximity with Fasting Plasma Glucose and Metabolic Risk Factors for Cardiovascular Disease in a Cross-Sectional Study of Cardiac Catheterization Patients.

Journal Article Environ Health Perspect · October 2015 BACKGROUND: The relationship between traffic-related air pollution (TRAP) and risk factors for cardiovascular disease needs to be better understood in order to address the adverse impact of air pollution on human health. OBJECTIVE: We examined associations ... Full text Link to item Cite

Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.

Journal Article Kidney Int · October 2015 Acute kidney injury (AKI) is a common, serious complication of cardiac surgery. Since prior studies have supported a genetic basis for postoperative AKI, we conducted a genome-wide association study (GWAS) for AKI following coronary bypass graft (CABG) sur ... Full text Open Access Link to item Cite

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

Journal Article Nat Genet · October 2015 Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association study (GWAS) analysis of common SNPs. Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analy ... Full text Link to item Cite

Current Science on Consumer Use of Mobile Health for Cardiovascular Disease Prevention: A Scientific Statement From the American Heart Association.

Journal Article Circulation · September 22, 2015 Full text Link to item Cite

ADAM12: a genetic modifier of preclinical peripheral arterial disease.

Journal Article Am J Physiol Heart Circ Physiol · September 2015 In prior studies from multiple groups, outcomes following experimental peripheral arterial disease (PAD) differed considerably across inbred mouse strains. Similarly, in humans with PAD, disease outcomes differ, even when there are similarities in risk fac ... Full text Link to item Cite

Computing a Synthetic Chronic Psychosocial Stress Measurement in Multiple Datasets and its Application in the Replication of G × E Interactions of the EBF1 Gene.

Journal Article Genet Epidemiol · September 2015 Chronic psychosocial stress adversely affects health and is associated with the development of disease [Williams, 2008]. Systematic epidemiological and genetic studies are needed to uncover genetic variants that interact with stress to modify metabolic res ... Full text Link to item Cite

Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.

Journal Article Am Heart J · September 2015 BACKGROUND: Postoperative atrial fibrillation (AF) is a potentially life-threatening complication after coronary artery bypass graft (CABG) surgery. Genetic predisposition may predict risk for developing postoperative AF. METHODS: Study subjects underwent ... Full text Link to item Cite

Use of outcome measures in pulmonary hypertension clinical trials.

Journal Article Am Heart J · September 2015 OBJECTIVES: To evaluate the use of surrogate measures in pulmonary hypertension (PH) clinical trials and how it relates to clinical practice. BACKGROUND: Studies of pulmonary arterial hypertension (PAH) employ a variety of surrogate measures in addition to ... Full text Link to item Cite

Epigenetic profiling identifies novel genes for ascending aortic aneurysm formation with bicuspid aortic valves.

Journal Article Heart Surg Forum · August 30, 2015 BACKGROUND: Bicuspid aortic valves predispose to ascending aortic aneurysms, but the mechanisms underlying this aortopathy remain incompletely characterized. We sought to identify epigenetic pathways predisposing to aneurysm formation in bicuspid patien ... Full text Link to item Cite

Novel Protein Glycan Inflammatory Biomarkers Predict Adverse Events in Heart Failure with Preserved Ejection Fraction

Conference Journal of Cardiac Failure · August 2015 Full text Cite

Systems Genetics Analysis of Genome-Wide Association Study Reveals Novel Associations Between Key Biological Processes and Coronary Artery Disease.

Journal Article Arterioscler Thromb Vasc Biol · July 2015 OBJECTIVE: Genome-wide association studies have identified multiple genetic variants affecting the risk of coronary artery disease (CAD). However, individually these explain only a small fraction of the heritability of CAD and for most, the causal biologic ... Full text Link to item Cite

Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.

Journal Article Eur J Hum Genet · June 2015 We performed gene-environment interaction genome-wide association analysis (G × E GWAS) to identify SNPs whose effects on metabolic traits are modified by chronic psychosocial stress in the Multi-Ethnic Study of Atherosclerosis (MESA). In Whites, the G × E ... Full text Open Access Link to item Cite

Genetically determined height and coronary artery disease.

Journal Article N Engl J Med · April 23, 2015 BACKGROUND: The nature and underlying mechanisms of an inverse association between adult height and the risk of coronary artery disease (CAD) are unclear. METHODS: We used a genetic approach to investigate the association between height and CAD, using 180 ... Full text Link to item Cite

Integrated metabolomics and genomics: systems approaches to biomarkers and mechanisms of cardiovascular disease.

Journal Article Circ Cardiovasc Genet · April 2015 The genetic architecture underlying the heritability of cardiovascular disease is incompletely understood. Metabolomics is an emerging technology platform that has shown early success in identifying biomarkers and mechanisms of common chronic diseases. Int ... Full text Link to item Cite

Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.

Journal Article Heart Surg Forum · February 27, 2015 BACKGROUND: Vein graft stenosis after coronary artery bypass grafting (CABG) is common. Identifying genes associated with vein graft stenosis after CABG could reveal novel mechanisms of disease and discriminate patients at risk for graft failure. We hypoth ... Full text Link to item Cite

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Journal Article Nature · February 5, 2015 Myocardial infarction (MI), a leading cause of death around the world, displays a complex pattern of inheritance. When MI occurs early in life, genetic inheritance is a major component to risk. Previously, rare mutations in low-density lipoprotein (LDL) ge ... Full text Link to item Cite

Simultaneous consideration of multiple candidate protein biomarkers for long-term risk for cardiovascular events.

Journal Article Circ Cardiovasc Genet · February 2015 BACKGROUND: Although individual protein biomarkers are associated with cardiovascular risk, rarely have multiple proteins been considered simultaneously to identify which set of proteins best predicts risk. METHODS AND RESULTS: In a nested case-control stu ... Full text Link to item Cite

Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Journal Article Hum Mol Genet · January 15, 2015 C-reactive protein (CRP) concentration is a heritable systemic marker of inflammation that is associated with cardiovascular disease risk. Genome-wide association studies have identified CRP-associated common variants associated in ∼25 genes. Our aims were ... Full text Link to item Cite

Effects of left ventricular assist device support on biomarkers of cardiovascular stress, fibrosis, fluid homeostasis, inflammation, and renal injury.

Journal Article JACC Heart Fail · January 2015 OBJECTIVES: The purpose of this study was to examine changes in a broad panel of biomarkers following left ventricular assist device (LVAD) support in advanced heart failure (HF). BACKGROUND: LVAD therapy mechanically unloads the failing heart and may resu ... Full text Link to item Cite

SLCO1B1 genetic variants, long-term low-density lipoprotein cholesterol levels and clinical events in patients following cardiac catheterization.

Journal Article Pharmacogenomics · 2015 AIM: SLCO1B1 variants are associated with intermediate outcomes that may increase risk of death/myocardial infarction (MI) in statin-treated patients. PATIENTS & METHODS: In high-risk Caucasians undergoing cardiac catheterization, we tested the association ... Full text Link to item Cite

G protein-coupled receptor kinase 5 gene polymorphisms are associated with postoperative atrial fibrillation after coronary artery bypass grafting in patients receiving β-blockers.

Other Circ Cardiovasc Genet · October 2014 BACKGROUND: We hypothesized that genetic variations in the adrenergic signaling pathway and cytochrome P450 2D6 enzyme are associated with new-onset atrial fibrillation (AF) in patients who underwent coronary artery bypass grafting and were treated with pe ... Full text Link to item Cite

Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease.

Journal Article PLoS Genet · July 2014 The majority of the heritability of coronary artery disease (CAD) remains unexplained, despite recent successes of genome-wide association studies (GWAS) in identifying novel susceptibility loci. Integrating functional genomic data from a variety of source ... Full text Link to item Cite

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Journal Article PLoS Genet · July 2014 Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant gen ... Full text Link to item Cite

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Journal Article Am J Hum Genet · February 6, 2014 Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect against risk of coronary heart disease (CHD), and have prompted the development o ... Full text Link to item Cite

Validation of the association between a branched chain amino acid metabolite profile and extremes of coronary artery disease in patients referred for cardiac catheterization.

Journal Article Atherosclerosis · January 2014 OBJECTIVE: To validate independent associations between branched-chain amino acids (BCAA) and other metabolites with coronary artery disease (CAD). METHODS: We conducted mass-spectrometry-based profiling of 63 metabolites in fasting plasma from 1983 sequen ... Full text Link to item Cite

Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

Journal Article Hum Mol Genet · December 20, 2013 Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethyla ... Full text Link to item Cite

Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort.

Journal Article Hum Genet · December 2013 We performed a gene-smoking interaction analysis using families from an early-onset coronary artery disease cohort (GENECARD). This analysis was focused on validating and expanding results from previous studies implicating single nucleotide polymorphisms ( ... Full text Link to item Cite

Race and sex differences in small-molecule metabolites and metabolic hormones in overweight and obese adults.

Journal Article OMICS · December 2013 In overweight/obese individuals, cardiometabolic risk factors differ by race and sex categories. Small-molecule metabolites and metabolic hormone levels might also differ across these categories and contribute to risk factor heterogeneity. To explore this ... Full text Link to item Cite