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

Publication ,  Journal Article
Landstrom, AP; Chahal, AA; Ackerman, MJ; Cresci, S; Milewicz, DM; Morris, AA; Sarquella-Brugada, G; Semsarian, C; Shah, SH; Sturm, AC ...
Published in: 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 and translate into clinical care and include variants in genes associated with heritable cardiovascular disease such as cardiac ion channelopathies, cardiomyopathies, thoracic aortic disease, dyslipidemias, and congenital/structural heart disease. These variants need to be properly reported, the risk of associated disease accurately assessed, and clinical management implemented to prevent or lessen the disease so that cardiovascular genomic medicine can become both predictive and preventive. The goal of this American Heart Association consensus statement is to provide guidance to clinicians who are called on to evaluate patients with incidentally identified genetic variants in monogenic cardiovascular disease genes and to assist them in the interpretation and clinical application of variants. This scientific statement outlines a framework through which clinicians can assess the pathogenicity of an incidental variant, which includes a clinical evaluation of the patient and the patient's family and re-evaluation of the genetic variant in question. Furthermore, this guidance underscores the importance of a multidisciplinary team to address these challenging clinical evaluations and highlights how clinicians can effectively interface with specialty centers.

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Published In

Circ Genom Precis Med

DOI

EISSN

2574-8300

Publication Date

April 2023

Volume

16

Issue

2

Start / End Page

e000092

Location

United States

Related Subject Headings

  • United States
  • Humans
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Genetic Counseling
  • Cardiovascular Diseases
  • American Heart Association
 

Citation

APA
Chicago
ICMJE
MLA
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Landstrom, A. P., Chahal, A. A., Ackerman, M. J., Cresci, S., Milewicz, D. M., Morris, A. A., … American Heart Association Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicine and Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Hypertension; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Peripheral Vascular Disease; and Stroke Council, . (2023). Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association. Circ Genom Precis Med, 16(2), e000092. https://doi.org/10.1161/HCG.0000000000000092
Landstrom, Andrew P., Anwar A. Chahal, Michael J. Ackerman, Sharon Cresci, Dianna M. Milewicz, Alanna A. Morris, Georgia Sarquella-Brugada, et al. “Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.Circ Genom Precis Med 16, no. 2 (April 2023): e000092. https://doi.org/10.1161/HCG.0000000000000092.
Landstrom AP, Chahal AA, Ackerman MJ, Cresci S, Milewicz DM, Morris AA, et al. Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2023 Apr;16(2):e000092.
Landstrom, Andrew P., et al. “Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.Circ Genom Precis Med, vol. 16, no. 2, Apr. 2023, p. e000092. Pubmed, doi:10.1161/HCG.0000000000000092.
Landstrom AP, Chahal AA, Ackerman MJ, Cresci S, Milewicz DM, Morris AA, Sarquella-Brugada G, Semsarian C, Shah SH, Sturm AC, American Heart Association Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicine and Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Hypertension; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Peripheral Vascular Disease; and Stroke Council. Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2023 Apr;16(2):e000092.

Published In

Circ Genom Precis Med

DOI

EISSN

2574-8300

Publication Date

April 2023

Volume

16

Issue

2

Start / End Page

e000092

Location

United States

Related Subject Headings

  • United States
  • Humans
  • Genetic Variation
  • Genetic Predisposition to Disease
  • Genetic Counseling
  • Cardiovascular Diseases
  • American Heart Association