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Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

Publication ,  Journal Article
Landstrom, AP; Ackerman, MJ
Published in: Circulation
December 7, 2010

Hypertrophic cardiomyopathy (HCM), or clinically unexplained hypertrophy of the heart, is a common genetic cardiovascular disorder marked by genetic and phenotypic heterogeneity. As the genetic mutations underlying the pathogenesis of this disease have been identified, investigators have attempted to link mutations to clearly defined alterations in survival in hopes of identifying prognostically relevant biomarkers of disease. While initial studies labeling particular MYH7-encoded beta myosin heavy chain and TNNT2-encoded cardiac troponin T mutations as “malignant” or “benign” raised hopes for mutation-specific risk stratification in HCM, a series of subsequent investigations identified mutations in families with contradictory disease phenotypes. Furthermore, subsequent proband-based cohort studies indicated that the clinical prognostic relevance of individual mutations labeled as “malignant” or “benign” in large referral centers is negligible. Herein, we seek to summarize the controversy and dispute the notion that mutation-specific risk stratification in HCM is possible at the present time. We provide evidence for clinicians and basic scientists alike to move beyond simple mutation descriptors to a more nuanced understanding of HCM mutations that fully captures the multi-factorial nature of HCM disease expression.

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Published In

Circulation

DOI

EISSN

1524-4539

Publication Date

December 7, 2010

Volume

122

Issue

23

Start / End Page

2441 / 2449

Location

United States

Related Subject Headings

  • Prognosis
  • Predictive Value of Tests
  • Mutation
  • Humans
  • Genotype
  • Cardiovascular System & Hematology
  • Cardiomyopathy, Hypertrophic
  • 4207 Sports science and exercise
  • 3202 Clinical sciences
  • 3201 Cardiovascular medicine and haematology
 

Citation

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ICMJE
MLA
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Landstrom, A. P., & Ackerman, M. J. (2010). Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation, 122(23), 2441–2449. https://doi.org/10.1161/CIRCULATIONAHA.110.954446
Landstrom, Andrew P., and Michael J. Ackerman. “Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.Circulation 122, no. 23 (December 7, 2010): 2441–49. https://doi.org/10.1161/CIRCULATIONAHA.110.954446.
Landstrom AP, Ackerman MJ. Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation. 2010 Dec 7;122(23):2441–9.
Landstrom, Andrew P., and Michael J. Ackerman. “Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.Circulation, vol. 122, no. 23, Dec. 2010, pp. 2441–49. Pubmed, doi:10.1161/CIRCULATIONAHA.110.954446.
Landstrom AP, Ackerman MJ. Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation. 2010 Dec 7;122(23):2441–2449.

Published In

Circulation

DOI

EISSN

1524-4539

Publication Date

December 7, 2010

Volume

122

Issue

23

Start / End Page

2441 / 2449

Location

United States

Related Subject Headings

  • Prognosis
  • Predictive Value of Tests
  • Mutation
  • Humans
  • Genotype
  • Cardiovascular System & Hematology
  • Cardiomyopathy, Hypertrophic
  • 4207 Sports science and exercise
  • 3202 Clinical sciences
  • 3201 Cardiovascular medicine and haematology