New perspectives on the prevalence of hypertrophic cardiomyopathy

J Am Coll Cardiol. 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019.


Hypertrophic cardiomyopathy (HCM) is an important genetic heart muscle disease for which prevalence in the general population has not been completely resolved. For the past 20 years, most data have supported the occurrence of HCM at about 1 in 500. However, the authors have interrogated a number of relevant advances in cardiovascular medicine, including widespread fee-for-service genetic testing, population genetic studies, and contemporary diagnostic imaging, as well as a greater index of suspicion and recognition for both the clinically expressed disease and the gene-positive-phenotype-negative subset (at risk for developing the disease). Accounting for the potential impact of these initiatives on disease occurrence, the authors have revisited the prevalence of HCM in the general population. They suggest that HCM is more common than previously estimated, which may enhance its recognition in the practicing cardiovascular community, allowing more timely diagnosis and the implementation of appropriate treatment options for many patients.

Keywords: genetics; hypertrophic cardiomyopathy; magnetic resonance imaging; sudden death.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / epidemiology*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Death, Sudden, Cardiac / epidemiology*
  • Echocardiography, Doppler / methods
  • Female
  • Genetic Predisposition to Disease / epidemiology*
  • Humans
  • Magnetic Resonance Imaging, Cine / methods
  • Male
  • Phenotype
  • Prevalence
  • Prognosis
  • Risk Assessment
  • Severity of Illness Index
  • Survival Analysis