Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy

J Am Coll Cardiol. 2009 Jul 14;54(3):201-11. doi: 10.1016/j.jacc.2009.02.075.


Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting approximately 1 in 500 individuals, HCM is the most common cause of sudden death in young athletes. In recent years, genomic medicine has been moving from the bench to the bedside throughout all medical disciplines including cardiology. Now, genomic medicine has entered clinical practice as it pertains to the evaluation and management of patients with HCM. The continuous research and discoveries of new HCM susceptibility genes, the growing amount of data from genotype-phenotype correlation studies, and the introduction of commercially available genetic tests for HCM make it essential that the modern-day cardiologist understand the diagnostic, prognostic, and therapeutic implications of HCM genetic testing.

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Cardiomyopathy, Hypertrophic / drug therapy
  • Cardiomyopathy, Hypertrophic / genetics*
  • Echocardiography
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Genomics
  • Humans
  • Pharmacogenetics
  • Prognosis