Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification

Curr Cardiol Rep. 2021 Jan 12;23(2):9. doi: 10.1007/s11886-020-01437-4.


Purpose of review: Our knowledge of the genetic basis and molecular pathogenesis of hypertrophic cardiomyopathy (HCM) continues to evolve. We describe the genetic basis of HCM, recent advances in genetic testing and the role of genetics in guiding risk stratification and management, both now and in the future.

Recent findings: While initially thought to be an exclusively Mendelian disease, we now know there are important HCM sub-groups. A proportion will have sarcomere variants as the cause of their disease, while others will have genetic variants in genes that can give rise to conditions that can mimic HCM. The role of genetics is primarily for cascade genetic testing, though there is emerging evidence of a role for prognosis and patient management. Genetic testing is a useful addition to management. Genotype may play a greater role in risk stratification, management, treatment and prognosis in future, offering improved outcomes for patients and their families with HCM.

Keywords: Genetics; Hypertrophic cardiomyopathy; Management; Risk stratification.

Publication types

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

MeSH terms

  • Cardiomyopathy, Hypertrophic* / genetics
  • Genetic Testing
  • Genotype
  • Humans
  • Mutation
  • Risk Assessment
  • Sarcomeres / genetics