Genetic Considerations in Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy that develops in the absence of pressure overload or storage/infiltrative processes. Approximately 20 years ago, mutations in genes encoding sarcomere proteins were identified as the cause of HCM. Although there are limitations to current clinical application, genetic testing can identify the specific gene mutation responsible for causing HCM in patients and their family. This provides a definitive means to identify at-risk relatives, as well as new opportunities to study pathogenesis, and developing novel strategies for disease prevention and modification.