The genetics of hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is most commonly transmitted as an autosomal dominant trait, caused by mutations in genes encoding cardiac sarcomere proteins(1–3). Other inheritable causes of the disease include mutations in genes coding for proteins important in calcium handling or that form part of the cytoskeleton(4–6). At present, the primary clinical role of genetic testing in HCM is to facilitate familial screening to allow the identification of individuals at risk of developing the disease(7,8). It is also used to diagnose genocopies, such as lysosomal(9–11) and glycogen storage disease which have different treatment strategies, rates of disease progression and prognosis(12–14). The role of genetic testing in predicting prognosis is limited at present, but emerging data suggest that knowledge of the genetic basis of disease will assume an important role in disease stratification(15–17) and offer potential targets for disease-modifying therapy in the near future(18).