The inheritance of hypertrophic cardiomyopathy

The inheritance of hypertrophic cardiomyopathy is autosomal dominant, "sporadic" cases are now recognised to be uncommon. In the past 5 years molecular genetic advances have isolated >100 different mutations in genes encoding sarcomeric proteins. The cardiac morphology and prognosis are linked to the underlying genetic defect, but intra and interfamilial variation suggest polymorphism or mutation of other genes, or environmental factors. Penetrance is age related and negative echocardiographic screening cannot guarantee absence of disease. Currently mutation analysis is not routine in clinical practice.