Molecular genetics of hypertrophic cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM), a serious and often tragic disorder, is characterized by hypertrophy of the interventricular septum and left ventricular wall, hypercontractile systolic function with diastolic dysfunction, and in some cases, left ventricular outflow tract obstruction. On histopathologic examination, myofiber disarray is common. The genes for familial cases of hypertrophic cardiomyopathy are known to encode members of the sarcomere and to date nine genes have been identified (beta-myosin heavy chain, alpha-tropomyosin, cardiac troponin T, troponin I, myosin binding protein-C, regulatory myosin light chain, essential myosin light chain, cardiac actin, and titin) for this genetically and clinically heterogeneous disease. In this review the genetic basis of HCM is discussed.