Genetics of familial dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is a primary heart muscle disease characterized by ventricular dilatation and impaired systolic function. DCM is the most common form of cardiomyopathy, and is also the commonest cause for heart failure and cardiac transplantation in adults and children. The frequency of familial occurrence of DCM had been significantly underestimated in the past, but extensive family studies showed that 35–45% of cases are familial. This recognition led to molecular genetic investigations that have further enhanced the understanding of the molecular pathogenesis of DCM. In this review, we discuss these new insights into the genetics of DCM which will have important implications for the diagnosis, risk stratification and treatment of DCM.