Inherited cardiomyopathies and genetics

Abstract

Cardiomyopathies are a clinically heterogeneous group of cardiac muscle disorders. They are defined by the presence of abnormal myocardial structure in the absence of ischaemic and valvular heart disease, hypertension and congenital heart disease. There are five main types of inherited cardiomyopathies: hypertrophic, dilated, arrhythmogenic right ventricular cardiomyopathy, restrictive and left ventricular non-compaction cardiomyopathy. For most cardiomyopathies autosomal dominant transmission is the commonest mode of inheritance except for those caused by metabolic disorders. Cardiomyopathies are associated with the early development of heart failure and an increased risk of sudden cardiac death often claiming the lives of young patients. Advances in molecular genetics have allowed us to better understand these myocardial diseases allowing for better clinical diagnosis, management and familial screening. This review will focus on the genetics in HCM and DCM.