Molecular genetics of dilated cardiomyopathy

A major advance in the study of the pathogenesis of dilated cardiomyopathy (DC) has been the identification of a familiar trait in a relevant proportion of cases (more than 25%), which indicates that, at least in these cases, a mutated gene is the cause of the disease. Familial dilated cardiomyopathy is a genetically heterogeneous disorder, most frequently with autosomal-dominant inheritance. Five different loci that cosegregate with the disease have been mapped so far; the identification of the disease genes is still in progress. The only disease gene known so far is the dystrophin gene, which causes X-linked DC. By analogy with dystrophin, it is believed that other cytoskeletal proteins could be involved in the pathogenesis of DC. Finally, in right ventricular cardiomyopathy, a peculiar form of cardiomyopathy that is frequently familial as well, several disease loci have been described. Also in this case, no disease gene has been yet identified. The advances in clinical and molecular genetics of DC have relevant clinical and therapeutic implications.