Inherited cardiac muscle disease: Dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is a chronic primary heart muscle disease defined by “the presence of unexplained dilatation and systolic impairment of the left or both ventricles”. It represents the end-phenotype of heart muscle damage induced by different genetic (>100 known disease genes) and non-genetic causes (inflammatory, toxic, and immune-mediated). In familial genetic DCM, the most common inheritance is autosomal dominant irrespective of the possible complex genetics (> than one mutation) identifiable with the modern massive parallel sequencing of multi-gene panels. The precise diagnosis (identification of the cause) starts with clinical hypothesis that should be generated on the basis of deep phenotyping of the proband and relatives, clinical history and pathology investigations. Genetic tests in probands and cascade family screening in clinically phenotyped families provide the basis for segregation studies that are major contributors to the assignment of a causative role of mutations in families.