Cardiomyopathies represent a wide and heterogeneous group of diseases wherein a genetic cause has been consistently identified.
Dilated cardiomyopathy (DCM) is characterized by ventricular dilation and progressive systolic dysfunction, and it is the most common form of cardiomyopathy.
Causative genetic mutations have been identified in more than 40 genes encoding proteins belonging to different cellular structures and pathways.
A great diversity of pathways has been implied in the pathogenesis of DCM, depending on the affected genes and on the dislodged intracellular structures or mechanisms.
This review describes the major genes and focus on the pathophysiologic mechanisms of DCM, with a special consideration of the most recent discoveries in the field.