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Genetic bases of dilated cardiomyopathy

Araco, Marco; Merlo, Marco; Carr-White, Gerald; Sinagra, Gianfranco

Journal of Cardiovascular Medicine: March 2017 - Volume 18 - Issue 3 - p 123–130
doi: 10.2459/JCM.0000000000000432

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.

aDepartment of Cardiology, Guys and St Thomas NHS Trust, London, United Kingdom

bDivision of Cardiology, Cardiovascular Department, Ospedali Riuniti and University of Trieste, Trieste, Italy

Correspondence to Marco Araco, MD, Department of Cardiology, St. Thomas’ Hospital, Westminster Bridge Road, London SE1 7EH, United Kingdom Tel: +44 2071889256; fax: +44 2071881011; e-mail:

Received 23 February, 2016

Revised 14 July, 2016

Accepted 1 August, 2016

© 2017 Italian Federation of Cardiology. All rights reserved.