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Recent progress in the genetics of cardiomyopathy and its role in the clinical evaluation of patients with cardiomyopathy

Ghosh, Nina; Haddad, Haissam

Current Opinion in Cardiology: March 2011 - Volume 26 - Issue 2 - p 155–164
doi: 10.1097/HCO.0b013e3283439797
Heart failure: Edited by Haissam Haddad

Purpose of review This review will provide an overview of the genetic basis of cardiomyopathy with an emphasis on the clinically relevant breakthroughs that have occurred recently and their role in the evaluation of patients with cardiomyopathy.

Recent findings Recent developments that have occurred in genetic cardiomyopathy include the finding of a shared genetic basis of familial dilated cardiomyopathy in at least a subset of cases of peripartum cardiomyopathy; the increased yield for the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) when genetic testing is incorporated into Task Force Criteria; and the value of testing a spectrum of implicated genes in hypertrophic cardiomyopathy and ARVC because of the severe phenotype associated with compound mutations.

Summary Recent progress in genetic cardiomyopathy points to the potential value of genetic testing in shaping the clinician's ability to diagnose and understand the pathogenetic basis of the inherited cardiomyopathies. The rapid rate at which the field is progressing emphasizes the importance of referral of such patients to multidisciplinary teams equipped to address the complex biological, social and psychological issues that accompany the genetic diagnosis of inherited cardiomyopathy.

Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada

Correspondence to Haissam Haddad, MD, FRCPC, FACC, University of Ottawa Heart Institute, 40 Ruskin Street, Room 1289 C, Ottawa, ON K1Y 4W7, Canada E-mail:

© 2011 Lippincott Williams & Wilkins, Inc.