Nina Ghosh1, Haissam Haddad. 1. Division of Cardiology, University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa, Ontario, Canada.
Abstract
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.
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.