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Advances in Heart Failure

Progress With Genetic Cardiomyopathies

Screening, Counseling, and Testing in Dilated, Hypertrophic, and Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Ray E. Hershberger, MD; Jason Cowan, MS; Ana Morales, MS, CGC and Jill D. Siegfried, MS, CGC

From the Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla.

Correspondence to Ray E. Hershberger, MD, Cardiovascular Division, Clinical Research Building, C-205, University of Miami Miller School of Medicine, 1120 NW 14th Str., Miami, FL 33136. E-mail rhershberger{at}med.miami.edu

This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy, with salient features of hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy, regarding genetic etiology, genetic testing, and genetic counseling. Enormous progress has recently been made in identifying genetic causes for each cardiomyopathy, and key phenotype and genotype information is reviewed. Clinical genetic testing is rapidly emerging with a principal rationale of identifying at-risk asymptomatic or disease-free relatives. Knowledge of a disease-causing mutation can guide clinical surveillance for disease onset, thereby enhancing preventive and treatment interventions. Genetic counseling is also indicated for patients and their family members regarding the symptoms of their cardiomyopathy, its inheritance pattern, family screening recommendations, and genetic testing options and possible results.

Key Words: arrhythmia • cardiomyopathy • genetics • genetic counseling • genetic testing