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Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing

Louis, Claudena; Calamaro, Emilyb; Vinocur, Jeffrey, M.b

Current Opinion in Cardiology: January 2018 - Volume 33 - Issue 1 - p 78–86
doi: 10.1097/HCO.0000000000000477
PEDIATRIC CARDIOLOGY: Edited by Mitchell I. Cohen

Purpose of review The modern field of clinical genetics has advanced beyond the traditional teachings familiar to most practicing cardiologists. Increased understanding of the roles of genetic testing may improve uptake and appropriateness of use.

Recent findings Clinical genetics has become integral to the management of patients with hereditary arrhythmia and cardiomyopathy diagnoses. Depending on the condition, genetic testing may be useful for diagnosis, prognosis, treatment, family screening, and reproductive planning. However, genetic testing is a powerful tool with potential for underuse, overuse, and misuse. In the absence of a substantial body of literature on how these guidelines are applied in clinical practice, we use a case-based approach to highlight key lessons and pitfalls. Importantly, in many scenarios genetic testing has become the standard of care supported by numerous class I recommendations; genetic counselors can improve accessibility to and appropriate use and application of testing.

Summary Optimal management of hereditary arrhythmias and cardiomyopathies incorporates genetic testing, applied as per consensus guidelines, with involvement of a multidisciplinary team.

aDepartment of Surgery

bDepartment of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA

Correspondence to Jeffrey M. Vinocur, MD, Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 631, Rochester, NY 14642, USA. Tel: +1 585 275 6096; fax: +1 585 275 7436; e-mail: jeffrey_vinocur@urmc.rochester.edu

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