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The genetics of cardiomyopathy: Genotyping and genetic counseling

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Opinion statement

Three decades of ongoing research into the identification of genes responsible for both cardiomyopathies and ion channel diseases has facilitated a progressive understanding of the pathophysiology of inherited arrhythmogenic diseases. Recent discoveries in the area of genetics promise to significantly change the current clinical practice of cardiology, as rapid advances in technology and a coincident reduction of costs associated with sequencing have pushed the “translation“ of genomic information from bench to bedside. In turn, clinicians have at their disposal new tools for more accurate diagnosis of diseases, as well as for better calculation of health risks for affected families. It is clear, however, that the integration of genetic analysis into frontline clinical cardiology has not yet occurred, especially for heritable cardiomyopathic processes; no one simplified method exists for diagnosing these complex cardiac disease states. It therefore is important to assess the present and future roles of genetic analysis and counseling in clinical practice and how to assist the transition of genetic screening into current care to ensure the appropriate practical use of genetic tests in the routine clinical setting. The purpose of this discussion is to provide a concise review of recent developments in the field of heritable cardiomyopathies, with specific regard to genetic testing and genetic counseling.

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Authors and Affiliations

  1. Leon H. Carney Division of Cardiology, New York University Langone Medical Center, Smilow Research Building, Room 701, 522 First Avenue, New York, NY, 10016, USA

    Silvia G. Priori

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  1. Steven J. Fowler
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  2. Carlo Napolitano
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  3. Silvia G. Priori
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Correspondence to Silvia G. Priori.

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Fowler, S.J., Napolitano, C. & Priori, S.G. The genetics of cardiomyopathy: Genotyping and genetic counseling. Curr Treat Options Cardio Med 11, 433–446 (2009). https://doi.org/10.1007/s11936-009-0046-0

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