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The Role of Genetics in Cardiomyopathy

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Pediatric Cardiology

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Abstract

Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually exhibit inappropriate ventricular hypertrophy or dilation and are due to a variety of causes that frequently are genetic. Hypertrophic cardiomyopathy (HCM) is generally transmitted as an autosomal dominant trait, mainly caused by mutations in genes encoding cardiac sarcomere proteins. Dilated cardiomyopathy (DCM) is the most common cause of pediatric cardiomyopathy, associated with over 50% of pediatric cardiomyopathy, and 25–30% have an identifiable familial component. Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by excessive reticulated trabecular wall formation, where children account for 9.5% of all patients. Restricted cardiomyopathy (RCM) is a rare form of pediatric cardiomyopathy with an incidence estimated at 4.5%. Recent progress has provided us novel insights in the field of cardiovascular genetics and in our understanding of the genetic basis of various cardiomyopathies. Increasing numbers in identification and validation of genetic markers of disease risk, disease progression, and response to therapy would eventually improve outcomes and genetic counseling for patients and their families.

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  1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

    Kazuki Kodo & Hiroyuki Yamagishi

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  1. Kazuki Kodo
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  2. Hiroyuki Yamagishi
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Correspondence to Hiroyuki Yamagishi .

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  1. Lurie Children's Hospital, Northwestern Memorial Hospital, Chicago, IL, USA

    Ra-id Abdulla

  2. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, USA

    Stuart Berger

  3. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, USA

    Carl Backer

  4. King's College, University College London, London, UK

    Robert Anderson

  5. Weill Cornell Medical College, Cornell University, New York, USA

    Ralf Holzer

  6. University of Amsterdam, Amsterdam, Noord-Holland, The Netherlands

    Nico Blom

  7. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, IL, USA

    Joshua Robinson

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Kodo, K., Yamagishi, H. (2023). The Role of Genetics in Cardiomyopathy. In: Abdulla, Ri., et al. Pediatric Cardiology. Springer, Cham. https://doi.org/10.1007/978-3-030-42937-9_74-1

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