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Introduction to Hereditary Cardiomyopathies

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Clinical Cardiogenetics

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Abstract

Cardiomyopathies are myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular heart disease, and congenital heart disease sufficient to explain the observed myocardial abnormality. We describe five main cardiomyopathy subtypes as outlined by the European Society of Cardiology: hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, restrictive cardiomyopathy, and non-compaction cardiomyopathy. All show substantial overlap, both clinically and genetically. For each cardiomyopathy subtype, multiple disease genes have been identified, and mutations in several genes can cause different subtypes. In addition to hereditary cardiomyopathies, several nongenetic causes can result in cardiomyopathy, which can be very difficult to distinguish clinically.

All hereditary cardiomyopathies are characterized by incomplete penetrance, meaning that some mutation carriers will remain unaffected during their entire life, and variable expression, i.e., the type and severity of the disease can vary widely, even within families. The availability of diagnostic and management guidelines for different cardiomyopathies should improve the outcome of these patients and aid the clinician to identify the many rare presentations of cardiomyopathies that all can be part of a wider spectrum of multi-organ, systemic, or syndromic diseases.

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Authors and Affiliations

  1. Departments of Genetics (P.A.v.d.Z.) and Cardiology (M.P.v.d.B.), University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

    Paul A. van der Zwaag & Maarten P. van den Berg

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  1. Paul A. van der Zwaag
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Correspondence to Paul A. van der Zwaag .

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Editors and Affiliations

  1. Consultant Cardiologist at the OLVG Hospital, Amsterdam, The Netherlands

    Hubert F. Baars

  2. Utrecht University, Utrecht, The Netherlands

    Pieter A. F. M. Doevendans

  3. Amsterdam University Medical Center, Amsterdam, The Netherlands

    Arjan C. Houweling

  4. University Medical Center Utrecht, Utrecht, The Netherlands

    J. Peter van Tintelen

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van der Zwaag, P.A., van den Berg, M.P. (2020). Introduction to Hereditary Cardiomyopathies. In: Baars, H.F., Doevendans, P.A.F.M., Houweling, A.C., van Tintelen, J.P. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-030-45457-9_3

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  • DOI: https://doi.org/10.1007/978-3-030-45457-9_3

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