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Genetics of Dilated Cardiomyopathy

  • Heart Failure (HJ Eisen, Section Editor)
  • Published:
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Abstract

Purpose of Review

Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation and systolic function and is the most common among all cardiomyopathies. Familial DCM makes up a significant portion of cases, and approximately 40 genes are identified as involved in the pathogenesis of heart failure, each affecting a specific part of cellular mechanisms. The purpose of this review is to summarize recent findings and the current understanding of the most common gene mutations identified associated with DCM.

Recent Findings

Next-generation sequencing is a comprehensive gene analysis technique used to discover more mutation variants and also to learn about the impact of mutations in relationship to clinical presentations. A variety of techniques are utilized to study different gene mutations, such as genotype-phenotype association analysis or whole-exome sequencing, to understand the natural history of diseases. For certain genetic abnormalities, information is helpful in developing potential therapeutic treatment targeting mutations.

Summary

More treatment options are hopeful with the understanding of specific genetic mutations and their pathogenic mechanism. It also suggests the importance of genetic assessment and counseling for family members of an affected patient, in order to provide potential early diagnosis and better clinical management of DCM.

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Authors and Affiliations

  1. Drexel University College of Medicine, 2900 W. Queen Lane, Philadelphia, PA, 19129, USA

    Yiwen Fu

  2. Cardiac Transplant, Mechanical Circulatory Support and Advanced Heart Failure Programs, Penn State University College of Medicine, Milton S. Hershey Medical Center, Hershey, PA, 17033, USA

    Howard J. Eisen

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Yiwen Fu and Howard J. Eisen declare that they have no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Heart Failure

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Fu, Y., Eisen, H.J. Genetics of Dilated Cardiomyopathy. Curr Cardiol Rep 20, 121 (2018). https://doi.org/10.1007/s11886-018-1061-0

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