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Review
. 2021 Jun 21;42(24):2384-2396.
doi: 10.1093/eurheartj/ehab286.

Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know

Upasana Tayal  1   2 , James S Ware  1   2   3 , Neal K Lakdawala  4 , Stephane Heymans  5   6   7 , Sanjay K Prasad  1   2
Affiliations
Review

Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know

Upasana Tayal et al. Eur Heart J. .

Abstract

There is increasing understanding of the genetic basis to dilated cardiomyopathy and in this review, we offer a practical primer for the practising clinician. We aim to help all clinicians involved in the care of patients with dilated cardiomyopathy to understand the clinical relevance of the genetic basis of dilated cardiomyopathy, introduce key genetic concepts, explain which patients and families may benefit from genetic testing, which genetic tests are commonly performed, how to interpret genetic results, and the clinical applications of results. We conclude by reviewing areas for future research in this dynamic field.

Keywords: Dilated cardiomyopathy; Genetics; Heart.

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Figures

None
DCM genetics- what the practising clinician needs to know.
Figure 1
Figure 1
Genetic architectures. Diseases with a genetic component may have monogenic, oligogenic, or polygenic architectures, or a multifactorial process. Our current understanding of the genetic architecture of dilated cardiomyopathy (DCM) supports a likely monogenic and oligogenic basis, though this may be revised as our understanding of common genetic variants develops.
Figure 2
Figure 2
Genes most robustly associated with monogenic dilated cardiomyopathy, grouped by their location within the cardiomyocyte. For clarity, genes associated with syndromic forms of dilated cardiomyopathy have not been included. Graphics created by Elfy Chiang (elfylandstudios.com).
Figure 3
Figure 3
Approach to genetic testing in dilated cardiomyopathy. CMR, cardiac magnetic resonance; ICD, implantable cardioverter-defibrillator; LP, likely pathogenic; P, pathogenic.
See this image and copyright information in PMC

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