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Journal of Cardiovascular Translational Research
Published in: Journal of Cardiovascular Translational Research 5-6/2017

01-12-2017 | Review

The Role of Genetics in Peripartum Cardiomyopathy

Authors: Yi Zhen Joan Lee, Daniel P. Judge

Published in: Journal of Cardiovascular Translational Research | Issue 5-6/2017

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Abstract

Peripartum cardiomyopathy (PPCM) is an uncommon complication of pregnancy. Early case reports identified overlap between familial dilated cardiomyopathy (DCM) and PPCM, although the degree of overlap is largely unknown. Other evidence supporting a contribution from gene mutations in PPCM includes familial occurrence, genome-wide association studies, variable prevalence among different regions and ethnicities, and more recent investigations of panels of genes for mutations among women with PPCM. Murine models implicate the role of altered metabolism and increased free radical stress to the heart during pregnancy, which seems to be involved in the pathogenesis of this condition. Although the true incidence of genetic cardiomyopathy is not yet known among women with PPCM, there is substantial evidence demonstrating that at least 10–15% of affected women have a clear genetic contribution to their condition. With this in mind, family counseling, cascade phenotypic screening, and clinical genetic testing should be considered among women with PPCM.
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Metadata
Title
The Role of Genetics in Peripartum Cardiomyopathy
Authors
Yi Zhen Joan Lee
Daniel P. Judge
Publication date
01-12-2017
Publisher
Springer US
Published in
Journal of Cardiovascular Translational Research / Issue 5-6/2017
Print ISSN: 1937-5387
Electronic ISSN: 1937-5395
DOI
https://doi.org/10.1007/s12265-017-9764-y

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