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The Role of Genetics in Peripartum Cardiomyopathy

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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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  1. Center for Inherited Heart Disease, Johns Hopkins University, 720 Rutland Avenue, Ross 1049, Baltimore, MD, 21205, USA

    Yi Zhen Joan Lee & Daniel P. Judge

  2. Division of Cardiology, Medical University of South Carolina, Charleston, SC, USA

    Daniel P. Judge

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Dr. Lee has no potential conflicts of interest. Dr. Judge has received payment as a scientific advisor to Alnylam, Array Biopharma, GlaxoSmithKline, Invitae, MyoKardia, and Pfizer. This review article does not contain any studies with human participants or animals performed by any of the authors.

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Associate Editor Paul J. R. Barton oversaw the review of this article

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Lee, Y.Z.J., Judge, D.P. The Role of Genetics in Peripartum Cardiomyopathy. J. of Cardiovasc. Trans. Res. 10, 437–445 (2017). https://doi.org/10.1007/s12265-017-9764-y

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