The Role of Genetics in Peripartum Cardiomyopathy

Yi Zhen Joan Lee, Daniel P. Judge

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1-9
Number of pages9
JournalJournal of Cardiovascular Translational Research
DOIs
StateAccepted/In press - Aug 3 2017

Fingerprint

Peripartum Period
Cardiomyopathies
Mutation
Pregnancy Complications
Genome-Wide Association Study
Genetic Testing
Genes
Free Radicals
Counseling
Pregnancy
Incidence

Keywords

  • Dilated cardiomyopathy
  • Genetics
  • Pregnancy

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Pharmaceutical Science
  • Cardiology and Cardiovascular Medicine
  • Genetics(clinical)

Cite this

The Role of Genetics in Peripartum Cardiomyopathy. / Lee, Yi Zhen Joan; Judge, Daniel P.

In: Journal of Cardiovascular Translational Research, 03.08.2017, p. 1-9.

Research output: Contribution to journalArticle

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