The Role of Genetics in Peripartum Cardiomyopathy

J Cardiovasc Transl Res. 2017 Dec;10(5-6):437-445. doi: 10.1007/s12265-017-9764-y. Epub 2017 Aug 3.


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.

Keywords: Dilated cardiomyopathy; Genetics; Pregnancy.

Publication types

  • Review

MeSH terms

  • Animals
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / epidemiology
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / physiopathology
  • Disease Models, Animal
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Molecular Diagnostic Techniques
  • Pedigree
  • Peripartum Period*
  • Phenotype
  • Pregnancy
  • Pregnancy Complications, Cardiovascular / diagnosis
  • Pregnancy Complications, Cardiovascular / epidemiology
  • Pregnancy Complications, Cardiovascular / genetics*
  • Pregnancy Complications, Cardiovascular / physiopathology
  • Risk Factors

Supplementary concepts

  • Familial dilated cardiomyopathy