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Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry

Tobias J Pfeffer1, Bernd Auber2, Brigitte Pabst2

  • 1Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany.

International Journal of Cardiology
|March 14, 2023
PubMed

Insights

Pathogenic HSPB6 gene variants were not more frequent in peripartum cardiomyopathy (PPCM) patients compared to dilated cardiomyopathy (DCM) patients. Further research is needed to understand the genetic background of PPCM.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Heat shock protein family B (small) member 6 (HSPB6) offers cardioprotection against stress-induced injury.
  • Two HSPB6 gene variants are known in humans, found in 1% of dilated cardiomyopathy (DCM) patients.
  • Peripartum cardiomyopathy (PPCM) is a serious heart condition with unknown causes; 16-20% of PPCM patients carry cardiomyopathy-associated gene variants.

Purpose of the Study:

  • To investigate the prevalence of pathogenic HSPB6 gene variants in patients with peripartum cardiomyopathy (PPCM).

Main Methods:

  • Whole-exome sequencing was conducted on blood samples from 65 PPCM patients in the German PPCM registry.
  • The samples were screened for the presence of HSPB6 gene variants.

Main Results:

  • One PPCM patient in the cohort carried an HSPB6 gene variant of uncertain significance (VUS).
  • This VUS was not linked to amino acid sequence changes.
  • No likely pathogenic or pathogenic HSPB6 variants were identified in the PPCM cohort.

Conclusions:

  • HSPB6 gene variants did not show increased frequency in the studied PPCM cohort compared to DCM patients.
  • Larger and more diverse PPCM cohorts are required to fully elucidate the role of genetic factors in PPCM pathogenesis.
Abstract

Keywords:
Dilative cardiomyopathyHSPB6Heart failurePeripartum cardiomyopathyWhole exome sequencing

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