Evaluation of Women with Peripartum or Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision Medicine Study.

ABSTRACT:

Background

Rare variant genetics have been associated with peripartum cardiomyopathy (PPCM) but the role of genetics remains unsettled.

Objective

The study sought to compare dilated cardiomyopathy (DCM) genetic risk in first-degree relatives (FDRs) of female patients with DCM or PPCM (probands), and to assess DCM-relevant rare variant prevalence in DCM/PPCM probands and population controls.

Methods

Clinical and genetic data were analyzed from the DCM Precision Medicine Study. Risk of DCM or partial DCM, where pDCM was defined as left ventricular (LV) enlargement or a LV ejection fraction of <50%, was estimated in 665 FDRs from 452 female probands, all of whom had been pregnant, of which 67 had PPCM and 385 had DCM; prevalence of pathogenic, likely pathogenic or uncert

SUBMITTER: Kransdorf EP 

PROVIDER: S-EPMC11875307 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature