Association of Pathogenic/Likely Pathogenic Inherited Cardiomyopathy Variants With Heart Failure: A TOPMed Multiancestry Analysis.

ABSTRACT:

Objective

To evaluate the prevalence of pathogenic/likely pathogenic inherited cardiomyopathy variants and their association with heart failure in the (TOPMed) TransOmic for Precision of Medicine cohorts.

Methods

A retrospective cohort study using the TOPMed cohorts, including multi-ancestry US adults (≥18 years of age) with sequencing data, was conducted. Pathogenic/likely pathogenic inherited cardiomyopathy variant carrier status was determined based on ClinVar variants classified with two or more stars of evidence. Individuals without pathogenic/likely pathogenic variants were used as the reference group. The primary outcome was heart failure , adjudicated by an expert panel. Cox proportional hazards models assessed the association between carrier status and heart failure

SUBMITTER: Shetty NS 

PROVIDER: S-EPMC12664333 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature