04Jun 2023
Clinical characteristics of heart failure with reduced ejection fraction patients with rare pathogenic variants in dilated cardiomyopathy‐associated genes: A subgroup analysis of the PARADIGM‐HF trial

Clinical characteristics of heart failure with reduced ejection fraction patients with rare pathogenic variants in dilated cardiomyopathy‐associated genes: A subgroup analysis of the PARADIGM‐HF trial

This study conducted a post hoc analysis of the Phase 3 PARADIGM-HF trial to assess the prevalence of pathogenic variants in genes associated with dilated cardiomyopathy (DCM) in a population with heart failure and reduced ejection fraction (HFrEF). Forty-four genes were analyzed, categorized into three tiers based on the strength of their association with DCM. The analysis revealed that approximately 5% of HFrEF patients carried rare predicted loss-of-function variants in the eight tier-1 genes, with Titin being the most commonly affected gene. The prevalence increased to 7.5% when considering all 44 genes. Patients with these variants were younger, had lower ejection fraction, and were less likely to have an ischaemic cause for their condition.

  • #cardiology

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