Article

Polygenic Risk Modifies Penetrance and Outcomes in Hypertrophic Cardiomyopathy: Insights from a US-Based Multi-Ancestry Cohort

2026-03-02

Abstract excerpt

<title>Abstract</title> <p>Hypertrophic cardiomyopathy (HCM) has traditionally been considered a Mendelian disease driven by pathogenic/likely pathogenic variants in sarcomere encoding genes (SARC-HCM-P/LP). However, these variants explain only one-third of the HCM cases, and variable penetrance suggests polygenic contributions. Existing HCM polygenic risk scores (PRSs) have been derived primarily from European a...

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Literature Corpus work: a9b4bdd6-df27-598d-b0f4-f2a8a0d3e113
DOI: 10.21203/rs.3.rs-8951716/v1

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