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Polygenic Background and Penetrance of Pathogenic Variants in Hypertrophic and Dilated Cardiomyopathies

2025-06-22 cardiovascular medicine Title + abstract only
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ImportancePolygenic background modifies variant penetrance in hypertrophic (HCM) and dilated (DCM) cardiomyopathy, diseases with opposing morphologic characteristics and inversely related genetic pathways. Whether polygenic susceptibility for one disease protects against monogenic risk for the other remains unexplored. ObjectiveTo characterize if polygenic background bidirectionally modifies pathogenicity of established rare variants associated with HCM and DCM. DesignCross-sectional study. S...

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