Article
Polygenic Background and Penetrance of Pathogenic Variants in Hypertrophic and Dilated Cardiomyopathies.
JAMA cardiology - 1 Feb 2026
Abramowitz Sarah A, Hoffman-Andrews Lily, Zhang David, Judy Renae, Cappola Thomas P, Day Sharlene M, Reza Nosheen, Owens Anjali T, Damrauer Scott M, Levin Michael G
Abstract excerpt
Importance: Polygenic background modifies variant penetrance in hypertrophic (HCM) and dilated (DCM) cardiomyopathies, diseases with opposing morphologic characteristics and inversely related genetic pathways. Whether polygenic susceptibility for one disease protects against monogenic risk for the other remains uncertain. Objective: To characterize if polygenic background bidirectionally modifies pathogenicity of...
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