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

How is risk of hypertrophic and dilated cardiomyopathy modified by polygenic background?In this cross-sectional study including 49 434 individuals in the Penn Medicine BioBank, polygenic scores for hypertrophic and dilated cardiomyopathies were associated with clinical and echocardiographic measures relevant to both diseases and inversely modified the penetrance of pathogenic variants.The findings indicate that polygenic background exists on an overlapping, opposing spectrum and may contribute to hypertrophic and dilated cardiomyopathy susceptibility.

Corresponding Author: Michael G. Levin, Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd, Smilow 11, Philadelphia, PA 19104 (michael.levin@pennmedicine.upenn.edu).

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