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Genetic Tug-of-War: How Polygenic Background Dictates the Penetrance and Phenotype of Monogenic Cardiomyopathies

MedXY Editorial Team•Dec 23, 2025•Cardiology
cardiomyopathyGenetic penetrancePolygenic Risk Scoresprecision medicine

Highlights

Polygenic susceptibility for hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) exists on an overlapping but opposing spectrum, where risk for one phenotype can actively protect against the other.

In a cohort of nearly 50,000 participants, a 1-SD increase in HCM polygenic score (PGS) was associated with an 80% increased risk of HCM and a 31% decreased risk of DCM.

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This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.

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