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

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

By MedXY|Dec 23, 2025

A large-scale study from the Penn Medicine BioBank demonstrates that polygenic risk scores for hypertrophic and dilated cardiomyopathies act as bidirectional modifiers, influencing the clinical expression of rare pathogenic variants and off

Sex-Specific Genetic Insights into Dilated Cardiomyopathy: The Key Role of Desmoplakin Variants
CardiologyDilated cardiomyopathyGenetic penetrance

Sex-Specific Genetic Insights into Dilated Cardiomyopathy: The Key Role of Desmoplakin Variants

By MedXY|Oct 4, 2025

Desmoplakin gene variants confer a higher risk and penetrance of dilated cardiomyopathy in females, contrasting with male-predominant risks from other genes like TTN. This discovery underscores sex-specific mechanisms in DCM susceptibility

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