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From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies

17 Jul 2025

Abstract excerpt

Cardiomyopathies represent a heterogeneous group of myocardial disorders, traditionally classified by phenotype into hypertrophic, dilated, and arrhythmogenic. Historically, these conditions have been attributed to high-penetrance rare variants in key structural genes, consistent with a classical Mendelian pattern of inheritance. However, emerging evidence suggests that this model does not fully capture the full...

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PMID: 40710799
DOI: 10.3390/jcdd12070274

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