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

ABSTRACT: 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 spectrum and complexity of disease expression. Many patients do not harbor identifiable pathogenic variants, while others carrying well-known disease-causing variants remain unaffected. This highlights the role of incomplete penetrance, likely modulated by additional genetic modifiers. Recent advances in genomics have revealed a broader view of the genetic basis of cardiomyopathies

SUBMITTER: Garcia-Ruano AB 

PROVIDER: S-EPMC12294854 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature