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Updated: Sep 25, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Sex-Related Differences in Genetic Cardiomyopathies
Alessia Argirò1,2,3, Carolyn Ho4, Sharlene M Day5
1Cardiomyopathy Unit Careggi University Hospital Florence Italy.
Abstract:
Cardiomyopathies are a heterogeneous collection of diseases that have in common primary functional and structural abnormalities of the heart muscle, often genetically determined. The most effective categorization of cardiomyopathies is based on the presenting phenotype, with hypertrophic, dilated, arrhythmogenic, and restrictive cardiomyopathy as the prototypes. Sex modulates the prevalence, morpho-functional manifestations and clinical course of cardiomyopathies. Aspects as diverse as ion channel expression and left ventricular remodeling differ in male and female patients with myocardial disease, although the reasons for this are poorly understood. Moreover, clinical differences may also result from complex societal/environmental discrepancies between sexes that may disadvantage women. This review provides a state-of-the-art appraisal of the influence of sex on cardiomyopathies, highlighting the many gaps in knowledge and open research questions.
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