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Updated: Sep 13, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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

Ana Belen Garcia-Ruano1,2, Elena Sola-Garcia1,3, Maria Martin-Istillarty1

  • 1Inherited Cardiac Conditions and Myocardial Diseases Unit, Cardiology Department, University Hospital Jaen, 23007 Jaen, Spain.

Journal of Cardiovascular Development and Disease
|July 25, 2025
PubMed
Summary

Cardiomyopathies are complex heart muscle diseases. Genetic factors range from rare variants to common risk alleles, interacting with lifestyle, influencing disease expression and penetrance.

Keywords:
cardiomyopathygenetic architecturegenetic modifiersincomplete penetranceintermediate effect variantsmonogenic inheritancepersonalized medicinepolygenic risk

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