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Updated: Nov 21, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach
Diana Cimiotti1, Heidi Budde2, Roua Hassoun2
1Department of Clinical Pharmacology, Ruhr-University Bochum, 44801 Bochum, Germany.
Abstract:
The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM) etc. Genetic based RCM, a very rare but severe disease with a high mortality rate, might be induced by mutations in genes of non-sarcomeric, sarcomeric and sarcomere associated proteins. In this review, we discuss the functional effects in correlation to the phenotype and present an integrated model for the development of genetic RCM.
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