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Updated: Jul 3, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Familial restrictive cardiomyopathy with atrioventricular block without skeletal myopathy
Gustavo Iglesias Cubero1, Gary Lasa Larraya, J Rodríguez Reguero
1Servicio de Cardiología, Hospital Central de Asturias, Julián Clavería s/n, Oviedo, Spain.
Abstract:
Familial restrictive cardiomyopathy is an autosomal dominant cardiomyopathy histologically characterized by myocyte hypertrophy and interstitial fibrosis. The case of a 54-year-old man diagnosed with restrictive cardiomyopathy is reported. The patient had been implanted with a two-chambered pacemaker for a complete atrioventricular block 12 years before. The family history was positive with several affected members, none of whom had findings of skeletal myopathy. Genetic analysis of the index patient revealed no troponin I mutations.
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