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Updated: Jul 21, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
A Family with Myh7 Mutation and Different Forms of Cardiomyopathies
Bianca Iulia Catrina1,2, Florina Batar3, Georgiana Baltat4
1Department Basic Science-Physiopathology, Faculty of Medicine, "Lucian Blaga" University, 550169 Sibiu, Romania.
Insights
A family with a MYH7 gene mutation showed three cardiomyopathy phenotypes, including hypertrophic cardiomyopathy and dilated cardiomyopathy. This mutation is linked to a high risk of sudden cardiac death (SCD), necessitating implantable cardioverter-defibrillators (ICDs).
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
Background:
- Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are prevalent heart muscle diseases.
- These conditions often stem from genetic mutations in sarcomere protein genes.
Observation:
- A family presented with diverse cardiomyopathy phenotypes, including HCM and DCM, across multiple members.
- Genetic analysis identified a pathogenic variant in the MYH7 gene in affected individuals.
- The MYH7 gene encodes the myosin heavy-chain β (MHC-β) isoform crucial for cardiac contractility.
Findings:
- The MYH7 mutation segregated within the family, manifesting in three distinct cardiomyopathy phenotypes.
- Affected family members exhibited varying cardiac imaging findings and required implantable cardioverter-defibrillators (ICDs).
- A significant association was observed between the MYH7 mutation and an elevated risk of sudden cardiac death (SCD).
Implications:
- This study highlights the MYH7 gene's role in diverse cardiomyopathy presentations.
- Genetic screening for MYH7 variants may be crucial for families with unexplained cardiomyopathies.
- The findings underscore the importance of ICDs for primary and secondary prevention of SCD in affected individuals.
Background:
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. In this study, we describe a variant in the MHY7 gene, segregating in a family having three different phenotypes of cardiomyopathies. MYH7 encodes for the myosin heavy-chain β (MHC-β) isoform involved in cardiac muscle contractility.
Method And Results:
We present the case of a family with four members diagnosed with HCM and four members with DCM. The proband is a 42-year-old man diagnosed with HCM. He has an extended family of eight siblings; two of them are diagnosed with HCM and are implantable cardioverter-defibrillator (ICD) carriers. One of the siblings died at the age of 23 after suffering a sudden cardiac arrest and DCM of unknown etiology which was diagnosed at autopsy. Another brother was diagnosed with DCM during a routine echocardiographic exam. Genetic testing was performed for the proband and two of his siblings and a niece of the proband, who suffered a cardiac arrest at the age of nine, all being MYH7 mutation positive. For all four of them, cardiac imaging was performed with different findings. They are ICD carriers as well.
Conclusions:
Our results reveal three variants in phenotypes of cardiomyopathies in a family with MYH7 mutation associated with high SCD risk and ICD needed for primary and secondary prevention.
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