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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

Hypertrophic cardiomyopathy due to beta-myosin heavy chain mutation with extreme phenotypic variability within a

D I Keller, J Schwitter, E R Valsangiacomo

    International Journal of Cardiology
    |April 1, 2008
    PubMed

    Insights

    Hypertrophic cardiomyopathy (HCM), a genetic heart condition, exhibits significant variability in symptoms and severity even within families. This case report highlights the broad spectrum of phenotypic expression in a family with a MYH7 gene mutation.

    Area of Science:

    • Cardiology
    • Genetics
    • Internal Medicine

    Background:

    • Hypertrophic cardiomyopathy (HCM) is a genetic heart condition affecting 1 in 500 individuals.
    • HCM presents with significant variability in disease severity, genetic causes, and phenotypic patterns.
    • Many individuals with HCM remain undiagnosed throughout their lives.

    Observation:

    • This case report details a family with a confirmed beta-myosin heavy chain (MYH7) mutation.
    • Three family members carrying the MYH7 mutation displayed marked phenotypic variability.
    • The index patient (21M) showed severe HCM with a 29mm septal wall thickness, while his sister (16F) had no detectable hypertrophy.

    Findings:

    • The mother (44F), a mutation carrier, exhibited mild septal hypertrophy (12mm) and systolic anterior motion of mitral valve chordae without obstruction.
    • The varying severity underscores the complex genotype-phenotype correlations in HCM.
    • Previous generations experienced sudden cardiac death, suggesting potential undiagnosed HCM.

    Implications:

    • This family's presentation underscores the wide spectrum of phenotypic variability in HCM.
    • Early genetic testing and comprehensive cardiac evaluation are crucial for affected families.
    • Understanding phenotypic variability aids in predicting disease progression and tailoring management strategies.

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