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Updated: Dec 31, 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

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Genetic testing in patients with hypertrophic cardiomyopathy

Jiří Bonaventura, Josef Veselka

    Vnitrni Lekarstvi
    |January 8, 2020
    PubMed

    Insights

    Hypertrophic cardiomyopathy (HCM), a common inherited heart condition, has a complex genetic basis. Next Generation Sequencing (NGS) offers a faster, cost-effective way to identify genetic variants, aiding clinical management and future disease disruption.

    Area of Science:

    • Cardiovascular Genetics
    • Genomic Medicine
    • Molecular Cardiology

    Background:

    • Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiac condition affecting up to 1 in 200 individuals.
    • HCM is typically autosomal dominant, linked to sarcomeric protein gene variants, but over 2,000 mutations across 27 genes are associated with the disease.
    • Conventional genetic analysis methods are time-consuming and costly due to genetic and allelic heterogeneity.

    Purpose of the Study:

    • To highlight the complexity of hypertrophic cardiomyopathy genetics.
    • To introduce Next Generation Sequencing (NGS) as an efficient diagnostic tool for HCM.
    • To discuss the challenges and benefits of genetic variant interpretation in HCM.

    Main Methods:

    • Utilized Next Generation Sequencing (NGS) for rapid, broad-scale genomic analysis of HCM-associated genes.
    • Discussed the challenges in interpreting numerous genetic variants of uncertain significance identified through large-scale screening.
    • Reviewed the role of clinical scoring systems in predicting genetic testing yield.

    Main Results:

    • NGS enables analysis of numerous genes or whole genomes cost-effectively and accurately.
    • Genetic screening yields vary (20-40%), necessitating careful interpretation of identified variants.
    • Genetic testing facilitates mutation-specific family testing and clinical management.

    Conclusions:

    • Identifying the genetic basis of HCM is crucial for understanding disease mechanisms.
    • Genetic insights into HCM offer opportunities for developing future therapeutic strategies.
    • NGS-based genetic testing is a valuable tool for HCM diagnosis, management, and research.

    Keywords:
    genetic testinggeneticsgenotypehypertrophic cardiomyopathynext generation sequencing

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