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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort

Marius Šukys1, Eglė Ereminienė2,3, Kristina Aleknavičienė1

  • 1Department of Genetics and Molecular Medicine, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.

International Journal of Molecular Sciences
|January 10, 2026
PubMed

Insights

Genetic testing for hypertrophic cardiomyopathies (HCMs) identified pathogenic variants in 16.7% of patients. Diagnosed individuals showed earlier onset and increased severity, highlighting the importance of genetic screening for HCM.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathies (HCMs) are common genetic disorders, frequently underdiagnosed.
  • Core sarcomere gene panel sequencing is the primary diagnostic method for HCM.
  • Understanding the genetic basis of HCM is crucial for diagnosis and management.

Purpose of the Study:

  • To report the outcomes of genetic testing for hypertrophic cardiomyopathy (HCM) at Lithuania's tertiary care center.
  • To identify the prevalence of genetic diagnoses and the most frequently implicated genes in HCM patients.
  • To investigate the correlation between genetic variants, clinical presentation, and family history in HCM.

Main Methods:

  • Next-generation panel sequencing was performed on 204 patients with diagnosed or suspected HCM.
  • Analysis focused on core sarcomere genes known to be associated with HCM.
  • Clinical data, including age at diagnosis and septal wall thickness, were correlated with genetic findings.

Main Results:

  • A genetic diagnosis was established in 34 (16.7%) of the 204 patients.
  • The most frequently mutated genes were MYBPC3 and MYH7.
  • Patients with identified pathogenic variants were diagnosed younger and had greater septal wall thickness; four novel MYBPC3 variants were discovered.

Conclusions:

  • Genetic testing is effective in diagnosing hypertrophic cardiomyopathy (HCM), identifying variants in a significant patient subset.
  • Pathogenic variants are associated with earlier disease onset and more severe phenotypes, irrespective of family history.
  • The identification of novel variants underscores the complexity of HCM genetics and the need for ongoing research.

Keywords:
diagnostic yieldgenetic testinghypertrophic cardiomyopathy

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