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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

Jiri Bonaventura1, Eva Polakova1, Veronika Vejtasova1

  • 1Department of Cardiology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, V Uvalu 84, 15006 Prague, Czech Republic.

International Journal of Molecular Sciences
|October 13, 2021
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease. Genetic testing advances understanding of its complex causes, aiding future treatment strategies for better patient outcomes.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Disease Mechanisms

Background:

  • Hypertrophic cardiomyopathy (HCM) affects up to 1 in 200 individuals, often inherited in an autosomal dominant pattern.
  • Most known pathogenic variants are linked to sarcomeric protein genes, but HCM's genetic basis is increasingly recognized as complex.
  • Thousands of mutations across over 60 genes are associated with HCM, complicating genetic diagnosis and interpretation.

Purpose of the Study:

  • To review the historical context and recent breakthroughs in understanding the genetics of hypertrophic cardiomyopathy.
  • To discuss the integration and clinical utility of molecular genetic testing for HCM.
  • To explore the implications of genetic findings for disease mechanisms and therapeutic development.

Main Methods:

  • Comprehensive literature review of genetic studies in hypertrophic cardiomyopathy.
  • Analysis of current diagnostic approaches using molecular genetic testing.
  • Discussion of variant interpretation challenges and the significance of non-Mendelian forms.

Main Results:

  • HCM genetics is complex, involving numerous genes beyond sarcomeric proteins.
  • Genetic variant interpretation remains challenging, with many variants of uncertain significance identified.
  • Patients without identified pathogenic variants may represent a non-Mendelian form with potentially better prognoses.

Conclusions:

  • Understanding the genetic architecture of HCM is crucial for elucidating disease pathogenesis.
  • Molecular genetic testing is becoming integral to clinical practice for HCM diagnosis and management.
  • Further research into HCM genetics promises novel therapeutic targets and improved patient stratification.

Keywords:
geneticshypertrophic cardiomyopathymolecular genetic testingnext-generation sequencingpathogenic mutationsvariants of uncertain significance

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