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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: An Overview of Genetics and Management

Polakit Teekakirikul1,2,3, Wenjuan Zhu3,4, Helen C Huang5

  • 1Division of Cardiology, Department of Medicine and Therapeutics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.

Biomolecules
|January 1, 2020
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a genetic heart condition causing left ventricular hypertrophy. Genetic insights are improving diagnosis and identifying potential therapies for this diverse cardiac disorder.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a complex cardiac muscle disorder.
  • It is characterized by unexplained left ventricular hypertrophy (LVH) and distinct histopathological features.
  • HCM presents with variable symptoms, from asymptomatic to severe, and can lead to sudden cardiac death (SCD).

Purpose of the Study:

  • To review current knowledge on the clinical genetics of HCM.
  • To discuss the management strategies for patients with HCM.
  • To highlight how genetic insights advance understanding and treatment of HCM.

Main Methods:

  • Review of current scientific literature on hypertrophic cardiomyopathy.
  • Analysis of genetic heterogeneity and its impact on pathogenesis.
  • Synthesis of information on diagnostic and therapeutic approaches.

Main Results:

  • HCM is genetically diverse, often linked to sarcomere protein gene mutations.
  • Autosomal dominant inheritance is typical, but with variable expressivity and incomplete penetrance.
  • Genetic discoveries have improved diagnostic capabilities and identified therapeutic targets.

Conclusions:

  • Understanding the genetic basis of HCM is crucial for diagnosis and management.
  • Gene-based testing aids in identifying at-risk individuals.
  • Further research into molecular pathogenesis may lead to novel therapeutic agents for HCM.

Keywords:
gene mutationgeneticshypertrophic cardiomyopathyinherited cardiomyopathysarcomere

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