[Recent research on childhood hypertrophic cardiomyopathy caused by MYH7 gene mutations]

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Updated: Aug 2, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.2K

Kui Zheng1, Lu Liu, Ying-Qian Zhang

  • 1Department of Cardiology, Hebei Children's Hospital/Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease, Shijiazhuang 050031, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|April 19, 2023
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) in children is often caused by MYH7 gene mutations. This review clarifies the complex pathogenesis, clinical features, and treatment for better management of this inherited heart disease.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Context:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic inherited myocardial disease in children.
  • Mutations in sarcomere genes, particularly MYH7, are the leading genetic cause, accounting for 30%-50% of cases.
  • MYH7 gene mutations present complex characteristics including environmental influences, multiple genetic variations, and age-dependent penetrance.

Purpose:

  • To summarize the current understanding of the pathogenesis, clinical phenotypes, and treatment strategies for HCM caused by MYH7 gene mutations in children.
  • To provide a comprehensive overview to aid in the accurate prognostic evaluation and individualized management of affected children.

Summary:

  • MYH7 gene mutations are the most common genetic etiology of pediatric HCM.
  • These mutations lead to diverse clinical phenotypes, including cardiomyopathies and skeletal myopathies, due to environmental factors, polygenicity, and age-dependent penetrance.
  • The precise pathogenesis, disease course, and prognosis of pediatric HCM associated with MYH7 mutations require further elucidation.

Impact:

  • Facilitates improved diagnostic accuracy and prognostic assessment for children with MYH7-related HCM.
  • Supports the development of individualized treatment and management plans for pediatric patients.
  • Highlights the need for further research into the complex mechanisms underlying MYH7-associated cardiomyopathies.

Keywords:
ChildGene mutationHypertrophic cardiomyopathyMYH7 gene

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