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Updated: Jan 17, 2026

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

Published on: August 8, 2022

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Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy

Lan-Lan Zhang1, Bo Wang1, Jing Wang1

  • 1Department of Ultrasound, Xijing Hypertrophic Cardiomyopathy Center, Fourth Military Medical University, Xi'an 710000, Shaanxi Province, China.

World Journal of Cardiology
|September 15, 2025
PubMed

Insights

Hypertrophic cardiomyopathy (HCM), a common genetic heart condition, affects 1:200 people. This review covers its diagnosis, pathology, genetics, and genotype-phenotype correlations, crucial for understanding this cause of sudden cardiac death.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic cardiovascular disease, often inherited autosomally dominant.
  • It presents complex clinical phenotypes and gene expression, affecting 1:500-1:200 individuals globally.
  • HCM is a primary cause of sudden death in young individuals and athletes during exercise.

Purpose of the Study:

  • To review the diagnostic criteria for HCM.
  • To outline the pathological manifestations of HCM.
  • To discuss the genetic basis and genotype-phenotype correlations in HCM.

Main Methods:

  • Literature review of diagnostic criteria.
  • Analysis of pathological findings.
  • Review of genetic studies and genotype-phenotype relationships.

Main Results:

  • HCM diagnosis relies on specific criteria, revealing characteristic pathological changes.
  • Genetic basis involves various genes, with significant familial clustering (60-70%).
  • Emerging data links specific genotypes to diverse clinical phenotypes in HCM patients.

Conclusions:

  • Understanding HCM's diagnostic, pathological, and genetic aspects is vital.
  • Further research into genotype-phenotype correlations can personalize HCM management.
  • HCM remains a significant concern due to its prevalence and association with sudden cardiac death.

Keywords:
GenotypeHypertrophic cardiomyopathyPhenotypeSarcomereThick myofilamentThin myofilament

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