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Updated: Jul 12, 2025

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

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Genetic heterogeneity of cardiomyopathy and its correlation with patient care

Mi Jin Kim1, Seulgi Cha1, Jae Suk Baek1

  • 1Division of Pediatric Cardiology, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

BMC Medical Genomics
|October 31, 2023
PubMed

Insights

Genetic testing identified diverse cardiomyopathy genotypes in Korean patients, aiding personalized management. Specific gene variants like TTN and MYH7 were common in dilated and hypertrophic cardiomyopathy, respectively.

Area of Science:

  • Genetics
  • Cardiology
  • Genomic Medicine

Background:

  • Cardiomyopathy is a heterogeneous heart condition with significant morbidity and mortality.
  • Genetic diagnosis is crucial for accurate classification, management, and counseling of cardiomyopathy patients.

Purpose of the Study:

  • To investigate the genetic spectrum of cardiomyopathy in a Korean population.
  • To correlate genetic findings with the clinical course and outcomes of cardiomyopathy.

Main Methods:

  • Whole-exome sequencing (WES) was performed on 72 Korean patients with cardiomyopathy.
  • Familial information and clinical characteristics were analyzed alongside genotypic data.

Main Results:

  • Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) were the most prevalent types.
  • Genetic variants were identified in 51.4% of patients, with TTN and MYH7 being common in DCM and HCM, respectively.
  • LMNA variants in DCM were associated with worse outcomes compared to TTN or MYH7 variants.

Conclusions:

  • A substantial proportion of cardiomyopathy patients harbor diverse genetic mutations.
  • Genetic diagnosis facilitates personalized disease surveillance and management strategies.
Abstract

Keywords:
CardiomyopathyGenotypePrognosisWhole-exome sequencing

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