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Updated: Jun 10, 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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Distinct Phenotypic Groups and Related Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

Soongu Kwak1,2, Jihoon Kim3, Chan-Soon Park1,2

  • 1Department of Internal Medicine Seoul National University Hospital Seoul Republic of Korea.

Journal of the American Heart Association
|October 11, 2024
PubMed

Insights

This study identified three distinct patient groups for hypertrophic cardiomyopathy (HCM), each with unique risks for sudden cardiac death (SCD) and varying outcomes. Data-driven phenotyping aids in better risk stratification and patient management for HCM.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a complex genetic heart disease with variable clinical outcomes.
  • Sudden cardiac death (SCD) is a significant risk for patients with HCM.
  • Identifying distinct patient phenotypes is crucial for accurate risk stratification.

Purpose of the Study:

  • To identify distinct clinical phenotypes in patients with HCM.
  • To analyze the relationship between these phenotypes and SCD risk factors.
  • To examine the clinical characteristics and outcomes associated with each phenotype.

Main Methods:

  • Retrospective analysis of 1231 HCM patients from two tertiary hospitals.
  • Latent class analysis used to categorize patients into phenotypic groups.
  • Median 6.5-year follow-up to assess clinical outcomes.

Main Results:

  • Three distinct HCM phenotypes were identified.
  • Group 2 (young patients with high SCD risk factors) showed the highest rate of SCD-related events (8.2% at 5 years).
  • Group 3 (older patients) had the highest rates of all-cause and noncardiovascular mortality.

Conclusions:

  • Distinct clinical phenotypes in HCM are associated with different SCD risks and outcomes.
  • Data-driven phenotyping provides effective risk stratification for HCM patients.
  • Phenotype identification can optimize patient management strategies.
Abstract

Keywords:
cardiomyopathy, hypertrophicdeath, sudden, cardiaclatent class analysismortality

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