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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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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
Summary
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.
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