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J Am Heart Assoc. 2024;13(20):e036245.

Distinct Phenotypic Groups and Related Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

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제1저자 곽순구, 김지훈 · 교신저자 김형관, 이상철

PMID 39392146 PMC11935599 DOI 10.1161/JAHA.124.036245 IF 6 순환기내과
소속 (3)
  1. Department of Internal Medicine Seoul National University Hospital Seoul Republic of Korea.
  2. Cardiovascular Center Seoul National University Hospital Seoul Republic of Korea.
  3. Division of Cardiology, Department of Medicine, Samsung Medical Center Heart Vascular Stroke Institute, Sungkyunkwan University School of Medicine Seoul Korea.

Abstract

BACKGROUND Hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder with varying risks of clinical outcomes, including sudden cardiac death (SCD). We aimed to identify distinct phenotypes among patients with HCM in relation to SCD risk factors, interpret their clinical characteristics, and examine their outcomes.

METHODS AND RESULTS This retrospective study analyzed 1231 consecutive patients with HCM from 2 tertiary hospitals. We performed latent class analysis to categorize patients into phenotypic groups. Three distinct phenotypic groups were identified using latent class analysis. Group 1 (n=554) consisted of young patients with HCM with minimal SCD risk factors and favorable cardiac remodeling. Group 2 (n=114) comprised young patients with HCM and a high prevalence of SCD risk factors, whereas Group 3 (n=563) included older patients (median age, 68 years). Over a median 6.5-year follow-up, 34 SCD-related events, 131 cardiovascular events, 133 all-cause mortality events, and 70 noncardiovascular mortality events were observed. Group 2 exhibited the highest rate of SCD-related events (5-year SCD rate: Group 1 versus 2 versus 3: 0.8% versus 8.2% versus 4.0%, respectively, P<0.001), and cardiovascular events were more frequent in Groups 2 and 3 compared with Group 1. All-cause and noncardiovascular mortality were the most frequent in Group 3. A simplified decision tree was developed for the straightforward assignment of phenotypic group membership, demonstrating fair concordance.

CONCLUSIONS This study identified 3 distinct clinical phenotypes in patients with HCM, each associated with different SCD risks and outcomes. Data-driven phenotyping of patients with HCM offers effective risk stratification and may optimize patient management.

Keywords

cardiomyopathy, hypertrophicdeath, sudden, cardiaclatent class analysismortality

Figures

Figure 1
Figure 1 Marginal probabilities of each variable category for the 3 phenotypic groups. The marginal probabilities indicate the average likelihood of any patient in a specific group having a positive outcome for a given category. LA indicates left atrial; LV, left ventricular; SCD, sudden cardiac death; and VT, ventricular tachycardia.
Figure 2
Figure 2 Cumulative survival probability free from adverse clinical events by phenotypic groups. Survival probabilities free from (A) SCD‐related events, (B) cardiovascular events, (C) all‐cause mortality, and (D) noncardiovascular mortality. SCD indicates sudden cardiac death.
Figure 3
Figure 3 Simplified decision tree for assigning phenotypic group membership. A, A simplified decision tree was developed using age and SCD risk score to assign phenotypic group membership. B, Confusion matrix between the original phenotypic group membership and classification by the decision tree. The percentage of patients in each category is shown. HCM indicates hypertrophic cardiomyopathy; LCA, latent class analysis; and SCD, sudden cardiac death.
Figure 4
Figure 4 Phenotypic groups in population with HCM and their clinical outcomes. A, Three distinct phenotypic groups were identified using LCA. Principal component analysis was performed to reduce the dimensionality of the data set and visualize individuals within a 2‐dimensional plane. Each individual was color coded according to their assigned phenotypic group using LCA, which demonstrated distinct group separation. B, A simplified decision tree for the phenotypic classification of the population with HCM. The resulting groups aligned well with the original phenotypic groups derived from the LCA, thus providing improved interpretability and clinical applicability. C, Clinical outcomes differed significantly across phenotypic groups. Group 2 had the highest incidence of SCD‐related and cardiovascular events, whereas Group 3 exhibited the highest rates of all‐cause and noncardiovascular mortality. Phenotypic classification improves the prediction of clinical outcomes and may guide tailored patient care in individuals with HCM. HCM indicates hypertrophic cardiomyopathy; LCA, latent class analysis; and SCD, sudden cardiac death.

그림 출처: PubMed Central 공개 논문 (PMC11935599)

그 밖의 정보
출판 형태
Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't
저널
Journal of the American Heart Association · eISSN 2047-9980
전자 출판
2024-10-11
MeSH
Humans · Cardiomyopathy, Hypertrophic* / mortality / complications / diagnosis / epidemiology · Male · Female · Retrospective Studies · Phenotype* · Death, Sudden, Cardiac* / epidemiology / etiology · Aged · Middle Aged · Risk Factors · Risk Assessment / methods · Adult · Prognosis · Ventricular Remodeling
참고문헌
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