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

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.