Syndromic and metabolic cardiomyopathy patients had a 3.7-fold higher risk of major cardiovascular events than hypertrophic cardiomyopathy patients (HR 3.72).
Do patients with syndromic and metabolic cardiomyopathies have worse cardiovascular outcomes compared to matched patients with hypertrophic cardiomyopathy?
Patients with syndromic and metabolic cardiomyopathies face a nearly 3-fold higher risk of major cardiovascular events compared to age- and sex-matched patients with hypertrophic cardiomyopathy, emphasizing the need for accurate differential diagnosis.
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Abstract Background Patients with syndromic and metabolic cardiomyopathies (SMCs) may present with left ventricular hypertrophy (LVH) on initial evaluation, leading to potential misclassification as hypertrophic cardiomyopathy (HCM). This study aimed to summarize the clinical characteristics of SMC patients and compare cardiovascular outcomes between SMC and HCM cohorts. Methods In this retrospective cohort study conducted at the National Cardiovascular Center of China (August 2015-December 2023), SMC diagnoses were confirmed through genetic testing and histopathological analysis of muscle biopsies. HCM controls were matched 1:2 by sex, age, and enrollment year. Baseline assessments included cardiac magnetic resonance (CMR) parameters and genetic profiling. LVH was defined according to the 2023 ESC HCM diagnostic criteria. The primary composite endpoint encompassed all-cause mortality, heart failure hospitalization, myocardial infarction, ischemic/hemorrhagic stroke (excluding transient ischemic attack), thromboembolic events, life-threatening arrhythmias, and ISTH-defined major bleeding. Multivariable Cox regression models were constructed with sequential adjustments: Model 1: Age and sex; Model 2: Additional clinical covariates identified through backward selection. Results Among 291 participants (97 SMC, 194 HCM; 51.2% female), the median age was 26 years (IQR: 13-47). Late gadolinium enhancement (LGE) was present in 73.5% (n=214). LVH prevalence significantly differed between groups (HCM: 97.9% vs. SMC: 69.1%; p0.001). Over a median follow-up of 762 days (IQR: 436-1,291), the primary endpoint occurred more frequently in SMC patients (41.2% vs. 11.3%; p0.001). SMC independently predicted adverse outcomes across adjusted models: · Unadjusted HR: 3.72 (95%CI 2.19-6.33) · Model 1 HR: 3.88 (95%CI 2.28-6.61) · Model 2 HR: 2.93 (95%CI 1.54-5.58) Conclusions SMC patients exhibit distinct clinical trajectories with 3.7-fold higher risk of major cardiovascular events compared to HCM counterparts. These findings underscore the importance of incorporating genetic testing and metabolic screening in the differential diagnosis of LVH, particularly for cases with atypical features. Early recognition of SMC may warrant intensified clinical surveillance and targeted therapeutic interventions.Cumulative event probability curve
Yang et al. (Sat,) reported a other. Syndromic and metabolic cardiomyopathy patients had a 3.7-fold higher risk of major cardiovascular events than hypertrophic cardiomyopathy patients (HR 3.72).