Left ventricular hypertrophy is often assumed to indicate hypertrophic cardiomyopathy, but patients with syndromic and metabolic cardiomyopathies can present similarly, risking misclassification. Findings from a retrospective cohort study at the National Cardiovascular Center of China (August 2015–December 2023) highlight this issue, with results presented at the European Society of Cardiology 2025 Congress. 

A total of 97 patients with syndromic and metabolic cardiomyopathies were compared with 194 matched hypertrophic cardiomyopathy controls. Patients underwent genetic testing, histopathological analysis, and cardiac magnetic resonance imaging. Left ventricular hypertrophy was present in 69.1% of syndromic and metabolic cardiomyopathy patients versus 97.9% of hypertrophic cardiomyopathy patients. 

Over a median follow-up of 762 days, major cardiovascular events—including all-cause mortality, heart failure hospitalization, myocardial infarction, stroke, thromboembolism, life-threatening arrhythmias, and major bleeding—occurred in 41.2% of syndromic and metabolic cardiomyopathy patients compared with 11.3% of hypertrophic cardiomyopathy patients. Syndromic and metabolic cardiomyopathy independently predicted adverse outcomes with hazard ratios of 3.72 unadjusted and 2.93 after full adjustment. 

These findings emphasize early genetic and metabolic assessment to guide risk stratification and therapeutic strategies.