Abstract
BACKGROUND: Pediatric cardiomyopathies are rare but life-threatening conditions with high mortality. Limited data exists on their clinical features and risk factors, especially in Asian populations, highlighting the need for further research in this area. METHODS: This retrospective cohort study analyzed data from 212 pediatric patients diagnosed with hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), or restrictive phenotype hypertrophic cardiomyopathy (RP-HCM) at a single center in China from October 2012 to October 2023, with follow-up until October 31, 2024. Demographic, clinical, and diagnostic data, as well as follow-up outcomes, were reviewed. Logistic and Cox regression models identified risk factors for in-hospital and long-term mortality. RESULTS: Among the 212 patients, 79.72% (169/212) had HCM, 16.98% (36/212) had RCM, and 3.30% (7/212) had RP-HCM. Infection (75.47%, 160/212) and heart failure (51.42%, 109/212) were common comorbidities. In-hospital mortality was 5.19% (11/212), with follow-up mortality of 20.28% (43/212). The independent risk factors for mortality included left ventricular ejection fraction (LVEF), pulmonary hypertension, and low-density lipoprotein (LDL) levels (P < 0.05). Patients with RP-HCM showed the poorest outcomes, with a follow-up mortality rate of 42.86%. Only 10.4% (22/212) of patients underwent genetic testing, yet the positive detection rate was 63.7% (14/22). CONCLUSIONS: This study underscores the importance of early diagnosis, genetic testing, and integrated management in pediatric cardiomyopathies. LVEF, pulmonary hypertension, and LDL levels are critical prognostic factors, offering insights for risk assessment and management in affected children.