Abstract
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) patients in China exhibit unique genetic and clinical characteristics. There is a lack of prognostic models specific to Chinese ACM patients. OBJECTIVES: This study aims to establish a large, national ACM patient cohort with uniformly collected, high-quality data for future risk prediction. METHODS: This study includes patients with definite or borderline ACM diagnoses, along with their genotype-positive relatives. At baseline, comprehensive data collection includes medical history, electrocardiograms, imaging data, genetic testing, and laboratory evaluations. Outcome data include heart failure events and malignant ventricular arrhythmias. RESULTS: As of September 2024, the registry has enrolled 622 participants, including 552 probands (88.7%) and 70 family members (11.3%) carrying ACM-related variants. Preliminary cohort includes 577 patients (92.8%), of whom 495 were diagnosed with definite arrhythmogenic right ventricular cardiomyopathy. The median age of symptom onset was 33.0 years (Q1-Q3: 22.0-45.0 years), with 41.6% experiencing arrhythmia-related symptoms. Abnormal electrocardiogram findings included T-wave inversion (72.7%) and epsilon waves (24.8%) in leads V(1) to V(3). Imaging evaluation revealed RV dilatation in 44.6% and left ventricular dilatation in 29.8%, with a mean left ventricular ejection fraction of 53.0% ± 14.5%. Regarding outcomes, malignant ventricular arrhythmias occurred in 255 (40.1%) individuals, while 21.9% developed end-stage heart failure, including 35 individuals who died of heart failure and 101 patients who underwent heart transplantation. CONCLUSIONS: The ChinaCORE ACM (China Multi-Center Cohort Study on Risk Evaluation of Arrhythmogenic Cardiomyopathy) registry is a national, longitudinal, observational cohort study. This study contributes to expanding the understanding of the disease spectrum of Chinese ACM patients and improving prognostic predictions.