【Objective】 The purpose of this study was to evaluate the long-term clinical outcomes and genetics of ARVC in China. 【Methods】 Forty subjects fulfilling modified task force criteria were included. Information on clinical presentation

electrocardiographic and cardiac imaging findings

and outcome of cases were underwent investigation. Genomic DNA was screened for mutations in DSP gene. 【Results】 The mean age at onset of symptoms (32.2 ± 12.7 years) and male predominance (85.0%) were similar to that reported in other studies. Palpitations were the most frequent symptom (82.5%)

followed by syncope (22.5%). T-wave inversion was the most common presenting abnormality on resting 12-lead ECG (75%)

followed by localized QRS prolongation (45%) and epsilon waves (35%). Ventricular tachycardia with left bundle branch block morphology was subsequently documented in a total of 28 (70%) subjects during a study period. The cumulative mortality rate was 7.5%. Six DSP gene mutations were found in 7/32 (21.9%) unrelated participants

three being novel. Compound heterozygotes exhibited a severe phenotype in three patients. The right ventricular volume and left ventricular volume ratio (RV/LV ratio) was significant increased in the patients with DSP mutation compared to other ARVC patients (1.33 ± 0.24 vs 1.28 ± 0.14

P < 0.05). Survival time in patients with DSP mutation was similar to other ARVC patients. 【Conclusion】 ARVC is associated with early mortality that is different to other countries population. Patients with DSP gene mutation have lager RV/LV ratio.