【摘要】 目的：确定中国致心律失常性右心室心肌病（ARVC）患者相关基因突变的患病率，并探索潜在的基因型-表型关系。方法：根据2010年修订的国际专家组的ARVC诊断标准，对32例有症状且临床诊断为ARVC的汉族患者的基因型和表型进行研究。结果：18例（18/32,56.3%）患者中发现了4个桥粒基因PKP2、desmoplakin(DSP)、desmoglein-2 (DSG2)、desmocollin-2(DSC2)中17个突变，包括6个新突变（6/17,35.3%）；非桥粒基因未发现突变。32例患者检测到的突变中，PKP2突变11例（11/32,34.4%）,DSP突变3例（3/32,9.4%）,DSG2突变3例（3/32,9.4%）,DSC2突变4例（4/32,12.5%）。5例（5/32,15.6%）患者出现多个突变。基因型-表型分析未显示携带突变患者与未携带患者的任何差别。结论：PKP2突变是本组ARVC队列中最常见的突变基因，在本研究中未发现非桥粒基因突变。更多还原

【Abstract】 Objectives: To determine the prevalence of associated gene mutations in arrhythmogenic right ventricular cardiomyopathy(ARVC) patients and explore the potential genotype-phenotypic relationship.Methods: Genotypic and phenotypic profiles were studied in 32 symptomatic Han Chinese with a clinical diagnosis of ARVC according to modified international Task Force Criteria in 2010.Results: 17 mutations including 6(6/17, 35.3%) novel mutations in 4 desmosomal genes plakophilin-2(PKP2),desmoplakin(DSP), desmoglein-2(DSG2), desmocollin-2(DSC2), were identified in 18(18/32, 56.3%) patients. No mutations were found in extra-desmosomal genes. Among 32 patients, 11(11/32, 34.4%) patients have PKP2 mutations, 3(3/32,9.4%) have DSP, 3(3/32, 9.4%) have DSG2, 4(4/32, 12.5%) have DSC2 mutations. Multiple mutations were found in 5patients(5/32, 15.6%). Genotype-phenotype analysis did not show any difference between patients with and without mutation.Conclusion: PKP2 mutation is the most common gene mutations in this ARVC cohort. Extra-desmosomal genes mutations are rare in Chinese patients with ARVC.更多还原