机构：[1]Heart Center, Peking University People’s Hospital, Beijing[2]Anzhen Hospital首都医科大学附属安贞医院[3]Friendship Hospital, Beijing首都医科大学附属北京友谊医院[4]Tongren Hospital, Capital Medical University, Beijing,首都医科大学附属北京同仁医院首都医科大学附属同仁医院[5]Meitan General Hospital, Beijing,[6]Liaoning Fifth People’s Hospital, Shenyang, Liaoning,[7]Shenzhen People’s Hospital, Shenzhen, Guangdong,深圳市人民医院深圳医学信息中心[8]Haidu Hospital, Nan’an, Fujian Province,[9]Yingcheng People’s Hospital, Yincheng, Hubei,[10]First Hospital of Hebei Medical University, Shijiazhuang, Hebei,[11]Third People’s Hospital, Wenzhou, Zhejiang,[12]Second Affiliated Hospital of Xi’an Jiaotong University College of Medicine, Xi’an, Shanxi[13]Bayannaoer Municipal Hospital, Bayannaoer, Inner Mongolia, China[14]Main Line Health Heart Center, Philadelphia, Pennsylvania.
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart muscle disease associated with increased risks of sudden death, particularly in young, otherwise healthy, patients. The pathologic features are progressive myocardial atrophy and fibrofatty replacement. Plakophilin-2 (PKP2) is reported as the most common ARVD/C-causing gene in Western countries. In this study we aimed to determine the prevalence of PKP2 mutations in Chinese patients with ARVD/C and their phenotype characteristics. Genotype and phenotype were investigated in a cohort of 18 unrelated Chinese patients with a clinical diagnosis of ARVD/C. Direct sequencing of PKP2 led to the identification of 5 novel heterozygous mutations (R158K, Q211X, L419S, A793D, and N852fsX930) in 39% of patients (7 of 18) with ARVD/C. Among them, N852fsX930 was found in 3 unrelated young patients who presented with symptomatic ventricular tachyarrhythmia. Nevertheless, no significant difference could be detected between patients with ARVD/C with (n = 7) and without (n = 11) PKP2 mutations with regard to the phenotype characteristics and clinical outcomes. Decreased penetrance was prominent in family members. In conclusion, 5 novel PKP2 mutations were identified in a cohort of symptomatic Chinese patients with ARVD/C. N852fsX930 appeared to be a hot-spot mutation in which patients presented with a severe ARVD/C phenotype, and 2/3 had early onset of arrhythmic events. No significant difference was found in phenotype characteristics between patients with ARVD/C with and without PKP2 mutations. The decreased penetrance indicated that an ARVD/C diagnosis cannot solely rely on genotyping results. (c) 2009 Elsevier Inc. All rights reserved. (Am J Cardiol 2009;103:1439-1444)
基金：
This study was supported by Grant 2007CB512103 of the 973 Program
of China, Beijing, China, Grant 985-2-034-24 of the 985 Project of China,
Beijing, China, and Grant AHA0735474N, American Heart Association,
Dallas, Texas.
第一作者机构：[1]Heart Center, Peking University People’s Hospital, Beijing
共同第一作者：
通讯作者：
通讯机构：[12]Second Affiliated Hospital of Xi’an Jiaotong University College of Medicine, Xi’an, Shanxi[14]Main Line Health Heart Center, Philadelphia, Pennsylvania.
推荐引用方式(GB/T 7714)：
Qiu Xiaoliang,Liu Wenling,Hu Dayi,et al.Mutations of Plakophilin-2 in Chinese With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy[J].AMERICAN JOURNAL OF CARDIOLOGY.2009,103(10):1439-1444.doi:10.1016/j.amjcard.2009.01.356.
APA：
Qiu, Xiaoliang,Liu, Wenling,Hu, Dayi,Zhu, Tiangang,Li, Cuilan...&Zhang, Li.(2009).Mutations of Plakophilin-2 in Chinese With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.AMERICAN JOURNAL OF CARDIOLOGY,103,(10)
MLA：
Qiu, Xiaoliang,et al."Mutations of Plakophilin-2 in Chinese With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy".AMERICAN JOURNAL OF CARDIOLOGY 103..10(2009):1439-1444
