Brugada综合征的临床电生理及分子遗传机制研究

项目名称： Brugada综合征的临床电生理及分子遗传机制研究

项目编号： No.81200140

项目类型： 青年科学基金项目

立项/批准年度： 2013

项目学科： 医学一处

项目作者： 马克娟

作者单位： 首都医科大学

项目金额： 23万元

中文摘要： Brugada综合征是一种遗传性心脏离子通道病，病人心脏结构正常，有特征性心电图表现，因致命性室性快速性心律失常发作引起反复晕厥和猝死，国内散发和家族性病例逐年增多，大多数患者以猝死为首发症状，来不及防范和救冶。 既往一系列单从临床或基础角度出发的研究使我们对该病有了初步认识，本项目拟对Brugada综合征进行临床电生理与分子遗传机制研究，从临床与基础两个层面出发，针对收集的每一例病例，建立完整的临床与遗传资料库，总结发病特点、心电图及心内电生理特征、筛查基因及离子通道改变、以及随访预后转归，阐明基因信息、心脏电生理、和临床表现之间的内在联系，建立从临床征象推测基因突变的诊断方法，从基因型评估危险，全面探讨该病的发病机制，寻找早期发现、早期预防和有效的治疗策略。

中文关键词： Brugada综合征；室性心律失常；心电生理；基因；离子通道

英文摘要： The Brugada syndrome is increasingly being recognized in clinical medicine characterized by an ST-segment elevation in the right pericardial electrocardiogram (ECG) leads and a high incidence of sudden death in patients with structurally normal hearts. This syndrome generally manifests during adulthood, especially in males as they enter their third and fourth decades of life. Several dozen mutations have been linked to the syndrome in SCN5A, the gene encoding for the subunit of the sodium channel. In the early years, the concepts of all-or-none repolarization of the ventricular epicardial action potential and of phase 2 reentry were developed as the cellular mechanisms. Study also suggested that among asymptomatic patients, inducibility of VT during electrophysiologic study may be prognostic of risk. In our study, we enroll patients referred to our center for evaluation and treatment after the detection of ECG abnormalities consistent with Brugada syndrome, who would undergo an electrophysiologic study and catheter ablation for symptomatic arrhythmias. We would examine the electrocardiogram and electrophysiologic characteristics in relation to programmed ventricular stimulation - induced ventricular tachycardia in patients with Brugada syndrome. Genomic DNA was extracted from peripheral blood leucocytes of pat

英文关键词： Brugada syndrome；ventricular arrhythmias；cardiac electrophysiology；gene；ion channel