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发热诱导的Brugada波与SCN5A基因变异的研究
引用本文:潘佳君,石川,刘艳,陈秋静,陆林,金玮. 发热诱导的Brugada波与SCN5A基因变异的研究[J]. 内科理论与实践, 2010, 5(2): 173-176. DOI: 10.16138/j.1673-6087.a0402
作者姓名:潘佳君  石川  刘艳  陈秋静  陆林  金玮
作者单位:上海交通大学医学院附属瑞金医院心内科;
摘    要:
目的:探讨1例发热诱导的心电图Brugada波患者的临床特征并分析其与热敏感相关的SCN5A基因位点的变异情况。方法:分析1例50岁汉族男性发热诱导的Brugada波患者的临床表现,并采用PCR-直接测序法对与热敏感相关的SCN5A基因位点进行变异检测。结果:心电图示Brugada波改变,其抬高的ST段随体温控制逐渐回复。在基因变异研究中,未发现该患者的SCN5A基因存在与发热诱导的Brugada综合征有关的L325R(T→974G)、R535X(C→1603T)、H681P(A→2042C)和F1344S(T→4031C)4个突变。结论:该患者Brugada波的热敏感现象并非由SCN5A基因的4个变异位点引起,发热与Brugada波的关系复杂,有待深入研究。

关 键 词:Brugada综合征  发热  SCN5A基因  

The relationship between Brugada-like electrocardiographic pattern unmasked by fever and SCN5A gene variations
PAN Jia-jun,SHI Chuan,LIU Yan,CHEN Qiu-jing,LU Lin,JIN Wei. The relationship between Brugada-like electrocardiographic pattern unmasked by fever and SCN5A gene variations[J]. Joournal of Internal Medicine Concepts& Practice, 2010, 5(2): 173-176. DOI: 10.16138/j.1673-6087.a0402
Authors:PAN Jia-jun  SHI Chuan  LIU Yan  CHEN Qiu-jing  LU Lin  JIN Wei
Affiliation:PAN Jia-jun,SHI Chuan,LIU Yan,CHEN Qiu-jing,LU Lin,JIN Wei.Department of Cardiology,Ruijin Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200025,China
Abstract:
Objective To report a case of Brugada-like electrocardiographic pattern induced by fever,investigating the clinical presentations and analyzing the possible genetic association with SCN5A gene.Methods The clinical features were studied and the genetic variations of SCN5A gene were detected by PCR-sequencing in the patient.Results The patient was a 50-year-old man of Han nationality.His clinical manifestations,electrocardiograms and other examinations supported the diagnosis of Brugada-like electrocardiograp...
Keywords:Brugada syndrome  fever  SCN5A gene  
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