发热诱导的Brugada波与SCN5A基因变异的研究

The relationship between Brugada-like electrocardiographic pattern unmasked by fever and SCN5A gene variations

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。

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 electrocardiographic pattern secondary to acute appendicitis.Serial electrocardiograms showed progressive attenuation of ST segment elevation as body temperature gradually returned to normal.Further analyzing the genetic predisposition,we screened 4 loci in SCN5A gene previously reported to be associated with Brugada syndrome sensitive to hyperthermia.L325R（T→974G）,R535X（C→1603T）,H681P（A→2042C） and F1344S（T→4031C）mutations were not found in the patient.Conclusions Brugada-like electrocardiographic pattern induced during febrile state is not associated with the above 4 mutations of SCN5A gene in the case.The relationship between fever and Brugada-like electrocardiographic pattern is complicated and needs further assessment.