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目的:探讨河南地区Brugada综合征与DSG2、TTN及GATA4基因变异的相关性。方法:选取100例患者作为研究对象，100名健康体检者作为对照组。检查两组的心电图、超声心动图，留取外周血样，对DSG2、TTN及GATA4基因进行测序，并将结果与标准序列进行对比。结果:研究组心电图检查均发现存在室性心律失常；超声心动图显示右心室扩大，右心室内径和左室舒张内径均显著高于对照组(n P<0.05)。DSG2基因的测序结果显示，60例患者存在变异；n TTN基因测序结果显示50例患者存在变异，共发现11个变异位点；20例患者同时携带GATA4 3处基因变异。n 结论:河南地区DSG2、n TTN及GATA4基因的变异与心律失常Brugada综合征存在相关性。n “,”Objective:To explore the correlation between DSG2, n TTN and GATA4 genes and Brugada syndrome in Henan, China.n Methods:From February 2017 to February 2019, 100 patients with Brugada syndrome and 100 healthy individuals were selected as the study and the control groups, respectively. Electrocardiogram and echocardiography were carried out, and peripheral blood samples was collected. Coding regions of DSG2, n TTN and GATA4 genes were amplified by PCR and sequenced. The results were compared with standard sequences from GenBank.n Results:Electrocardiogram showed that all patients from the study group had ventricular arrhythmia, 87 cases (87%) presented ventricular tachycardia (VT), 84 cases (84%) presented T wave inversion, and 51 cases (51%) presented Epsilon wave. Echocardiography showed that the right ventricle in the study group was enlarged with the inner diameter of the right ventricle being (40.0±13.3)mm, and the right ventricle showed various degree of abnormal systolic function. The enlargement of right atrium accounted for 64%, and the involvement of the left ventricle accounted for 27%. The right ventricular diameter and left ventricular diastolic diameter of the study group were significantly greater than those of the control group (n P<0.05). DNA sequencing showed that 60 patients carried DSG2 gene variants, among which 18 had missense variant of exon 8. Fifty patients carriedn TTN gene variants, including 8 in the A-band domain and 3 in the I-band domain. Twenty patients carried 3 variants of the GATA4gene.n Conclusion:Variants of the DSG2, n TTN and GATA4 genes in Henan region are correlated with the onset of Brugada syndrome.n