Abstract：
BACKGROUND: Brugada syndrome (BrS) is characterized by ST-segment elevation in the right precordial leads, which is not explained by ischemia, electrolyte disturbances, or obvious structural heart disease.
OBJECTIVE: In present study, we aim to evaluate presentation, long-term outcome, genetic findings, and therapeutic interventions in patients with BrS.
METHODS: Between September 2001 and June 2022, all consecutive patients with diagnosis of BrS were enrolled in the present study. All patients gave written informed consent for the procedure, and the local ethical committee approved the study.
RESULTS: Of the 76 cases, 79% were proband and 21% were detected during screening after diagnosis of BrS in a family member. Thirty-three (43%) patients had a typical spontaneous electrocardiogram (ECG) pattern. Thirty percent of the patients were symptomatic; symptomatic patients were more likely to have spontaneous type 1 Brugada ECG pattern in their ECGs (p = .01), longer PR interval (p = .03), and SCN5A mutation (p = .01) than asymptomatic patients. The mean PR interval was considerably longer in men than women (p = .034). SCN5A mutation was found in 9 out of 50 (18%) studied patients. Fifteen percent received appropriate implantable cardioverter-defibrillator (ICD) therapy and inappropriate ICD interventions were observed in 17%. Presentation with aborted SCD or arrhythmic syncope was the only predictor of adverse outcome in follow-up (odds ratio: 3.1, 95% confidence interval: 0.7-19.6, p = .001).
CONCLUSIONS: Symptomatic patients with BrS are more likely to present with spontaneous type 1 Brugada ECG pattern, longer PR interval, and pathogenic mutation in SCN5A gene. Appropriate ICD interventions are more likely in symptomatic patients and those with SCN5A mutation.
OBJECTIVE: In present study, we aim to evaluate presentation, long-term outcome, genetic findings, and therapeutic interventions in patients with BrS.
METHODS: Between September 2001 and June 2022, all consecutive patients with diagnosis of BrS were enrolled in the present study. All patients gave written informed consent for the procedure, and the local ethical committee approved the study.
RESULTS: Of the 76 cases, 79% were proband and 21% were detected during screening after diagnosis of BrS in a family member. Thirty-three (43%) patients had a typical spontaneous electrocardiogram (ECG) pattern. Thirty percent of the patients were symptomatic; symptomatic patients were more likely to have spontaneous type 1 Brugada ECG pattern in their ECGs (p = .01), longer PR interval (p = .03), and SCN5A mutation (p = .01) than asymptomatic patients. The mean PR interval was considerably longer in men than women (p = .034). SCN5A mutation was found in 9 out of 50 (18%) studied patients. Fifteen percent received appropriate implantable cardioverter-defibrillator (ICD) therapy and inappropriate ICD interventions were observed in 17%. Presentation with aborted SCD or arrhythmic syncope was the only predictor of adverse outcome in follow-up (odds ratio: 3.1, 95% confidence interval: 0.7-19.6, p = .001).
CONCLUSIONS: Symptomatic patients with BrS are more likely to present with spontaneous type 1 Brugada ECG pattern, longer PR interval, and pathogenic mutation in SCN5A gene. Appropriate ICD interventions are more likely in symptomatic patients and those with SCN5A mutation.
摘要：
背景：Brugada综合征（BrS）的特征是右心前导联的ST段抬高，这不能用缺血来解释，电解质干扰，或者明显的结构性心脏病.
目的：在本研究中，我们的目标是评估演示文稿，长期结果，遗传发现,以及对BrS患者的治疗干预。
方法：在2001年9月至2022年6月之间，所有诊断为BrS的连续患者均纳入本研究。所有患者都对手术给予书面知情同意书，当地伦理委员会批准了这项研究。
结果：76例中，79％是先证者，21％是在家庭成员中诊断为BrS后的筛查中检测到的。33例（43％）患者具有典型的自发心电图（ECG）模式。30％的患者有症状；有症状的患者更可能在他们的心电图中出现自发性1型BrugadaECG模式（p=0.01），较长的PR间隔（p=.03），和SCN5A突变（p=0.01）比无症状患者。男性的平均PR间期明显长于女性(p=.034)。在50名患者中的9名（18％）中发现了SCN5A突变。15％的人接受了适当的植入式心脏复律除颤器（ICD）治疗，而17％的人观察到不适当的ICD干预措施。出现SCD或心律失常性晕厥是随访中不良结局的唯一预测因子（比值比：3.1，95％置信区间：0.7-19.6，p=.001）。
结论：有症状的BrS患者更有可能出现自发性1型Brugada心电图，较长的PR间隔，SCN5A基因致病突变。在有症状的患者和有SCN5A突变的患者中，适当的ICD干预更可能。
目的：在本研究中，我们的目标是评估演示文稿，长期结果，遗传发现,以及对BrS患者的治疗干预。
方法：在2001年9月至2022年6月之间，所有诊断为BrS的连续患者均纳入本研究。所有患者都对手术给予书面知情同意书，当地伦理委员会批准了这项研究。
结果：76例中，79％是先证者，21％是在家庭成员中诊断为BrS后的筛查中检测到的。33例（43％）患者具有典型的自发心电图（ECG）模式。30％的患者有症状；有症状的患者更可能在他们的心电图中出现自发性1型BrugadaECG模式（p=0.01），较长的PR间隔（p=.03），和SCN5A突变（p=0.01）比无症状患者。男性的平均PR间期明显长于女性(p=.034)。在50名患者中的9名（18％）中发现了SCN5A突变。15％的人接受了适当的植入式心脏复律除颤器（ICD）治疗，而17％的人观察到不适当的ICD干预措施。出现SCD或心律失常性晕厥是随访中不良结局的唯一预测因子（比值比：3.1，95％置信区间：0.7-19.6，p=.001）。
结论：有症状的BrS患者更有可能出现自发性1型Brugada心电图，较长的PR间隔，SCN5A基因致病突变。在有症状的患者和有SCN5A突变的患者中，适当的ICD干预更可能。
