Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome - A prospective evaluation of 52 families
Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome - A prospective evaluation of 52 families
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DOI：
10.1161/01.cir.102.20.2509
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发表时间：
2000-11-14
期刊：
影响因子：
37.8
通讯作者：
Schwartz, PJ
中科院分区：
文献类型：
--
作者：
Priori, SG;Napolitano, C;Schwartz, PJ
背景-心电图右束支分支传导阻滞和V-1至V-3导联ST段抬高（Brugada综合征）与心脏正常患者猝死的高风险相关。目前的管理和预后是基于一项单一的研究，表明3年内有症状和无症状患者的死亡风险很高，因此，积极的管理（植入式心律转复除颤器）推荐两组，方法和结果-60例患者（45名40+/-15岁的男性）进行了临床评价，对在识别综合征之前至少有一次流产猝死或不明原因晕厥发作的患者进行随访时的事件分析（30例症状性患者）和既往无事件史的患者（30例无症状性患者）。心脏钠离子通道突变的患病率为15%，表明遗传异质性。在平均33+/-38个月的随访期间，30例有症状患者中有5例（16%）发生室颤，30例无症状患者中无一例发生室颤。程控电刺激在识别风险患者方面的价值有限（阳性预测值50%，阴性预测值46%）。钠通道阻滞剂的药理学挑战是无法揭露最沉默的基因载体（阳性预测值35%）。结论，在与目前的观点不同，无症状的患者猝死的风险较低，编程电刺激识别只有一小部分的个人风险，钠通道阻滞剂未能揭露最沉默的基因载体，这种新的证据要求重新评估的治疗管理。
Background-The ECG pattern of right bundle branch block and ST-segment elevation in leads V-1 to V-3 (Brugada syndrome) is associated with high risk of sudden death in patients with a normal heart. Current management and prognosis are based on a single study suggesting a high mortality risk within 3 years for symptomatic and asymptomatic patients alike, As a consequence, aggressive management (implantable cardioverter defibrillator) is recommended for both groups,Methods and Results-Sixty patients (45 males aged 40+/-15 years) with the typical ECG pattern were clinically evaluated, Events at follow-up were analyzed for patients with at least one episode of aborted sudden death or syncope of unknown origin before recognition of the syndrome (30 symptomatic patients) and for patients without previous history of events (30 asymptomatic patients). Prevalence of mutations of the cardiac sodium channel was 15%, demonstrating genetic heterogeneity. During a mean follow-up of 33+/-38 months, ventricular fibrillation occurred in 5 (16%) of 30 symptomatic patients and in none of the 30 asymptomatic patients, Programmed electrical stimulation was of limited value in identifying patients at risk (positive predictive value 50%, negative predictive value 46%). Pharmacological challenge with sodium channel blockers was unable to unmask most silent gene carriers (positive predictive value 35%).Conclusions-At variance with current views, asymptomatic patients are at lower risk for sudden death, Programmed electrical stimulation identifies only a fraction of individuals at risk, and sodium channel blockade fails to unmask most silent gene carriers, This novel evidence mandates a reappraisal of therapeutic management.