Department of Cardiology, Royal Melbourne Hospital, Victoria 3050, Australia.
Heart Lung Circ. 2011 Dec;20(12):751-6. doi: 10.1016/j.hlc.2011.07.014. Epub 2011 Sep 22.
Brugada Syndrome (BS) is a cardiac ion channel disorder linked to loss of function mutation in the SCN5A gene which affects the sodium current. The diagnosis is made on the ECG showing characteristic cove-shaped ST elevation in leads V(1) to V(3) in the absence of structural heart disease, electrolyte disturbance or ischaemia. This condition is genetically transmitted as an autosomal dominant syndrome with incomplete penetrance. It is responsible for 20% of all sudden deaths in those without structural heart disease. Diagnosis of BS can be difficult as the ECG changes are dynamic and variable. Genetic mutation in SCN5A gene is found in 25-30% of patients with Brugada Syndrome. Patients may present with syncope due to polymorphic VT or resuscitated sudden death in the third or fourth decade of life. Symptoms frequently occur at night or at rest and fever is a common trigger in children. Patients presenting with syncope or resuscitated sudden cardiac death should have an implantable defibrillator. Management of asymptomatic patients is controversial and risk stratification is required. www.brugadadrugs.org gives a list of drugs that should be avoided by patients suffering from BS.
Brugada 综合征（BS）是一种与 SCN5A 基因突变导致钠电流功能丧失相关的心脏离子通道疾病。诊断依据为心电图（ECG）显示无结构性心脏病、电解质紊乱或缺血情况下，V(1)至 V(3)导联特征性穹窿形 ST 段抬高。该病症呈常染色体显性遗传，不完全外显，遗传突变发生率为 25-30%。在无结构性心脏病的患者中，其占所有猝死的 20%。由于 ECG 变化具有动态性和可变性，BS 的诊断可能较为困难。BS 患者可能因多形性室速（VT）而出现晕厥，或在生命的第三或第四个十年因复苏性心源性猝死（sudden cardiac death，SCD）而猝然离世。症状常发生在夜间或休息时，发热是儿童的常见诱因。出现晕厥或复苏性 SCD 的患者应植入埋藏式复律除颤器（implantable defibrillator）。无症状患者的处理方法存在争议，需要进行风险分层。www.brugadadrugs.org 列出了 Brugada 综合征患者应避免使用的药物。
