PDF(Pubmed)
Abstract：
Brugada syndrome (BrS) is an inherited arrhythmogenic disorder marked by distinctive ST-segment elevations on electrocardiograms (ECG) and an increased risk of sudden cardiac death. Characterized by mutations primarily in the SCN5A gene, BrS disrupts cardiac ion channel function, leading to abnormal electrical activity and arrhythmias. Although BrS primarily affects young, healthy males, it poses significant diagnostic challenges due to its often concealed or intermittent ECG manifestations and clinical presentation that can mimic other cardiac disorders. Current management strategies focus on symptom control and prevention of sudden death, with implantable cardioverter-defibrillators (ICD) serving as the primary intervention for high-risk patients. However, the complications associated with ICDs and the lack of effective pharmacological options necessitate a cautious and personalized approach. Recent advancements in catheter ablation have shown promise, particularly for managing ventricular fibrillation (VF) storms and reducing ICD shocks. Additionally, pharmacological treatments such as quinidine have been effective in specific cases, though their use is limited by availability and side effects. This review highlights significant gaps in the BrS literature, particularly in terms of long-term management and novel therapeutic approaches. The importance of genetic screening and tailored treatment strategies to better identify and manage at-risk individuals is emphasized. The review aims to enhance the understanding of BrS and improve patient outcomes, advocating for a multidisciplinary approach to this complex syndrome.
摘要：
Brugada综合征（BrS）是一种遗传性心律失常，其特征是心电图（ECG）上独特的ST段抬高和心源性猝死风险增加。以SCN5A基因突变为主要特征，BrS破坏心脏离子通道功能，导致异常电活动和心律失常。虽然BrS主要影响年轻人，健康的男性,由于其通常隐藏或间歇性的ECG表现以及可以模仿其他心脏疾病的临床表现，因此它提出了重大的诊断挑战。目前的管理策略侧重于症状控制和预防猝死，植入式心律转复除颤器（ICD）作为高危患者的主要干预措施。然而,与ICD相关的并发症以及缺乏有效的药物选择,需要谨慎和个性化的治疗方法.导管消融的最新进展显示出了希望，特别是用于管理心室纤颤（VF）风暴和减少ICD电击。此外,药物治疗如奎尼丁在特定情况下是有效的，尽管它们的使用受到可用性和副作用的限制。这篇综述强调了BrS文献中的重大差距，特别是在长期管理和新的治疗方法方面。强调了遗传筛查和量身定制的治疗策略对更好地识别和管理高危个体的重要性。该综述旨在增强对BrS的理解并改善患者的预后，提倡对这种复杂的综合症采取多学科的方法。
