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The Brugada Syndrome -From Gene to Therapy-

机译：Brugada综合征 - 从基因到治疗 -

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It is almost a quarter of century that a pioneering work of 2 researchers named Brugada brought the entire scientific community to understanding the molecular, clinical, and electrophysiological aspects of a distinctive syndrome. It affects mainly young adults with syncope and/ or sudden cardiac death caused by polymorphic ventricular tachycardia or ventricular fibrillation in the absence of any sign of cardiac degeneration or alteration. Although the involvement of the epicardial layer of the right ventricular outflow tract, and the requirement of pharmacologic challenge for unveiling concealed forms, have been fully characterized, many areas of uncertainties remain to be elucidated, such as the unpredictable usefulness of programmed ventricular stimulation, the role of radiofrequency catheter ablation for reducing ST- segment elevation, and the value of risk stratification in patients diagnosed with upper displacement of right precordial leads. How much Brugada syndrome is an intense field of research is witnessed by 4 different consensus committees that took place in a relatively short period of time considering the recent discovery of this intricate arrhythmogenic disease. The main focus of this review is to describe the milestones in Brugada syndrome from its first phenotypic and genotypic appraisals to recent achievements in electrical therapies proposed for the management of this fascinating rhythm disturbance that, despite new diagnostic and therapeutic learnings, still predisposes to sudden cardiac death.
机译：它几乎是四分之一的世纪，名为Brugada的2名研究人员的开创性工作带来了整个科学界，了解了独特综合征的分子，临床和电生理学方面。它主要影响年轻成年人，其具有晕厥和/或突然的心脏死亡，在没有任何心脏退化或改变的迹象的情况下由多晶型心室心动过速或心室颤动引起的。虽然表皮层的右心室流出道的参与以及用于揭示隐藏形式的药理挑战的要求已经完全表征，但仍有许多不确定性的领域仍然被阐明，例如编程心室刺激的不可预测的有用性，射频导管消融对减少ST分段升高的作用，以及右前置术患者患者风险分层的价值。 Brugada综合征是一个激烈的研究领域，目睹了4个不同的共识委员会，在相对较短的时间内考虑到最近发现这种复杂的心律失常疾病。本综述的主要焦点是将巴鲁达综合征的里程碑从其第一个表型和基因型评估描述了近期用于管理这种迷人的节奏障碍的电气治疗成果，尽管新的诊断和治疗学习，但仍然突然心动死亡。

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