Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, NY.
Trends Cardiovasc Med. 2018 May;28(4):284-292. doi: 10.1016/j.tcm.2017.11.003. Epub 2017 Nov 27.
The Brugada syndrome is an inherited channelopathy associated with increased risk of ventricular arrhythmias and sudden death, often occurring during sleep or resting conditions. Although this entity has been described more than 20 years ago, it remains one of the most debated among channelopathies, with several open questions on its genetic substrate, arrhythmia mechanisms, and clinical management. Studies on the genetics and physiopathology bases of the Brugada syndrome have opened novel investigative pathways and concepts that are now entering the field of cardiovascular genetics and are applied to other inherited arrhythmias. In this perspective, Brugada syndrome can be seen as an example on how basic science discoveries have influenced clinical management and led to novel therapeutic approaches.
Brugada 综合征是一种遗传性离子通道病,与室性心律失常和猝死风险增加相关,常发生于睡眠或休息状态时。尽管该疾病于 20 多年前就已被描述,但它仍然是离子通道病中最具争议的疾病之一,其遗传基础、心律失常机制和临床管理方面仍存在许多悬而未决的问题。对 Brugada 综合征的遗传学和病理生理学基础的研究开辟了新的研究途径和概念,这些途径和概念现已进入心血管遗传学领域,并应用于其他遗传性心律失常。从这个角度来看,Brugada 综合征可以被视为基础科学发现如何影响临床管理并导致新的治疗方法的一个范例。