Rossenbacker Tom, Priori Silvia G
Molecular Cardiology, IRCCS Fondazione Maugeri, Pavia, Italy.
Curr Opin Cardiol. 2007 May;22(3):163-70. doi: 10.1097/HCO.0b013e328112f345.
The Brugada syndrome has been an area of intensive investigation since its earliest description in 1992, both on a clinical and on a basic research level. In this review, we will focus on recent achievements in the molecular dissection of the disease pathophysiology and on large multicenter studies dealing with prognostic markers and the natural history of the Brugada syndrome.
In the past year, two additional genetic pathways have been associated with the disease. Also, an inflammatory or infectious etiology has recently been linked with the Brugada syndrome. The debate on the predictive role of programmed electrical stimulation is still ongoing. Very recently, large follow-up studies questioned the prognostic role of programmed electrical stimulation in this disease.
Knowledge on the genetic determinants of the Brugada syndrome remains limited. Therefore, the management and the risk stratification of patients should be performed on a clinical basis. Sufficient evidence exists to reassure clinicians who feel reluctant to include programmed electrical stimulation in the risk stratification strategy of asymptomatic Brugada syndrome patients.
自1992年首次描述以来, Brugada综合征一直是临床和基础研究的重点领域。在本综述中,我们将重点关注该疾病病理生理学分子剖析方面的最新进展,以及关于Brugada综合征预后标志物和自然史的大型多中心研究。
在过去一年中,又有两条遗传途径与该疾病相关。此外,炎症或感染病因最近也与Brugada综合征有关。关于程序电刺激预测作用的争论仍在继续。最近,大型随访研究对程序电刺激在该疾病中的预后作用提出了质疑。
关于Brugada综合征遗传决定因素的知识仍然有限。因此,患者的管理和风险分层应基于临床进行。有足够的证据让那些不愿将程序电刺激纳入无症状Brugada综合征患者风险分层策略的临床医生放心。