Steinberg Christian
Quebec Heart and Lung Center, Laval University, 2725, chemin Sainte-Foy, Quebec, QC G1V 4G5, Canada.
Curr Opin Cardiol. 2018 Jan;33(1):31-41. doi: 10.1097/HCO.0000000000000465.
To give an overview over the substantial advances in the diagnosis and management of Long-QT syndrome since its first description 60 years ago.
LQT syndrome remains the most common inherited arrhythmia and is a leading cause for sudden unexplained death accounting for up to 20-25% of cases. Rapid progress of genetic technology over the past 2 decades has significantly improved our understanding of molecular and genetic mechanisms of LQT. Despite all those novel insights, phenotype assessment and appropriate risk stratification in LQT remains challenging - even for the expert.
This review outlines our current understanding and approach to the clinical diagnosis and management of LQT as well as recent insights into genotype-phenotype correlations. Genetic testing has evolved beyond a pure diagnostic tool and is in addition increasingly integrated as complementary prognostic marker. With regard to the management of LQT, there is now evidence that the protective effect of beta-blockers is rather substance-specific than a class effect. Novel approaches - in conjunction with standard beta-blockers - are emerging including gene-specific treatment for certain subtypes of LQT. A specialized inherited arrhythmia clinic is the preferred resource for the complex risk stratification and individualized management of individuals with LQT.
概述自60年前首次描述长QT综合征以来，其诊断和管理方面取得的重大进展。
长QT综合征仍然是最常见的遗传性心律失常，是不明原因猝死的主要原因，占病例的20% - 25%。过去20年里基因技术的快速发展显著增进了我们对长QT综合征分子和遗传机制的理解。尽管有这些新见解，但长QT综合征的表型评估和适当的风险分层仍然具有挑战性——即使对于专家来说也是如此。
本综述概述了我们目前对长QT综合征临床诊断和管理的理解及方法，以及对基因型 - 表型相关性的最新见解。基因检测已不再仅仅是一种单纯的诊断工具，还越来越多地作为补充性预后标志物被整合进来。关于长QT综合征的管理，现在有证据表明β受体阻滞剂的保护作用更多地是药物特异性的，而非类别效应。包括针对某些长QT综合征亚型的基因特异性治疗在内的新方法正在与标准β受体阻滞剂联合出现。专门的遗传性心律失常诊所是对长QT综合征患者进行复杂风险分层和个体化管理的首选资源。
