Markiewicz-Łoskot Grazyna, Moric-Janiszewska Ewa, Mazurek Urszula
Department of Pediatric Cardiology, Medical University of Silesia, Katowice, Poland.
Ann Noninvasive Electrocardiol. 2009 Jan;14(1):86-92. doi: 10.1111/j.1542-474X.2008.00278.x.
This review discusses the risk of cardiac events and genotype-based management of LQTS. We describe here the genetic background of long QT syndrome and the eleven different genes for ion-channels and a structural anchoring protein associated with that disorder. Clinical Background section discusses the risk of cardiac events associated with different LQTS types. Management and Prevention section describes in turn gene-specific therapy, which was based on the identification of the gene defect and the dysfunction of the associated transmembrane ion channel. In patients affected by LQTS, genetic analysis is useful for risk stratification and for making therapeutic decisions. A recent study reported a quite novel pathogenic mechanism for LQTS and suggested that treatments aimed at scaffolding proteins rather than specific ion channels may be an alternative to antiarrhythmic strategy in the future.
本综述讨论了长QT综合征（LQTS）的心脏事件风险及基于基因型的管理。我们在此描述长QT综合征的遗传背景以及与该疾病相关的11种不同的离子通道基因和一种结构锚定蛋白。临床背景部分讨论了不同类型LQTS相关的心脏事件风险。管理与预防部分依次描述了基于基因缺陷识别和相关跨膜离子通道功能障碍的基因特异性治疗。在LQTS患者中，基因分析对于风险分层和制定治疗决策很有用。最近一项研究报道了LQTS一种相当新颖的致病机制，并表明针对支架蛋白而非特定离子通道的治疗可能在未来成为抗心律失常策略的替代方案。
