Schulze-Bahr Eric
Medizinische Klinik und Poliklinik C (Kardiologie und Angiologie), Universitätsklinikum Münster (UKM), Münster.
Herz. 2006 Apr;31(2):118-22; quiz 142-3. doi: 10.1007/s00059-006-2795-9.
The inherited short QT syndrome (SQTS) is a novel, genetically determined arrhythmia that resembles the pathophysiological counterpart of congenital long QT syndrome (LQTS). Gain-of-function ion channel mutations in cardiac potassium channel genes are the currently known cause of SQTS and obvious genetic heterogeneity is evident from the few reported families. At present, three subforms are known, and probably, specific T-wave patterns make each subform recognizable. So far, only a few cases have been genetically unraveled. Treatment includes ICD implantation as the first-line option due to a high occurrence rate of ventricular fibrillation and repolarization-prolonging medications such as quinidine are under investigation. Whenever atrial and/or ventricular fibrillation occur in an idiopathic setting, SQTS has to be considered a potential cause.
遗传性短QT综合征（SQTS）是一种新型的、由基因决定的心律失常，类似于先天性长QT综合征（LQTS）的病理生理学对应物。心脏钾通道基因的功能获得性离子通道突变是目前已知的SQTS病因，从少数已报道的家系中可明显看出明显的遗传异质性。目前已知有三种亚型，可能特定的T波形态使每种亚型都可识别。到目前为止，仅有少数病例的遗传机制已被阐明。由于室颤发生率高，治疗包括将植入式心律转复除颤器（ICD）植入作为一线选择，而延长复极的药物如奎尼丁正在研究中。每当在特发性情况下发生心房和/或心室颤动时，都必须考虑SQTS是潜在病因。
