Borchert B, Lawrenz T, Stellbrink C
Städtisches Klinikum Bielefeld Mitte, Abteilung für Kardiologie und internistische Intensivmedizin, Teutoburger Strasse 50, 33604 Bielefeld, Germany.
Herzschrittmacherther Elektrophysiol. 2006 Dec;17(4):205-10. doi: 10.1007/s00399-006-0534-9.
In the past decade molecular genetic analysis has greatly expanded our knowledge about inherited arrhythmogenic syndromes. The congenital long QT syndrome (LQTS) and the recently described short QT syndrome (SQTS), with the defining characteristic of abnormal prolongation or shortening of the QTc interval on the surface electrocardiogram, are caused by cardiac ion channel dysfunctions. These "channelopathies" show a high degree of genetic heterogeneity of the molecular pathways in terms of the relationships between genetic defects and phenotypic expression. In this brief review we summarize the current understanding of the molecular basis of long and short QT syndrome with focus on the impact of molecular genetics on the clinical management of these diseases.
在过去十年中，分子遗传学分析极大地扩展了我们对遗传性心律失常综合征的认识。先天性长QT综合征（LQTS）和最近描述的短QT综合征（SQTS），其特征为体表心电图上QTc间期异常延长或缩短，是由心脏离子通道功能障碍引起的。就遗传缺陷与表型表达之间的关系而言，这些“通道病”在分子途径方面表现出高度的遗传异质性。在这篇简短的综述中，我们总结了目前对长QT综合征和短QT综合征分子基础的理解，重点关注分子遗传学对这些疾病临床管理的影响。
