Wilde A A, van Langen I M
Afd. Klinische en Experimentele Cardiologie, Academisch Medisch Centrum/Universiteit van Amsterdam.
Ned Tijdschr Geneeskd. 2000 Nov 11;144(46):2205-7.
The long QT syndrome is characterised by QT prolongation on the ECG, repeated syncope and sudden cardiac death. QT prolongation is the result of delayed repolarisation at the cellular level, secondary to dysfunctioning ion channels. Ventricular arrhythmias underlie syncope and death. At least six genes, all encoding (parts of) ion channels, are causally involved. A molecular diagnosis is often feasible and can be reached reasonably straightforwardly, based on the clinical (family) history and the ECG pattern.
长QT综合征的特征是心电图上QT间期延长、反复晕厥和心源性猝死。QT间期延长是细胞水平复极化延迟的结果，继发于离子通道功能障碍。室性心律失常是晕厥和死亡的基础。至少有六个基因，均编码（部分）离子通道，与该病病因有关。基于临床（家族）病史和心电图模式，分子诊断通常是可行的，且能相对直接地得出结论。
