Shimizu Wataru
Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka, 565-8565, Japan.
Cardiovasc Res. 2005 Aug 15;67(3):347-56. doi: 10.1016/j.cardiores.2005.03.020.
The congenital long QT syndrome (LQTS) is a hereditary disorder characterized by a prolonged QT interval and a polymorphic ventricular tachycardia, known as torsade de pointes (TdP), leading to severe cardiac events such as syncope and/or sudden cardiac death. Molecular genetic studies have revealed a total of eight forms of congenital LQTS caused by mutations in genes of the potassium, sodium and calcium channels or membrane adapter located on chromosomes 3, 4, 7, 11, 12, 17 and 21. Genotype-phenotype correlation in clinical and experimental studies has been investigated in detail in the LQT1, LQT2 and LQT3 syndromes which constitute more than 90% of genotyped patients with LQTS, enabling us to stratify risk and to effectively treat genotyped patients.
先天性长QT综合征（LQTS）是一种遗传性疾病，其特征为QT间期延长和多形性室性心动过速，即尖端扭转型室速（TdP），可导致严重心脏事件，如晕厥和/或心源性猝死。分子遗传学研究已揭示，共有8种先天性LQTS，由位于3号、4号、7号、11号、12号、17号和21号染色体上的钾、钠和钙通道或膜适配蛋白基因发生突变所致。临床和实验研究中对构成超过90%已分型LQTS患者的LQT1、LQT2和LQT3综合征的基因型-表型相关性进行了详细研究，这使我们能够对风险进行分层并有效治疗已分型患者。
