Maury Philippe, Extramiana Fabrice, Sbragia Pascal, Giustetto Carla, Schimpf Rainer, Duparc Alexandre, Wolpert Christian, Denjoy Isabelle, Delay Marc, Borggrefe Martin, Gaita Fiorenzo
Fédération de cardiologie, hôpital universitaire Rangueil, 31059 Toulouse cedex 09, France.
Arch Cardiovasc Dis. 2008 Nov-Dec;101(11-12):779-86. doi: 10.1016/j.acvd.2008.08.009. Epub 2008 Nov 18.
The short QT syndrome, a recently discovered ion channel disorder, combines shortened repolarization, a predisposition to atrial and ventricular fibrillatory arrhythmias, and a risk of sudden death. Few cases have been reported, but the prevalence may be underestimated. This syndrome might account for some cases of unexplained ventricular fibrillation in patients with otherwise healthy hearts. Patients have abnormally short QT intervals and refractory periods, and atrial/ventricular fibrillation can be triggered during investigations. Gain-of-function mutations have been detected in three genes encoding potassium channels. Treatment is based on defibrillator implantation, sometimes as a preventive measure. Quinidine may be beneficial in certain cases.
短QT综合征是一种最近发现的离子通道疾病，其特征为复极缩短、易发生房性和室性颤动性心律失常以及猝死风险。报道的病例较少，但患病率可能被低估。该综合征可能是一些心脏看似健康的患者发生不明原因室颤的病因。患者的QT间期和不应期异常缩短，在检查过程中可诱发房性/室性颤动。在编码钾通道的三个基因中检测到功能获得性突变。治疗基于植入除颤器，有时作为预防措施。奎尼丁在某些情况下可能有益。
