Division of Cardiology, University of Turin, San Giovanni Battista Hospital, Turin, Italy.
J Am Coll Cardiol. 2011 Aug 2;58(6):587-95. doi: 10.1016/j.jacc.2011.03.038.
The aim of this study was to investigate the clinical characteristics and the long-term course of a large cohort of patients with short QT syndrome (SQTS).
SQTS is a rare channelopathy characterized by an increased risk of sudden death. Data on the long-term outcome of SQTS patients are not available.
Fifty-three patients from the European Short QT Registry (75% males; median age: 26 years) were followed up for 64 ± 27 months.
A familial or personal history of cardiac arrest was present in 89%. Sudden death was the clinical presentation in 32%. The average QTc was 314 ± 23 ms. A mutation in genes related to SQTS was found in 23% of the probands; most of them had a gain of function mutation in HERG (SQTS1). Twenty-four patients received an implantable cardioverter defibrillator, and 12 patients received long-term prophylaxis with hydroquinidine (HQ), which was effective in preventing the induction of ventricular arrhythmias. Patients with a HERG mutation had shorter QTc at baseline and a greater QTc prolongation after treatment with HQ. During follow-up, 2 already symptomatic patients received appropriate implantable cardioverter defibrillator shocks and 1 had syncope. Nonsustained polymorphic ventricular tachycardia was recorded in 3 patients. The event rate was 4.9% per year in the patients without antiarrhythmic therapy. No arrhythmic events occurred in patients receiving HQ.
SQTS carries a high risk of sudden death in all age groups. Symptomatic patients have a high risk of recurrent arrhythmic events. HQ is effective in preventing ventricular tachyarrhythmia induction and arrhythmic events during long-term follow-up.
本研究旨在调查短 QT 综合征（SQTS）患者的临床特征和长期病程。
SQTS 是一种罕见的通道病，其特征是猝死风险增加。关于 SQTS 患者的长期预后数据尚不可用。
来自欧洲短 QT 注册处的 53 名患者（75%为男性；中位年龄：26 岁）随访 64±27 个月。
89%的患者有家族或个人心脏骤停史。32%的患者以心脏骤停为临床表现。平均 QTc 为 314±23ms。23%的先证者发现与 SQTS 相关的基因突变；其中大多数为 HERG（SQTS1）获得性功能突变。24 名患者接受了植入式心脏复律除颤器，12 名患者接受了长期氢醌（HQ）预防治疗，HQ 有效预防了室性心律失常的诱发。HERG 基因突变的患者基线 QTc 更短，HQ 治疗后 QTc 延长更大。随访期间，2 名已有症状的患者接受了适当的植入式心脏复律除颤器电击治疗，1 名患者出现晕厥。3 名患者记录到非持续多形性室性心动过速。无抗心律失常治疗的患者年事件发生率为 4.9%。接受 HQ 治疗的患者未发生心律失常事件。
SQTS 在所有年龄段均有发生猝死的高风险。有症状的患者有发生复发性心律失常事件的高风险。HQ 可有效预防长期随访期间室性心动过速的诱发和心律失常事件。
