Long-Term Follow-Up of Patients With Short QT Syndrome
Long-Term Follow-Up of Patients With Short QT Syndrome
复制标题
DOI：
10.1016/j.jacc.2011.03.038
复制
发表时间：
2011-08-02
影响因子：
24
通讯作者：
Gaita, Fiorenzo
中科院分区：
文献类型：
--
作者：
Giustetto, Carla;Schimpf, Rainer;Gaita, Fiorenzo
目的本研究的目的是探讨短QT综合征（SQTS）患者的临床特征和长期病程。背景：SQTS是一种罕见的以猝死风险增加为特征的通道病。SQTS患者的长期预后尚无数据。方法对来自欧洲短QT注册中心的53例患者（75%为男性，中位年龄26岁）进行64 +/- 27个月的随访。结果89%的患者有家族或个人心脏骤停史。32%的患者临床表现为猝死。平均QTc为314±23 ms。在23%的先证者中发现与SQTS相关的基因突变；大多数人的HERG （SQTS1）功能突变增加。24例患者采用植入式心律转复除颤器，12例患者长期应用氢奎尼丁（HQ）预防室性心律失常的发生。HERG突变患者在基线时的QTc较短，在接受HQ治疗后的QTc延长时间更长。随访期间，2例已出现症状的患者接受了适当的植入式心律转复除颤器电击，1例出现晕厥。3例患者出现非持续性多形性室性心动过速。在未接受抗心律失常治疗的患者中，事件发生率为每年4.9%。接受HQ治疗的患者未发生心律失常事件。结论SQTS在所有年龄组中都有较高的猝死风险。有症状的患者反复发生心律失常事件的风险很高。在长期随访中，HQ可有效预防室性心动过速诱导和心律失常事件。[J]中华医学会心脏科杂志，2011;58 (5):587- 595
Objectives 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).Background 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.Methods Fifty-three patients from the European Short QT Registry (75% males; median age: 26 years) were followed up for 64 +/- 27 months.Results 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.Conclusions 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. (J Am Coll Cardiol 2011;58:587-95) (C) 2011 by the American College of Cardiology Foundation