Gomez Andrew T, Prutkin Jordan M, Rao Ashwin L
Family Medicine Residency, University of Washington, Seattle, Washington.
Center for Sports Cardiology, Division of Cardiology/Electrophysiology, Department of Medicine, University of Washington, Seattle, Washington.
Sports Health. 2016 Nov/Dec;8(6):527-535. doi: 10.1177/1941738116660294. Epub 2016 Aug 6.
The congenital long QT syndrome (LQTS) is an inherited channelopathy known for its electrocardiographic manifestations of QT prolongation and its hallmark arrhythmia, torsades de pointes (TdP). TdP can lead to syncope or sudden death and is often precipitated by triggers such as physical exertion or emotional stress. Given that athletes may be at particular risk for adverse outcomes, those suspected of having LQTS should be evaluated, risk stratified, treated, and receive appropriate counseling by providers with sufficient expertise according to the latest guidelines.
The following keywords were used to query MEDLINE and PubMed through 2016: LQTS, LQT1, LQT2, LQT3, long QT, long QTc, prolonged QT, prolonged QTc, QT interval, QTc interval, channelopathy, channelopathies, athletes, torsades de pointes, and sudden cardiac death. Selected articles within this primary search, in addition to relevant references from those articles, were reviewed for relevant information and data. Articles with pertinent information regarding pathophysiology, evaluation, diagnosis, genetic testing, treatment, and guidelines for athletes were included, particularly those published in the prior 2 decades.
Clinical review.
Level 3.
Diagnosis of LQTS involves eliciting the patient's family history, clinical history, and evaluation of electrocardiographic findings. Genetic testing for common mutations can confirm suspected cases. β-Blockers represent the mainstay of treatment, though interventions such as implantable cardioverter-defibrillator placement or left cardiac sympathetic denervation may be required. Properly evaluated and treated athletes with LQTS have a low risk of cardiac events.
Detection and management of LQTS in the athletic population is crucial given the possibility of adverse outcomes with the stress of athletic participation. Preparticipation screening examinations should include a thorough clinical and family history. Screening electrocardiograms may display key findings consistent with LQTS while genetic testing can confirm the diagnosis. Formerly considered a strict contraindication to athletic participation, LQTS is now an increasingly manageable entity with proper evaluation and treatment by qualified and experienced providers.
先天性长QT综合征（LQTS）是一种遗传性离子通道病，以心电图QT间期延长及其特征性心律失常——尖端扭转型室速（TdP）为特征。TdP可导致晕厥或猝死，常由体力活动或情绪应激等诱因诱发。鉴于运动员可能尤其面临不良后果的风险，疑似患有LQTS的运动员应按照最新指南，由具备足够专业知识的医疗服务提供者进行评估、风险分层、治疗并接受适当的咨询。
通过以下关键词检索截至2016年的MEDLINE和PubMed数据库：LQTS、LQT1、LQT2、LQT3、长QT、长QTc、QT间期延长、QTc间期延长、QT间期、QTc间期、离子通道病、离子通道病、运动员、尖端扭转型室速、心源性猝死。对本次初步检索中选定的文章以及这些文章的相关参考文献进行审查，以获取相关信息和数据。纳入有关病理生理学、评估、诊断、基因检测、治疗以及运动员指南的相关信息的文章，尤其是过去20年发表的文章。
临床综述。
3级。
LQTS的诊断包括询问患者家族史、临床病史以及评估心电图表现。常见突变的基因检测可确诊疑似病例。β受体阻滞剂是主要治疗方法，不过可能需要进行诸如植入式心脏复律除颤器植入或左心交感神经去神经术等干预措施。经过适当评估和治疗的LQTS运动员发生心脏事件的风险较低。
鉴于运动参与带来的压力可能导致不良后果，在运动员群体中检测和管理LQTS至关重要。赛前筛查检查应包括全面的临床和家族史询问。筛查心电图可能显示与LQTS一致的关键表现，而基因检测可确诊。LQTS以前被视为运动参与的严格禁忌证，现在通过合格且经验丰富的医疗服务提供者进行适当评估和治疗后，它已成为一个越来越易于管理的疾病。
