以晕厥为首发表现的先天性长QT综合征儿童的临床特征及随访  

Clinical features and follow-up of congenital long QT syndrome in children with syncope as the first presentation

作　　者：邵魏 高路 袁越 田芝瑜 徐泊雯 Shao Wei;Gao Lu;Yuan Yue;Tian Zhiyu;Xu Bowen(Department of Cardiology,Heart Center,Beijing Children′s Hospital,Capital Medical University,National Children′s Medical Center,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院心脏中心内科,100045

出　　处：《中国小儿急救医学》2023年第12期919-923,共5页Chinese Pediatric Emergency Medicine

摘　　要：目的探讨儿童先天性长QT综合征(LQTS)的致病基因、临床特征及治疗随访情况。方法收集2016年8月至2023年3月于首都医科大学附属北京儿童医院心脏内科收治的16例以晕厥为首发表现的先天性LQTS患儿的临床资料、基因检测结果及随访资料,并进行回顾性分析。结果16例LQTS患儿,首次晕厥发病年龄为1.3~13.3(7.37±3.41)岁,首次晕厥到临床确诊时间间隔0~48(14.8±16.2)个月。13例(81.3%)患儿有明确的晕厥诱因,其中9例为运动诱发,4例为情绪激动诱发。13例LQTS患儿完成基因检测,其中12例(92.3%)患儿发现了来自于KCNQ1、KCNH2、SCN5A基因的致病或疑似致病突变。16例患儿矫正QT间期(550.0±50.2)ms,均大于460 ms。Schwartz评分为6.0(5.0,6.0)分,均≥4分。全部)患儿初始应用美托洛尔或普萘洛尔治疗,其中14例随访至2023年9月,3例患儿晕厥再发作,5例患儿自行停药。1例大剂量美托洛尔治疗患儿(LQT2型)反复晕厥发作后换用美西律治疗有效。1例患儿不耐受大剂量普萘洛尔行左侧心脏交感神经切除术,术后无晕厥发作。全部患儿均未植入植入型心律转复除颤器。结论伴晕厥症状的儿童LQTS患儿基因检测存在很高的阳性率。基因检测结果可协助对LQTS患儿的进一步分型并指导治疗。在晕厥儿童中进行常规的心电图筛查有可能更早诊断LQTS,减少误诊、漏诊。β-受体阻滞剂是LQTS患儿治疗的基石。加强随访管理并提高患儿的治疗依从性有利于进一步提高患儿的治疗应答率。Objective To investigate the pathogenic genes,clinical features and treatment as well as follow-up of children with congenital long QT syndrome(LQTS).Methods The clinical data,genetic test results and follow-up data of 16 congenital LQTS children with syncope as the first manifestation admitted to the Department of Cardiology,Beijing Children′s Hospital Affiliated to Capital Medical University from August 2016 to March 2023 were collected and retrospectively analyzed.Results Among the 16 LQTS patients,the age of first syncope onset was 1.3-13.3(7.37±3.41)years,and the interval between first syncope onset and clinical diagnosis was 0-48(14.8±16.2)months.A total of 13(81.3%)patients had triggers of syncope,of which nine were exercise-induced and four were emotional induced.Genetic testing was performed in 13 patients with LQTS,of which 12(92.3%)were found to have pathogenic or suspected pathogenic mutations from KCNQ1,KCNH2,and SCN5A gene.The corrected QT interval of 16 patients was(550.0±50.2)ms,all cases≥460 ms.Schwartz scored 6.0(5.0,6.0)points,all cases≥4 points.All patients were initially treated with metoprolol or propranolol,of which 14 patients were followed up to date,three patients had recurrent syncope,and five patients stopped taking the medicines by themselves.One patient with high-dose metoprolol(LQT2)was treated with mexiletine after recurrent episodes.One patient who was intolerant to high-dose propranolol underwent left cardiac sympathectomy and was followed up after surgery without syncope episodes.None of the patients underwent implantable cardioverter defibrillator implantation.Conclusion Children with LQTS and syncope symptoms have high positive rate of genetic tests.The genetic results could assist typing of patients with LQTS and guide treatment.Routine electrocardiogram screening in children with syncope may diagnose LQTS earlier and reduce misdiagnosis and missed diagnosis.β-blockers are the cornerstone of treatment for patients with LQTS.Strengthening follow-up management and imp

关 键 词：儿童 先天性长QT综合征 心源性晕厥 临床特征 致病基因 

分 类 号：R725[医药卫生—儿科]