儿童先天性长QT综合征15型1例报告并文献复习

Children congenital long QT syndrome type 15:one case report and literature review

目的分析儿童先天性长QT综合征15型的临床特征。方法回顾性分析北京大学第一医院儿科确诊的1例及文献报道6例,共7例先天性长QT综合征15型(congenital long QT syndrome type 15,c LQTS15)患儿的临床表现、实验室检查、治疗及预后。结果 7例患儿中,男4例,女3例,发病年龄主要为学龄前,其中以晕厥起病5例,1例同时伴有惊厥和头晕,以肝肾功能衰竭起病1例,1例患儿无明显的起病表现。ECG检查显示,校正QT间期(QTc)延长者6例,QTc正常者1例,窦性心动过缓4例,非典型T波1例;外周血基因检查显示均存在CALM2基因突变。所有患儿均无家族相关遗传病史。7例患儿均采用β受体阻断剂,其中2例单独给予β受体阻断剂,其余5例中2例联合植入式复律除颤器(implantable cardioverter defibrillator,ICD)治疗,1例联合盐酸美西律,2例联合ICD及盐酸美西律治疗。治疗后的ECG QTc复查,其中4例患儿有ECG QTc记录,2例ECG QTc恢复正常,2例较前无明显变化。7例患儿中,5例无晕厥再发作,2例在长达15年及29年的随访中有1次晕厥发作,所有患儿病情均缓解,整体预后好。结论c LQTS15相对少见,多以晕厥起病,大部分患儿同时伴有窦性心动过缓,临床应用β受体阻断剂多有效,部分患儿需要联合ICD治疗,早期诊断及积极治疗能明显提高患儿的生活质量及生存率。

Objective To analyze the clinical characteristics of congenital long QT syndrome type 15（cLQTS15）.Methods The clinical manifestation, laboratory examinations, diagnosis, treatment and prognosis of 7 children patientswith cLQTS15 were retrospectively analyzed, including 1 case from Peking University First Hospital and 6 reported in litera-ture. Results Among 7 children with cLQTS15, 4 were males and 3 were females. The age of onset was mainly preschool,and 5 cases had syncope onset, in which 1 case was accompanied by seizures and dizziness. One case had renal and hepaticfailure. The other one had no obvious clinical manifestations. Electrocardiogram showed that QTc was prolonged in 6 cases,normal QTc in 1 case, sinus bradycardia in 4 cases, atypical T wave change in 1 case and peripheral blood gene tests showedthat there were CALM2 gene mutations. All children had no family-related genetic history. All children were treated with β-blockers, of which 2 were given β-blockers alone. In the other 5 patients, 2 patients were treated with implantable cardiovert-er defibrillator（ICD）, 2 patients were treated with ICD and mexiletine, and only one was combined with mexiletine. Aftertreatment and reexamination 4 cases had QTc record on the surface electrocardiogram, 2 cases had QTc returned to normal,another 2 had no obvious changes in QTc. Of the 7 children, 5 cases had no syncope again, 2 cases had one syncope during along period of follow-up. All of the children＇s condition were relieved and the overall prognosis was good. Conclusion cLQTS15 disease is relatively rare. The majority of patients with syncope onset has bradycardia and long-term use of β-blockers is responsive, but some of them require the combination of ICD and drug therapy. Early diagnosis and active treat-ment are of great importance to improve the quality of life and survival rate of the patients.