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中华妇幼临床医学杂志(电子版) ›› 2024, Vol. 20 ›› Issue (06) : 692 -699. doi: 10.3877/cma.j.issn.1673-5250.2024.06.014

论著

儿童病态窦房结综合征1例并文献复习
高健翔1,2, 曲政海2, 郭兴青2, 王芳2, 郑佳3, 毛成刚2,()   
  1. 1. 青岛大学青岛医学院,青岛 266071
    2. 青岛大学附属医院儿童呼吸心血管内科,青岛 266555
    3. 青岛市黄岛区中心医院儿科,青岛 266000
  • 收稿日期:2024-07-18 修回日期:2024-10-07 出版日期:2024-12-01
  • 通信作者: 毛成刚
  • 基金资助:
    山东省自然科学基金(ZR2017PH040)青岛西海岸新区2019年度科技项目(2019-57)

Childhood sick sinus syndrome:a case report and literature review

Jianxiang Gao1,2, Zhenghai Qu2, Xingqing Guo2, Fang Wang2, Jia Zheng3, Chenggang Mao2,()   

  1. 1. Qingdao Medical College of Qingdao University,Qingdao 266071,Shandong Province,China
    2. Respiratory and Cardiovascular Pediatrics,The Affiliated Hospital of Qingdao University,Qingdao 266555,Shandong Province,China
    3. Department of Pediatrics,Qingdao Huangdao District Central Hospital,Qingdao 266000,Shandong Province,China
  • Received:2024-07-18 Revised:2024-10-07 Published:2024-12-01
  • Corresponding author: Chenggang Mao
引用本文:

高健翔, 曲政海, 郭兴青, 王芳, 郑佳, 毛成刚. 儿童病态窦房结综合征1例并文献复习[J/OL]. 中华妇幼临床医学杂志(电子版), 2024, 20(06): 692-699.

Jianxiang Gao, Zhenghai Qu, Xingqing Guo, Fang Wang, Jia Zheng, Chenggang Mao. Childhood sick sinus syndrome:a case report and literature review[J/OL]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2024, 20(06): 692-699.

目的

探讨儿童病态窦房结综合征(SSS)的临床表现、诊断和治疗。

方法

选择2023年4月青岛大学附属医院收治的1例SSS患儿为研究对象。采用回顾性分析法,收集患儿入院后检查结果、主要治疗经过及转归。以“病窦综合征” “病态窦房结综合征” “窦房结功能不良” “窦房结功能不全” “窦房结功能障碍” “病窦” “SCN5A” “GNB5” “儿童”为中文关键词,检索中国知网、中华医学期刊全文数据库等;再以“sick sinus syndrome” “syndrome,sick sinus” “sick sinus node syndrome” “sinus node dysfunction” “dysfunction,sinus node” “dysfunctions,sinus node” “sinus node disease” “sinus node diseases” “child” “children” “child,only” “only children” “children,only” “minor” “school-age children”为英文关键词,检索Pub Med、Web of Science(WOS),OMIM(https://omim.org/)数据库。上述中、英文数据库的检索时间均设定为数据库建库至2024年4月。本研究经青岛大学附属医院伦理委员会批准(批准文号:QYFY WZLL 28844),患儿监护人对诊治知情同意并签署知情同意书。

结果

①本例患儿为男性,2岁7个月龄,因 “间断发热8 d,走路不稳6 d”,2023年4月首次于青岛大学附属医院就诊,首发症状为发热、步态不稳。入院后,患儿心脏彩色多普勒超声检查结果显示室间隔缺损、室间隔膜部瘤、卵圆孔未闭;24 h动态心电图检查结果显示,窦性心律并异位心律,阵发性不纯性心房扑动,房性早搏,交界性逸搏及逸搏心律,频发室性早搏,短阵室性心动过速,T 波动态变化;基因检测结果显示,SCN5A 基因第9 号外显子发生SCN5A 杂合无义变异(NM_198056.3):c.1036G>T(p.Glu346Ter),该变异位点来自其母亲。对患儿采取甲泼尼龙(2 mg/kg)+丙种球蛋白(1 g/kg×1次)+磷酸肌酸钠+维生素C等药物治疗,头孢曲松钠抗感染治疗及对症支持治疗。患儿发热、步态不稳等症状消失,复查24 h动态心电图仍可见多种心律失常。2023年6月,患儿于外院进行经皮室间隔缺损封闭术+经皮房间隔缺损封闭术+永久起搏器置入术治疗,目前患儿无临床症状发作。②文献复习结果:根据本研究设定的文献检索策略,检索涉及关于儿童SSS的相关临床研究文献为28篇,其中中文文献2篇,英文文献26篇,纳入研究的SSS患儿共计80例。这80 例患儿以神经系统症状合并心律失常为主要临床特点,共发现SCN5AGNB5MECP2HCN4KCNJ3KCNJ5 这6种基因变异。

结论

SSS是引起儿童晕厥、抽搐的原因之一,对于有神经系统症状合并缓慢性心律失常的SSS患儿,应考虑进一步基因检测明确诊断。

Objective

To investigate the clinical manifestations,diagnosis,and treatment of childhood sick sinus syndrome (SSS).

Methods

A 2-year and 7-month-old boy with SSS admitted to the Affiliated Hospital of Qingdao University in April 2023 was selected into this study.A retrospective analysis was conducted to collect this boy's examination results after admission,main treatment process,and outcomes.And"sick sinus syndrome""syndrome,sick sinus""sick sinus node syndrome""sinus node dysfunction""sinus node disease""sinus node diseases""child""children""child,only""only children""children,only""minor""school-age children"were used as keywords to search databases such as China National Knowledge Infrastructure (CNKI),Chinese Medical Journal Network,Pub Med,Web of Science (WOS),and OMIM(https://omim.org/)databases.The search time for the above Chinese and English databases was set from the establishment of the database to April 2024.This study was approved by the Ethics Committee of the Affiliated Hospital of Qingdao University (Approval No.QYFY WZLL 28844),and informed consent was obtained from the boy's guardians.

Results

①This boy was 2-year and 7-month-old.He was admitted to the Affiliated Hospital of Qingdao University in April 2023 with complaints of intermittent fever for 8 d and unsteady walking for 6 d.The initial symptoms of the boy were fever and unsteady gait.Echocardiography upon admission revealed ventricular septal defect,membranous ventricular septum aneurysm,and patent foramen ovale.The 24-hour Holter monitor showed sinus rhythm with ectopic rhythm,paroxysmal atrial flutter,atrial premature beats,junctional escape beats and escape rhythm,frequent ventricular premature beats,short runs of ventricular tachycardia,and dynamic changes in T-waves.Genetic testing r esults showed a heterozygous nonsense mutation in exon 9 of the SCN5A gene (NM_198056.3):c.1036G>T (p.Glu346Ter),which was inherited from his mother.The boy was treated with methylprednisolone(2 mg/kg),intravenous immunoglobulin(1 g/kg×1 dose),sodium creatine phosphate,vitamin C,ceftriaxone sodium for anti-infection treatment,and symptomatic supportive care.The boy's fever and gait instability resolved,but multiple arrhythmias were still observed on the follow-up 24-hour Holter monitor.In June 2023,the boy was treatment by percutaneous closure of the ventricular septal defect and atrial septal defect,as well as permanent pacemaker implantation at another hospital.As of now,the boy is free of clinical symptoms.②Literature review results:Based on the literature search strategy set for this study,28 articles related to childhood SSS,including 2 Chinese articles and 26 English articles were included,for a total of 80 SSS patients.The 80 patients primarily presented with neurological symptoms combined with arrhythmias,and six gene variations were identified,including SCN5AGNB5MECP2HCN4KCNJ3,and KCNJ5.

Conclusions

SSS is one of the causes of syncope and seizures in children.For SSS patients with neurological symptoms combined with bradycardia,genetic testing should be considered for further diagnosis.

图1 本研究病态窦房综合征患儿(男性,2岁7个月)及其父母SCN5A 基因Sanger测序图[图1A:患儿SCN5A 基因c.1036G>T 杂合无义变异(红色箭头所示);图1B:患儿父亲未发现基因变异(红色箭头所示);图1C:患儿母亲存在相同位点杂合无义变异(红色箭头所示) ]
图2 SCN5A 基因变异后的蛋白质结构预测图(采用SWISS-MODEL软件构建)
表1 本研究纳入的80例病态窦房结综合征患儿变异基因种类、例数、变异位点类型及预后比较
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