扩张型心肌病

扩张型心肌病是以左心室扩张伴收缩功能障碍为特征的心脏疾病,其病因尚不完全明确,是儿童和青少年心源性猝死的最常见病因.患儿有恶性室性快速性心律失常的倾向,易发生心脏性猝死,如何合理治疗、提高患儿成活率和生活质量是目前面临的主要问题.     

先天性长QT综合征并先天性完全性房室传导阻滞及恶性室性心律失常1例北大核心CSCD

在临床上,完全性房室传导阻滞（CAVB）并QT问期延长和尖端扭转型室性心动过速（TdP）或心室颤动（室颤）的患儿少见。QT间期延长的原因可为先天性长QT综合征（LQTS）并CAVB,亦可为CAVB过缓的心率导致获得性QT间期延长,这2种原因均可经植入永久性心脏起搏器后缩短QT间期,从而减少TdP或室颤发生。现报道2014年10月诊治的1例先天性LQTS并先天性CAVB及TdP和室颤,且接受心脏起搏治疗后未再发生恶性室性心律失常的患儿,讨论其可能的发病机制、诊断要点和治疗方案,为临床类似病例的诊治提供参考。     

先天性长Q—T间期综合征9例报告

先天性长Q-T间期综合征(LQTS)是一组伴有室性心律失常(常为尖端扭转型室速,Tdp)、晕厥发作或心源性猝死的综合征。本文就9例先天性LQTS临床分析如下。     

儿童 J 波综合征 1 例报告并文献复习

目的探讨J波综合征的临床特征。方法回顾分析1例因晕厥收治入院的J波综合征患儿的临床资料,并复习相关文献。结果男性患儿,10岁,无明显诱因出现晕厥。心电图提示J点抬高,呈Osbron波表现;彩色超声心动图示心脏结构大致正常,左心室收缩功能正常;脑电图、头颅CT无异常。在随访过程中出现频繁晕厥,并伴有恶性心律失常表现。结论 J波综合征患者是发生恶性心律失常及心源性猝死的高危人群。     

心脏正常的儿童室性心律失常的诊断及治疗

该文报道室性心律失常在健康儿童中的发生率,概括总结近年有关儿童室性心律失常的诊断及治疗,并对各种室性心律失常患儿的预后进行估计。另外,论述了儿童二尖瓣脱垂及先天性 QT 间期延长综合征两种特殊情况下的心律失常。     

窒息新生儿QT间期延长病因探讨

本文报道18例窒息新生儿QT间期延长，QTc0．489±0．041。对其病因进行探讨，发现本组患儿均有心肌酶同功酶CK－MB增高，低钙血症及颅内出血改变，提示窒息缺氧所致心肌损伤、低血钙及颅内病变在本组患儿QT间期延长中均起一定作用。QT间期延长的危险性在于可诱发尖端扭转型室性心动过速，造成摔死，故此心电图表现应引起重视。积极纠正及去除病因，及时治疗伴随的各种心律失常，监测心电图变化等是治疗的关键。     

危重新生儿继发性长QT综合征引发2:1房室传导的临床分析及治疗

长QT综合征（LQTS）是指心电图上表现为QT间期延长、ST-T波异常，易产生恶性室性心律失常的一组综合征。我院1995至2005年诊治的危重新生儿中，有7例出现了继发性QT间期延长并引发2：1房室传导，现将其临床诊断及治疗分析报告如下。     

心律失常的非药物治疗现状及进展

近10年来，应用射频导管消融根治快速型心律失常如预激综合征、房室结折返性心动过速（AVRT）、房性心动过速、心房扑动、特发性室性心动过速和频发性室性期收缩，取得极好疗效，已成为根治上述心律失常的首选方法；且适应证趋于小龄化。植入永久性心脏起搏器治疗小儿缓慢型心律失常也在逐步开展，治疗范围不仅包括常见的高度房室传导阻滞和窦房结功能障碍，还涉及严重的血管迷走性晕厥和伴心动过缓的先天性长QT综合征。埋藏式心脏复律除颤器（ICD）治疗恶性室性心律失常在我国儿科领域目前尚属空白。本文旨在介绍射频导管消融、永久性心脏起搏器及ICD治疗不同类型小儿心律失常的现状、适应证、方法、术中可能发生的问题及预防策略。     

新生儿心律失常42例

目的：了解新生儿心律失常的病因、临床特点及治疗方法。方法：新生儿心律失常42例病因为感染18例，缺氧11例，先天性心脏病4例，原因不明6例；心律失常表现为室上性心律失常23例，传导异常11例，室性心律心常7例，窦性心动过缓1例；临床主要表现为气促、烦燥不安、面色苍白、阵发性发绀、拒奶及呕吐等非特异性症状。均予营养心肌药物，室上性心动过速者予普罗帕酮，阵发性室性心动过速予利多卡因，预激综合征予普荼洛尔。结果：出院后随访3个月，37例心电图恢复正常，40例存活，2例死亡。结论：新生儿心律失常病因以感染及缺氧为主；临床以快速性心律失常多见，表现无特异性；预后良好。     

新生儿狼疮综合征并室性心动过速1例

对华中科技大学同济医学院附属协和医院儿科收治的1例新生儿狼疮综合征并室性心动过速伴发育异常患儿的临床资料进行回顾性分析。患儿,女,3 d;临床特点为室性心律失常、皮疹、黄疸、发育异常;查体:脉率快,皮肤黄染,宽眼距、内眦赘皮、高鼻梁,右侧通贯掌;抗干燥综合征抗原A(SSA)抗体、抗Ro-52抗体阳性,心电图示阵发性室性心动过速(伴室房逆传),染色体核型分析示46,XX。予心电监护、抗心律失常、抗感染、保护心功能、免疫球蛋白、退黄等治疗,住院11 d后病情好转出院;定期随访至出生8个月,患儿恢复可。新生儿狼疮综合征临床表现不典型,心脏损害较为突出,除心脏传导阻滞外,也可能导致其他心律失常,如室性心动过速。     

小儿心导管、心血管造影检查中心律失常相关因素及防治

目的　探讨小儿先天性心脏病(先心病)心导管和/或心血管造影检查中心律失常的发生率、相关因素以及防治措施。方法　512例小儿先心病,常规心导管和/或心血管造影检查,对术中489例不同程度心律失常发生的相关因素及严重心律失常的防治进行分析。结果　心律失常发生率为973%,其中严重心律失常占62%。导管位于右室流出道及三尖瓣口处心律失常发生率最高,分别为307%,261%。严重心律失常31例,其中紫绀型复杂先心病占645%,左向右分流先心病并重度肺动脉高压者占355%。结论　心导管和/或心血管造影检查中,严重心律失常发生的相关因素有心脏本身畸形的程度、肺动脉高压的轻重、心功能状态以及造影剂用量、种类、速度等。术中一旦出现严重心律失常,需立即消除诱因,积极采取药物治疗等急救措施     

儿童长QT综合征及其尖端扭转型室性心动过速的预防、管理与紧急处理

长QT综合征(Long QT interval syndrome,LQTS)是以心电图上QT间期延长和室性心律失常为特征的一种离子通道病.该病的发生与钾通道蛋白、钠通道蛋白、钙通道相关因子和膜适配蛋白的基因突变密切相关,现已证实了13种导致LQTS的突变基因.其临床特征主要表现为心电图QT间期异常延长、巨幅T波交替等,以及因此发生的尖端扭转型室性心动过速(Torsades de Pointes)、晕厥甚至猝死.心律失常事件的发生和基因型密切相关.LQTS1通常在运动和情绪激动时发生心律失常,而LQTS2则在安静时或突然出现声音时发生.儿童LQTS合并尖端扭转型室性心动过速发作时可导致循环灌注迅速恶化,具有生命危险,需要紧急处理.尖端扭转型室性心动过速发作的紧急处理包括静推硫酸镁、直流电击转复心律失常、纠正电解质等内环境紊乱、去除导致QT延长的药物.LQTS治疗的长效管理包括生活方式干预、口服β受体阻滞剂、植入心律转复除颤仪、左心交感神经切除以及靶向药物等.     

Neonatal long QT syndrome and sudden cardiac death

Neonatal sudden cardiac death most often results from cardiac electrical diseases, cardiomyopathies, or sudden infant death syndrome. In infants without a known premortem diagnosis or abnormalities identified at autopsy, sudden infant death syndrome accounts for the vast majority of sudden deaths. Potential cardiac causes of some sudden infant death syndrome cases may include malignant brady- or tachyarrhythmias and congenital long QT syndrome. The possible mechanisms include abnormal brain stem respiratory control of arousal, dysautonomia and malignant cardiac bradyarrhythmias or tachyarrhythmias. Screening for neonatal sudden cardiac death may not be feasible, but hopefully through careful review of history, physical examination, and family health history, and judicious diagnostic testing, can the risk of cardiac sudden death be reduced. Further comprehension of the genetic basis of inherited arrhythmia disorders may help elucidate the mechanisms of arrhythmogenesis and etiologies of sudden infant death. Prevention and treatment of these disorders may also be improved through more detailed understanding of the molecular basis of cardiac electrical pathophysiology.     

猝死与线粒体病

猝死指平时身体健康的人因自然疾病突然死亡,一般指发病6 h以内死亡。意外猝死可发生在新生儿(新生儿猝死综合征)至成年(成人猝死综合征)各个时期,可以在日常活动、睡眠或运动中发生,潜在的遗传疾病是导致猝死的重要原因。通过对猝死患者的病因研究,证实多种遗传疾病导致的心脏病、脑病是导致猝死的两组主要疾病,其中心脏性猝死占50%以上。已知多种遗传性疾病可导致猝死,线粒体病是其中一组病因。一些线粒体病可引起急性心功能衰竭、恶性心律失常或脑病,导致猝死。随着基因诊断技术的进步,一些猝死患儿通过尸检基因诊断得到了确诊,有助于家族成员的遗传咨询,指导父母再生育时的胎儿诊断。     

右心房异构引起的远期结果及心律失常

目的　回顾性研究右心房异构患儿的远期结果及有症状性心律失常的发生率及其与死亡的关系。方法　回顾 1980年 1月～ 2 0 0 0年 12月收治的 116例右心房异构婴幼儿和儿童的治疗和预后情况。将右心房异构的患儿分为肺静脉正常回流和肺静脉异位回流两组 ,通过比较两组患儿的预后来分析导致预后不良的因素 ,并对其中已经完成或准备接受外科手术治疗的 85例 ,分析其有症状性心律失常的类型、发病时间和发病诱因 ,从而了解有症状性心律失常对患儿的长期预后所造成的影响。结果　 116例中 ,大多数患儿 ( 96 % )的临床症状是紫绀 ,出现临床症状的年龄中位数为 1天(范围 1天～ 3 7岁 )。其中 31例 ( 2 7% )无手术适应证 ,最终死亡。早期肺静脉修复手术的死亡率为2 /8例 ) ,Fontan手术的早期死亡率为 2 6 % ( 5 /19) ,腔肺静脉分流术的早期死亡率为 8% ( 1/13) ,体肺循环动脉分流术的早期死亡率为 2 % ( 1/5 3)。晚期死亡与感染 (n =11)、原因不明的突然死亡 (n =7)和心律失常 (n =1)有关。肺静脉正常回流的患儿 ,其中 1、5、10和 15岁患儿的平均存活率分别为( 81± 5 ) %、( 6 7± 7) %、( 6 0± 8) %和 ( 4 3± 12 ) % ,与非阻塞性肺静脉异位回流患儿的平均存活率相似。导致高死亡率的危险因素包括肺静脉回流阻     

Congenital Left Ventricular Diverticulum Manifested as T-Wave Inversion in a Child

Congenital diverticulum of the ventricle is a rare disease, but most cases of congenital left ventricular diverticula are asymptomatic. We present a child with congenital left ventricular diverticulum whose routine electrocardiographic examination showed T-wave inversion in inferior and V4 to V6 leads. He was successfully repaired surgically.     

Catecholaminergic polymorphic ventricular tachycardia in a child: a case report

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrythmogenic disease characterized by exercise--or stress--induced ventricular tachyarrythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance may be autosomal dominant or recessive, usually with high penetrance. The causative genes have been mapped to chromosome 1. Mutations of the cardiac ryanodine receptor gene (RyR2) have been identified in autosomal dominant pedigrees, while calsequestrin gene (CASQ2) mutations are seen in recessive cases. CONCLUSION: Due to its potential lethal outcome, exclusion or confirmation of catecholaminergic polymorphic ventricular tachycardia in children with physical and emotional syncope is mandatory. We report a case of catecholaminergic polymorphic ventricular tachycardia in a three-year-old child only diagnosed by genetic mapping.     

Left Thoracoscopic Sympathectomy Used as Primary Therapy for a Young Child With Intractable Long QT Syndrome

A 3-year-old boy with familial long QT syndrome type 2 presented with recurrent syncope despite adequate beta-blocker therapy. Two family members had experienced sudden cardiac arrest, and one other relative had experienced sudden cardiac death. Given the high risk for ventricular arrhythmia/syncope, the decision was made to perform primary cardiac denervation therapy through a minimally invasive approach without concomitant automatic cardioverter-defibrillator implantation. Using video-assisted thoracoscopic surgery, the left-sided sympathetic ganglia from T2–T5 were identified, and dissection along the sympathetic chain with transection of the corresponding rami along T2–T5 in addition to the lower half of the stellate ganglion was performed. The chest tube was removed on day 1 after surgery, and the patient was discharged on postoperative day 4. During 14 months of follow-up evaluation, no intervening episodes of ventricular arrhythmia or syncope and no symptoms of Horner’s syndrome were noted.     

Cardiac syncope in children]

Syncope is a frequent problem in childhood; generally, it is an isolated event and the common causes are benign. However, in some circumstances, syncope can herald a potentially lethal problem, especially when occurring during exercise. Routine evaluation includes history, physical examination and a 12-lead standard ECG should be performed in all cases. Worrying features which should be an indication for further investigation include syncope during exercise, collapse in a swimming pool, history of familial sudden death, and abnormalities on clinical exam or ECG. Structural cardiac abnormalities that may cause syncope and sudden death include aortic stenosis, hypertrophic cardiomyopathy and coronary malformations. All children with unrepaired or repaired congenital heart disease who experienced a syncope should be referred to a specialist. Primary arrhythmias that are easily diagnosed on ECG are the long QT syndrome, complete atrio-ventricular block and Wolff-Parkinson-White syndrome; ST elevation in V1-V3 may reveal a Brugada syndrome. Another arrhythmia which is known to be potentially fatal if undiagnosed is the catecholaminergic ventricular tachycardia; the baseline ECG is normal but the arrhythmia is easily reproduced during exercise testing. Finally, vasovagal syncope is the most likely cause of syncope in the young and it usually easily recognized.     

Perinatal manifestations of idiopathic long QT syndrome

A neonate who had presented with sustained irregular heart rate during labor was found to have QT prolongation and repetitive polymorphic ventricular tachycardia (torsades de pointes) postnatally. Propranolol and propafenone successfully controlled the ventricular arrhythmias. Follow-up electrocardiograms and Holter records show persistent QT prolongation, bizarre T waves, and intermittent episodes of T wave alternans. On propranolol monotherapy the boy is thriving and completely free of ventricular arrhythmias. In the rare case of long QT syndrome in the neonate, early detection and therapy are mandatory to prevent ventricular arrhythmias and sudden death.