新生儿发绀型先天性心脏病102例

目的了解新生儿发绀型先天性心脏病的类型分布及临床特点。方法对可疑病例予彩色多普勒超声心动图(CFM)检查,死亡病例尸解。结果本组完全性大血管转位最多见,占34.3%,多为复合畸形。临床表现以发绀最常见,占84.3%,部分病人无发绀、气促、心脏杂音。复合畸形患儿多并Ⅱ型呼吸衰竭、代谢性酸中毒。结论发绀型先天性心脏病类型众多,临床表现不典型,对可疑病例应尽早作CFM检查。     

脉搏氧饱和度检测在高原地区先天性心脏病筛查中的意义

目的探讨脉搏氧饱和度(SPO2)检测在高原地区先天性心脏病(CHD)新生儿早期筛查中的意义。方法在本院妇产科因高危妊娠、窒息、黄疸、早产等原因会诊的新生儿386例,通过临床查体和SPO2测定,将SPO2≤90%的新生儿进一步行超声心动图、胸片检查,做出补充诊断和治疗。将SPO2≤90%的171例患儿分为轻度缺氧组(SPO2≥86%～90%)和重度缺氧组(SPO2≤85%),比较分析2组CHD患儿的检出率。结果 386例中SPO2≤90%者171例。其中胸片、超声心动图正常者35例,占20%(其SPO2均>86%);诊断肺炎77例,占45%;诊断CHD 59例,占34%,其中PDA 28例,ASD 16例,VSD 5例,法洛四联症、ASD并PDA各3例,肺动脉狭窄2例,完全性大动脉转位、主动脉弓断离各1例。轻度缺氧组48例中诊断CHD 8例,其检出率为16.6%;重度缺氧组123例中诊断CHD 51例,其检出率41.4%,重度缺氧组CHD检出率明显高于轻度缺氧组(P=0.001)。结论 SPO2检测在高原地区新生儿CHD筛查中可作为除体格检查以外的一项重要简便筛查项目,可提高高原地区新生儿CHD的早期诊断率。     

彩色多普勒超声心动图顺序分段探查新生儿青紫型先天性心脏病106例分析

目的　探讨彩色多普勒超声心动图（ＣＦＭ）诊断新生儿青紫型先心病的可行性和优越性。方法　应用ＣＦＭ 探查新生儿青紫型先心病１０６ 例,按超声顺序分段探查法确定先心病的类型。结果　完全性大动脉转位４４ 例（４１－５ ％）居本组首位;肺动脉闭锁２３ 例（２１－７％ ）居第２ 位;危重型法乐四联症１６ 例（１５－１％ ）居第３ 位;完全性肺静脉异位引流８ 例（７－５％） 居第４ 位;极重型肺动脉瓣狭窄５ 例（４－７ ％）居第５ 位;左心发育不良综合征４ 例（３－８ ％） 居第６ 位;其他包括三尖瓣闭锁２ 例（１－８ ％）;三尖瓣下移畸形、永存动脉干、左心室双出口、纠正型大动脉换位各１ 例,均占０－９％ 。结论　ＣＦＭ 不仅安全无创且诊断准确率高,是临床评价新生儿青紫型先心病的首选无创性检查手段。     

发绀型先天性心脏病患儿血清生长激素释放肽及瘦素水平的变化及临床意义

目的 探讨发绀型先天性心脏病(CHD)患儿血清生长激素释放肽(Ghrelin)及瘦素水平变化的意义.方法　选择2007年6月-2009年12月就诊于中国医科大学附属第一、二院CHD患儿42例.其中发绀型 CHD 患儿(发绀组)17例.男10例,女7例;年龄(37.2±16.5)个月.非发绀型 CHD 患儿(非发绀组)25例.男13例,女12例;年龄(35.6±19.3)个月.健康对照组20例.男12例,女8例;年龄(33.8±17.7)个月.双抗体夹心ELISA法测定其血清 Ghrelin水平,放射免疫法测定其血清瘦素水平.测定各组儿童身高、体质量及体质量指数(BMI).应用 SPSS 13.0软件对数据进行统计学分析.结果 与健康对照组比较,发绀组及非发绀组 Ghrelin 水平增高,其中发绀组升高更明显,差异均有统计学意义(Pa＜0.01).发绀组血清瘦素水平低于健康对照组及非发绀组,差异均有统计学意义(Pa＜0.01);非发绀组血清瘦素水平与健康对照组比较差异无统计学意义(P＞0.05).发绀组及非发绀组 CHD 患儿血清 Ghrelin 水平与BMI均呈负相关(r=-0.66、-0.62,Pa＜0.01),血清瘦素水平与BMI均呈正相关(r=0.72、0.75,Pa＜0.01).结论　发绀型 CHD患儿血清 Ghrelin水平增高,瘦素水平降低,可能与此类患儿长期慢性缺氧及全身消耗状态有关.     

主动脉弓离断20例临床分析及诊断探讨

总结20例主动脉弓离断(IAA)临床资料，以期提高对本病的早期正确诊断率。方法对1981 年1月至2000年5月8481例心血管造影检查中确诊为IAA的15例患儿以及同期内经尸体解剖确诊为IAA 的5例患儿的临床表现、辅助检查及临床转归进行分析总结。结果IAA约占先天性心脏病病例中行心血管 造影检查者总数的0.2％。20例患儿中A型占70％,B型占30％，未发现C型病例。除四肢脉搏及血压的改变 有一定特异性外，其它临床表现、X线胸片及心电图检查等均无特异性。结论IAA是一种少见的先天性心脏 病，其生存率与能否早期发现并及时治疗密切相关。如能提高对本病的诊断意识，在临床工作中注意提示IAA 存在的一些征象，辅以适当的实验室检查，早期诊断与及时治疗是可以做到的。     

先天性肺囊性疾病52例

目的 探讨儿童先天性肺囊性疾病的诊断、手术治疗方法及预后.方法 回顾性分析2003年1月至2012年6月在复旦大学附属儿科医院住院手术治疗的先天性肺囊性疾病儿童52例.对患儿临床表现、病变部位、影像学、病理学、漏诊误诊、手术治疗方法和短期肺功能进行统计分析.结果 52例先天性肺囊性疾病患儿中,男33例,女19例;年龄1 d～159个月,中位数为3.67个月;新生儿5例.病种:支气管源性肺囊肿42例,肺隔离症6例,大叶性肺气肿3例,先天性囊性腺瘤样畸形1例.临床表现以肺部感染为主,其中61.5％的患儿首次肺部感染后确诊,21.1％的患儿在反复呼吸道感染后确诊,约17.3％的患儿无症状.病变部位以右下肺最多见,约占36.5％.影像学以多发气囊肿最多见,约占42.3％.病理结果均提示支气管源性.漏诊率为17.3％,误诊率为24.9％,其中支气管源性肺囊肿误诊率为19.2％.治疗以肺叶切除术为主,无死亡病例.结论 小儿先天性肺囊性疾病的术前诊断主要依靠影像学检查,临床表现有助于早期识别,术前易漏诊误诊,术后病理有助于确诊,手术疗效肯定,预后好.     

新生儿先天性心脏病924例临床及彩超评价

目的 1.了解新生儿先天性心脏病的分布及其临床特征。2.应用彩色多普勒超声心动图（CFM)评价新生儿先天性心脏病。方法 连续探查本院14年间924例新生儿，观察其各房室、大血管的情况。结果 1.新生儿非青紫型心脏病较青紫型心脏病多见，青紫型先心病的危重复杂型。2.非青紫型心脏病以单纯型室间隔缺损（VSD）发病率最高，其次分别的动脉导管未闭（PDA）、房间隔缺损（ASD）等，PDA的发生率随日龄的增长而下降。3.青紫型心脏病以完全性大动脉转位（TGA）居首位，其他依次为肺动脉闭锁、危重型法洛四联症、完全性肺静脉异位引流、左心发育不良综合征等。结论 新生儿先心病类型众多，临床表现复杂，CFM对所有新生儿先心病均能作出明确诊断。     

儿童疑难支气管结核12例

目的 探讨儿童疑难支气管结核(EBTB)的临床特征及支气管镜对其诊断和治疗的价值.方法 收集2008年1月至2011年12月重庆医科大学附属儿童医院收治的12例疑难EBTB患儿病史、临床表现、实验室检查、影像学及支气管镜检查等资料.其中12例患儿行纤维支气管镜术及灌洗术以辅助诊断,4例行支气管内膜病理活检.分析12例患儿临床及支气管镜特征.结果 12例患儿临床症状多样,主要为咳嗽(11例,91.7％),发热(7例,58.3％),另外还有喘息(3例,25.0％)、活动后气促(2例,16.7％)等表现,咯血少见(1例,8.3％);影像学表现主要为肺门和(或)纵隔淋巴结大(10例,83.3％),出现阻塞性肺气肿、肺不张5例(占41.7％),其发生率较其他类型肺结核高;纤维支气管镜示肉芽组织及赘生物阻塞7例(58.3％),干酪样坏死4例(33.3％),管外压迫4例(33.3％),开口狭窄2例(16.7％);其中病变位于右肺8例(66.7％),左肺4例(33.3％).灌洗液结核菌培养阳性6例(50.0％),4例经支气管镜行内膜活检确诊,2例纤维支气管镜检查后胃液涂片找到结核菌.结论 儿童疑难EBTB临床表现多样,支气管镜直观检查、肺泡灌洗术、内膜病理活检对其诊断及病理分型均有重要作用.     

婴儿先天性心脏病93例回顾性分析

目的 探讨婴儿先天性心脏病(CHD)的临床特点,提高早期诊断率.方法 研究对象为2006年1月至2007年6月安徽省蚌埠医学院第一附属医院儿科经彩色多普勒超声心动图(CFM)诊断为CHD的住院婴儿93例,按是否是新生儿分为2组:Ⅰ组:1h至28d(n=14),Ⅱ组:28d至1岁(n=79),对其临床资料进行回顾性分析.结果Ⅰ组CHD以复合畸形为主,共7例(7.5%),以房间隔缺损(ASD)合并室间隔缺损(VSD)最多见(2.2%).Ⅱ组CHD以单纯畸形为主,共66例(71.0%),最常见的CHD类型为VSD(46.2%).两组CHD类型构成比比较有统计学意义(P＜0.05).8例合并心脏外畸形(8.6%).临床表现多样,在Ⅰ组尤其不典型,以呼吸急促、青紫、心脏杂音多见,易反复患肺炎,并发心力衰竭.结论婴儿CHD类型较多,临床表现复杂,对可疑的CHD婴儿应及时行超声心动图检查,早期诊断并制定恰当的治疗方案.     

新生儿脑梗死58例分析

目的 分析近年来收治的58例新生儿脑梗死病例的临床资料及预后,为临床诊治提供可借鉴的经验.方法 对复旦大学附属儿科医院新生儿科1999年1月至2010年12月收治的58例新生儿脑梗死病例的临床资料及随访结果进行回顾性分析.结果 58例脑梗死患儿中52例为足月儿,6例为早产儿.缺血性梗死51例(占87.9％),出血性梗死7例(占12.1％).围产期缺氧缺血是最常见的高危因素(占46.6％).惊厥是新生儿脑梗死最常见的首发症状及病程中最多见的临床表现(占77.6％),其次为阵发性青紫、呼吸暂停及反应差.新生儿脑梗死最易累及大脑中动脉,且左侧多见.新生儿脑梗死急性期以支持和对症治疗为主.预后不良的患儿中,梗死多累及深部灰质核团或波及多个脑叶.结论 围产期缺氧是常见的高危因素.惊厥是最常见的早期临床表现.弥散加权成像技术对急性期脑梗死的诊断价值较高.不良预后的患儿中,梗死多累及深部灰质或范围较广.早期发现、结合头颅影像学检查作出诊断,对于指导康复治疗、改善预后有积极的意义.     

Differential diagnosis of congenital heart disease in the first 3 months of life: Significance of a superior (left) QRS axis

The ECGs of 473 infants under the age of 3 months who were referred to a paediatric cardiological unit were analysed; 47 (10%) of the ECGs showed a superior axis (dominantly negative deflection S wave, in lead aVF). Of these, the majority of noncyanosed patients with plethora on chest x-ray proved to have either an atrioventricular canal defect or a large ventricular septal defect. When cyanosis and pulmonary plethora on x-ray were present, tricuspid atresia with increased pulmonary flow (types Ic or IIc) or d-transposition with ventricular septal defect accounted for most cases. With cyanosis and pulmonary oligaemia on x-ray, tricuspid atresia (types Ia and b) or pulmonary atresia with ventricular septal defect accounted for all cases. Finally, 2 patients with superior axis presenting in a shocked condition were found to exhibit the hypoplastic left heart syndrome.Recognition of superior axis in the ECG provides a useful diagnostic aid in congenital heart disease in early infancy.     

Congenital Heart Disease in Infants of Diabetic Mothers: Echocardiographic Study

Our objective was to study neonates born to insulin-dependent diabetes mellitus (IDDM) mothers to detect the spectrum of congenital heart disease (CHD). Between July 2000 and June 2001, a prospective study of 100 consecutive infants of diabetic mothers (IDMs) at King Khalid University Hospital in Riyadh was undertaken. Family and maternal history, physical examination with special attention to the cardiovascular system, and echocardiography were performed. A total of 100 consecutive IDMs examined. The most common echocardiographic findings were patent ductus arteriosus (PDA; 70%), patent foramen ovale (68%), atrial septal defect (5%), small muscular ventricular septal defect (4%), mitral valve prolapse (2%), and pulmonary stenosis (1%). Hypertrophic cardiomyopathy (HCMP) was observed in 38% of cases, mainly hypertrophy of the interventricular septum. Severe forms of CHD encountered were D-transposition of great arteries, tetralogy of Fallot, and hypoplastic left heart syndrome (1% each). Isolated aortic stenosis and coarctation of aorta were not encountered in this series. Overall incidence of congenital heart disease was 15% after excluding PDA and HCMP. Maternal IDDM is a significant risk factor for CHD. Careful evaluation and early diagnosis of CHD in this high-risk group are highly indicated. There is a need for development of prenatal screening programs for CHD in our population.     

Prevalence and distribution of congenital heart diseases in Indre-et-Loire. Evaluation of prenatal diagnosis (1991-1994)]

Congenital heart diseases are the most frequent malformation at birth. New technologies have improved diagnosis procedures (echocardiography and Doppler). The aim of our study was to evaluate the prevalence of congenital heart diseases, their different types, and the detection rate of antenatal diagnosis. METHODS: A retrospective study was performed for all infants with congenital heart disease (CHD), born between January 1st 1991 and December 31st 1994, and for all fetuses which died after disruption of pregnancy, in Indre-et-Loire (a French country). In all cases, CHD diagnosis was confirmed with echocardiography and Doppler. RESULTS: CHD prevalence in newborns was 9.8% and 10.4% for the total population including dead fetal material. A high proportion of septal defects (64.8%) was observed with muscular, isolated and small forms (< 3 mm) in 70.2% of cases. The prevalence of great vessels transposition (0.15%), left ventricular hypoplasia (0.11%), and atrioventricular septal defect (0.11%), were lower than in previous studies. The performance of antenatal diagnosis was estimated at 40.5% for the four years; the prevalence of detectable CHD was only 1.4/1000. The atrioventricular septal defect was the most frequently detected. CONCLUSION: Relative high prevalence of congenital heart disease in this French county is due to the high level of small septal defects. Prevalence of detectable CHD remains low, which explains in part the difficulties of improving the antenatal diagnosis.     

新生儿先天性心脏病危险因素的病例对照研究

目的探讨新生儿先天性心脏病（简称＂先心病＂）的类型及其可能的危险因素,为制定预防措施提供参考依据。方法采用1∶1配对病例对照研究方法,选取2011年5月至2013年12月在本院新生儿科住院治疗的先心病患儿为病例组,无先心病的患儿为对照组,对两组患儿的亲生父母进行统一问卷调查。对所有研究因素进行单因素及多因素条件Logistic回归分析.筛选出与先心病发生相关的危险因素。结果研究期间本院新生儿科共收治3682例患儿,病例组和对照组各纳入139例。139例先心病患儿以室间隔缺损为主（34.5%）,其次为房间隔缺损＋室间隔缺损（14.4%）、房间隔缺损（10.8%）和室间隔缺损＋动脉导管未闭（10.1%）。母亲孕前及孕早期糖尿病（OR=7.321）、孕早期服用抗生素（OR=6.996）、孕早期被动吸烟（OR=4.948）、先心病家族史（OR=3.252）和孕早期上呼吸道感染（OR=3.461）均是先心病发生的相关危险因素（P〈0.05）。结论应加强孕期健康教育,提高产前产后诊断水平,以早期防治先心病,从而有效降低先心病的发病率。     

社区/乡镇0至3岁儿童先天性心脏病筛查-诊断-评估适宜技术的建立与应用

目的 通过应用7项先天性心脏病（简称先心病）筛查指标和超声心动图诊断技术,评价先心病筛查-诊断-评估体系在中国社区/乡镇医院的运行效果,为进一步推广和实现社区/乡镇医院先心病的早期发现治疗提供依据。方法 ①先心病的筛查：选取5个调查现场（上海市闵行区、江苏省昆山市、山东省宁阳县、重庆市涪陵区和北京市怀柔区）,由经过培训合格的儿科和儿童保健科医生对0～3岁儿童进行筛查。筛查指标包括先心病家族史、呼吸急促、紫绀、特殊面容、心脏杂音、经皮血氧饱和度和其他先天性畸形等7项,≥1项阳性者为筛查阳性。②先心病的诊断：由培训合格的儿科超声心动图医生对上述筛查中发现异常的儿童进行诊断。③先心病的评估：由儿科心血管专科医生对诊断为先心病的儿童进行评估。④先心病的信息化管理：建立社区/乡镇医院先心病儿童的网络信息化管理系统,将上述筛查、诊断和临床评估的数据进行网络化填报,实现远程数据管理。结果 ①先心病的筛查：2011年8月1日至2012年8月1日,共对63 839名儿童进行了先心病的筛查（应答率96.9％）,筛查阳性者736名。②先心病的诊断：734/736名筛查阳性儿童接受了超声心动图检查,确诊为先心病278例（先心病发病率为4.4‰）,其中,室间隔缺损138例、房间隔缺损77例、动脉导管未闭36例、肺动脉狭窄8例、法洛四联症7例、肺动脉闭锁3例、房室间隔缺损3例、肺静脉异位引流2例、主动脉缩窄2例、单心室2例。③7项和3项（心脏杂音+紫绀+经皮血氧饱和度）筛查指标检出先心病的敏感度均为95.68%,特异度分别为99.26%和99.32%,7项和3项筛查指标阳性预测值和阴性预测值均在同一水平;④先心病的评估：278例诊断为先心病的患儿均接受了评估,至研究结束122例患儿接受了外科手术,均恢复良好,其余患儿均纳入随访。结论 在中国社区/乡镇医院建立先心病筛查-诊断-评估体系可以实现先心病的早期发现、早期诊断,并可及时进行干预。     

Ventricular septal defect with mobile tricuspid valve pouch mimicking tetralogy of Fallot

Summary A newborn with partial deletion of the long arm of chromosome six presented with cyanosis at birth. Initial studies suggested the diagnosis of tetralogy of Fallot and the infant underwent a Waterston shunt procedure with subsequent clinical improvement. The infant subsequently died of unrelated causes. Autopsy revealed a ventricular septal defect and a dysplastic pouchlike structure related to an anomalous tricuspid valve leaflet which obstructed right ventricular outflow. Classical anatomic findings of tetralogy of Fallot were absent. Clinical and echocardiographic findings that would be expected to aid early diagnosis of future cases are presented.     

新生儿小婴儿先天性心脏病围术期肺炎的临床特征

目的 总结新生儿小婴儿先天性心脏病嗣术期肺炎临床特征,提高该类型肺炎诊治水平.方法 回顾性分析2006年10月至2009年9月,体重≤5 kg和/或年龄≤3个月病例309例,其中男196例,女113例,包括室间隔缺损206例,房间隔缺损126例,单纯动脉导管未闭18例,中重度肺动脉高压160例,完全性大血管错位37例,肺动脉闭锁11例,完全性肺静脉畸形引流9例,完全型心内膜垫缺损7例,主动脉弓离断5例,右室双出口5例.根据术前、术后呼吸道症状、体温、氧合指数、血白细胞计数、X线胸片等诊断肺炎.结果 全组围术期肺炎患病率58.9%(182/309),总病死率7.1%(13/182),机械通气(47.44±38.0)h,术后ICU(5.2±4.1)d.Logistic回归分析提示早产儿、营养不良、反复感染史、肺高压、复杂先天性心脏病、急诊手术、阻断>60 min、延迟关胸、术后低氧、肺不张、气胸或大量胸腔积液、二次气管插管、插管>4 d等与患病密切相关.结论 新生儿小婴儿围术期肺炎患病率高,临床表现复杂,术前在内科治疗的基础上尽早手术,术后早期诊断,加强综合防治,并发心衰应积极处理.     

新生儿先天性心脏病危险因素分析

目的探讨新生儿先天性心脏病(简称先心病)的类型及其可能的危险因素。方法选择2004—2008年在本院出生的165例先心病患儿和同期出生的202例健康儿进行病例对照研究,了解先心病的类型,用单因素卡方检验和多元回归分析其可能的危险因素。结果病例组中室间隔缺损87例,占52.7%,房间隔缺损17例,占10.3%,各类复杂先心病共占29.7%,以完全性大血管转位最多见,其次为法洛四联症。孕早期感冒服药、糖尿病合并妊娠或妊娠期糖尿病、高龄产妇(>35岁)、曾接触杀虫剂或类似药、母亲孕前或孕早期饮酒史、主被动吸烟史、妊娠期高血压疾病、孕早期接触室内装修物及油漆、先兆流产并服药及病毒感染均是先心病发生的相关危险因素(P<0.05)。结论应加强孕期健康教育,提高产前产后诊断水平,以早期防治先心病。     

Increased prevalence of ventricular septal defect: epidemic or improved diagnosis

The Baltimore-Washington Infant Study is an ongoing case-control study of congenital cardiovascular malformations in infants in whom the clinical diagnoses have been confirmed by echocardiography, catheterization, surgery, or autopsy. An increase in the prevalence of ventricular septal defects was detected in 1,494 infants with congenital cardiovascular malformations between 1981 and 1984. The prevalence of congenital cardiovascular malformations increased from 3.6 to 4.5 per 1,000 live births (P less than .025) and the prevalence of ventricular septal defect increased from 1.0 to 1.6 per 1,000 live births (P less than .001). The increase in ventricular septal defects accounted for the total increase in congenital cardiovascular malformations. The prevalence of isolated ventricular septal defect increased from 0.67 to 1.17 per 1,000 live births (P less than .001). The prevalence of ventricular septal defect with associated coarctation of the aorta, patent ductus arteriosus, atrial septal defect, and pulmonic stenosis did not change. The prevalence of ventricular septal defect diagnosed by catheterization, surgery, and autopsy did not change; however, defects diagnosed by echocardiography increased from 0.30 to 0.70 per 1,000 live births (P less than .001). It is concluded that the reported increase in prevalence of ventricular septal defect is due to improved detection of small, isolated ventricular septal defects and that there is no evidence of an "epidemic."     

Incidence and spectrum of congenital heart disease in Oman

We analysed the incidence and spectrum of congenital heart disease (CHD) in the Sultanate of Oman from 1994 to 1996. CHD was detected in 992 of 139,707 live births (incidence 7.1/1000 live births). The common CHDs were ventricular septal defect (24.9%), atrial septal defect (14.4%) and patent ductus arteriosus (10.3%). The frequency of atrioventricular septal defects (5.9%) was higher than reported from other countries. Age at diagnosis was under 1 month in 38% and 1-12 months in 40%. Cyanotic CHD was found in 21.7% of the whole group and 35% of neonates. Although this was a hospital-based study, we believe we included almost all the infants and children with CHD in the country. The incidence and pattern of CHD in Oman were similar to those reported from developed countries in Europe and America, except for a higher frequency of atrioventricular septal defects. The high prevalence of consanguinity in the country did not affect the overall incidence of CHD.