肺动脉闭锁合并室间隔缺损104例诊断分析

目的　分析肺动脉闭锁合并室间隔缺损 (PA/VSD)的解剖类型及血流动力学改变 ,探讨其适宜的手术方式。方法　对 1992年 6月至 2 0 0 2年 5月在广东省心血管病研究所儿科住院的PA/VSD患儿共 10 4例 ,采用超声心动图结合心血管造影术 ,确定闭锁的部位、肺动脉的发育情况及血供来源。结果　右室流出道及瓣膜闭锁、有肺动脉总干 31例 ;肺动脉总干闭锁、左右肺动脉有汇合 5 0例 ;左肺动脉闭锁 10例 ,右肺动脉闭锁 8例 ;左右肺动脉均闭锁 5例。肺动脉的血供来源 :大的主肺动脉侧支血管 5 1例 ,动脉导管未闭 2 7例 ,多支小的侧支血管 2 6例。合并畸形有卵圆孔未闭、房间隔缺损、大动脉转位、完全性房室间隔缺损、右室双出口、镜面右位心、右旋心及左旋心。结论　合并室间隔缺损的肺动脉闭锁可发生在不同部位 ,肺动脉的血供来源多样化     

先天性心脏病170例手术的临床分析

目的临床分析1999～2004年在我院进行手术的170例小儿先天性心脏病病例资料。方法我院1999～2004年对小儿先天性心脏病病例进行了非开心术18例，开心术152例，共170例。结果手术的病例中非青紫型心脏病包括室间隔缺损及联合畸形72例，动脉导管未闭19例，房间隔缺损及联合畸形27例，房室间隔缺损5例，先天性主动脉瓣狭窄及主动脉缩窄5例，冠状动脉瘘1例，肺动脉狭窄6例，有室双腔心2例，共137例。青紫型心脏病包括法洛四联症及联合畸形18例，肺动脉闭锁及室间隔缺损4例，完全肺静脉异常引流2例，肺动脉闭锁及侧支循环形成5例，单心室及联合畸形1例，Ebstein畸形1例，共3l例。瓣膜畸形包括二尖瓣脱垂1例，二尖瓣裂1例，共2例。170例手术病例中有3例死亡，占1.8％。结论先天性心脏病中非青紫型心脏病术后短期效果满意，但青紫型心脏病根据病情及手术方法，术后恢复有所差异，需要长期观察。     

肺动脉闭锁合并室间隔缺损与大型主肺侧支动脉的外科治疗及研究进展

肺动脉闭锁合并室间隔缺损与大型主肺侧支动脉是一类少见的先天性心脏病.目前,随着外科治疗的不断进步以及对该疾病的更深入的认识,分期手术的治疗方案已经得到了越来越多外科医生的认同.     

单源化手术治疗肺动脉闭锁合并室间隔缺损及重要主肺动脉侧支血管

目的 探讨肺动脉闭锁合并室间隔缺损及重要主肺动脉侧支血管的手术方式,评价其临床疗效.方法 2008年7月至2010年8月本院采用单源化手术治疗肺动脉闭锁（PA）合并室间隔缺损（VSD）及重要主肺动脉侧支血管（MAPCAs）患儿8例.男3例,女5例,年龄4～72个月,中位年龄24个月,体重7.5～15.5 kg,平均体重（11.2±2.4）kg.7例采取分期于术治疗,1例采取一期根治手术.结果 全组患儿均存活.随诊6～20个月,1例一期根治手术患儿痊愈;7例分期手术患儿,临床紫绀症状均好转.其中3例肺动脉明显发育,进一步行二期根治手术治愈.结论 单源化手术是治疗肺动脉闭锁合并室间隔缺损及重要主肺动脉侧支血管的有效方法,分期手术可取得良好的临床疗效.     

复杂先天性心脏病术后应用并成功脱离体外膜肺氧合一例

患儿,男,1岁8个月,体重9kg,因发现心脏杂音1周入院.患儿入院后明确诊断为复杂先天性心脏病(肺动脉闭锁、室间隔缺损、动脉导管未闭、卵圆孔未闭、主动脉瓣轻度关闭不全).经完善检查,于入院后第8天行肺动脉闭锁/室间隔缺损矫治术.术中见主动脉显著增宽,右冠状动脉窦瘤部明显扩张,主肺动脉0.8 cm,左肺动脉0.8 cm,右肺动脉1.0 cm,右心室显著增厚,腔内见粗大肌束,右室流出道狭窄,肺动脉瓣闭锁,干下型室间隔缺损2.0cm,主动脉骑跨70％.结扎动脉导管未闭(直径0.8 cm),切开右室流出道,连续缝合修补室间隔缺损,心包片重建右室流出道.术中主动脉阻断40 min,转流3.5h,术后停机困难,行体外膜肺氧合(extracorporeal membrane oxygenation,ECMO)辅助,延迟关胸回ICU.     

先天性右位心并复杂心血管畸形的超声诊断

目的观察超声心动图对先天性右位心合并复杂心血管畸形的诊断价值。方法以心血管造影结果为对照,应用超声心动图按节段分析法评价63例先天性右位心合并复杂心血管畸形患儿的心脏解剖结构。结果63例右位心患儿中镜像心28例,右旋心35例。超声心动图和心血管造影对心脏各节段诊断特异性有高度一致性,两方法相比较差异有统计学意义(P>0.05)。超声心动图对心房方位、心室形态、房室连接、心室动脉连接及主动脉位置诊断准确率均大于90%。镜像心大多各节段连接一致,可合并房间隔缺损、室间隔缺损等简单畸形(42.9%),也存在合并肺动脉狭窄的复杂心血管畸形(50%),主要为法洛四联症、右室双出口、单心室;右旋心大多各节段连接不一致,多合并肺动脉狭窄或闭锁的复杂畸形(88.6%)如单心室、右室双出口、大动脉转位、肺动脉闭锁等。结论超声心动图对先天性右位心合并复杂心血管畸形患儿大多能做出明确诊断,可作为右位心诊断的首选或筛选方法。     

新生儿期根治主动脉弓中断伴合并畸形

目的介绍新生儿围术期主动脉弓中断伴合并畸形的治疗经验。方法全组13例,年龄3～28d,平均体重3．5kg,伴发畸形有主肺动脉窗、有心室双出口Taussig—Bing畸形、右肺动脉起源于升主动脉、室间隔缺损、房间隔缺损、左室流出道梗阻、动脉导管未闭等。均一期行主动脉弓中断及伴发畸形根治术。结果手术死亡1例。随访中轻度吻合口梗阻1例。结论主动脉弓中断是一种少见的先天性心脏病,新生儿期死亡率高,一经发现须及时采取一期解剖根治手术。     

肺血减少型先天性心脏病合并粗大体肺侧支的诊治进展

肺血减少型先天性心脏病是以肺血流量减少为特征的先天性心脏病, 常见临床类型包括法洛四联症、肺动脉闭锁、右室双出口及伴有肺动脉狭窄的其他复合畸形。由于缺乏右心室来源的肺血供应, 肺血减少型先天性心脏病患儿常合并粗大体肺侧支(major aortopulmonary collateral arteries, MAPCAs)或动脉导管参与肺循环供血。研究发现MAPCAs是导致肺血减少型先天性心脏病外科根治术后机械通气时间及重症监护室滞留时间延长、并发症发生率及病死率增加的重要因素。因此, MAPCAs的围手术期治疗至关重要。该文总结了MAPCAs的分布与影响、诊断与评估及治疗方式的研究进展, 为临床医师规范处理MAPCAs提供参考。     

小于6个月先天性心脏病患儿的外科治疗

目的 回顾总结小于6个月婴幼儿先天性心脏病的外科治疗.方法 2000年1月～2006年12月,手术纠治年龄小于6个月先天性心脏病1831例.包括:室间隔缺损并肺动脉高压453例,完全性大动脉错位214例、法乐四联症119例、完全性肺静脉异位引流106例、右室双出口69例、肺动脉瓣狭窄65例,完全性房室通道55例、动脉导管未闭53例、主动脉缩窄伴室间隔缺损46例、肺动脉闭锁伴室间隔缺损36例、肺动脉闭锁室间隔完整型31例、主动脉弓中断24例、右室双出口伴肺动脉瓣下室间隔缺损22例、其他538例.根据不同病种采取相应的手术方法纠治.结果 手术死亡98例,手术死亡率5.35%.随着手术方法不断改进,手术总死亡率从2000年的8.23%降至2006年的4.91%.随访:完全性大动脉错位术后发生室间隔残余漏1例,肺动脉瓣上狭窄5例,主动脉瓣上狭窄2例,主动脉瓣下狭窄1例,其中再次手术4例,远期死亡1例;完全性肺静脉异位引流心内型4例在术后出现肺静脉回流梗阻,2例死亡,2例再次手术解除梗阻.早期室间隔缺损术后发生残余漏5例,分流量小,不需再次手术;其余病例随访不完整.结论 婴幼儿先天性心脏病的手术处理时间非常重要,危重复杂型先天性心脏病如不早期手术,将失去手术机会,增加术后危险性和死亡率.     

肺动脉闭锁合并室间隔缺损及大型主-肺侧支动脉术后的管理

伴室间隔缺损及大型主-肺动脉侧支血管的肺动脉闭锁(PA/VSD/MAPCAS)是一种较罕见的复杂先天性心血管畸形.采用何种手术方式治疗本症仍然是心脏外科医师面临的巨大难题.这也对术后的监护处理提出更高的要求.     

Diagnosis and treatment of pulmonary atresia and ventricular septal defect

Surgical repair of the intracardiac anatomy in patients with pulmonary atresia and ventricular septal defect can be performed today with a low operative mortality. Diagnostic and therapeutic problems in these patients are almost exclusively related to the nature of collateral lung perfusion and associated anomalies of the pulmonary vascular bed. These anomalies are frequently found in patients with major aortopulmonary collateral arteries and include multifocal pulmonary blood supply, hypoplasia, stenosis, or arborization anomalies of the pulmonary arteries. Diagnostic methods must focus on an exact identification of the collateral pulmonary blood supply, the presence and size of central pulmonary arteries, and the connections of the arterial segments. Recent genetic studies have shown that monosomy 22q11.2 is found in 25–32% of children with pulmonary atresia and ventricular septal defect. This microdeletion is significantly more frequent in patients with major aortopulmonary collateral arteries and it seems to be associated with a higher percentage of pulmonary arterial anomalies. During recent years, efforts have concentrated on earlier treatment of patients with pulmonary atresia with ventricular septal defect with combined catheter and surgical interventions. Early establishment of antegrade flow to the central pulmonary arteries stimulates growth of the pulmonary arteries, optimizes the angiographic diagnosis of abnormalities of the pulmonary vascular bed, and allows for the possibility of balloon angioplasty or stenting of the central pulmonary arteries.     

Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect

The purpose of our study was to describe the prevalence and the clinical spectrum of monosomy 22q11.2 in a population of patients with pulmonary atresia and ventricular septal defect. We examined all 44 patients with this conotruncal cardiac malformation who presented to our institution from January 1994 until December 1997. The type of collateral lung perfusion was recorded including anomalies of the pulmonary arteries as well as facial and immunological abnormalities. Molecular-cytogenetic testing for a 22q11.2 microdeletion was performed using the probes D22S75 and cHKAD26. Statistical differences were evaluated with the Fisher's Exact Test. Monosomy 22q11.2 was present in ten children (23%) with major aortopulmonary collateral arteries (group 1). The remaining 13 children (29%) with major aortopulmonary collateral arteries (group 2) and all 21 children (48%) with ductus arteriosus (group 3) were negative for this microdeletion. All children in group 1 had facial anomalies, six had mild immunological abnormalities including decreased CD 4+ or CD 8+ cells. Anomalies of the pulmonary vascular bed were significantly more frequent in children of group 1 (9/10) than in children of group 2 (4/13) or group 3 (0/21). Due to these pulmonary vascular anomalies, corrective surgery had been accomplished in fewer children with monosomy 22q11.2 (none in group 1) as compared to 7/13 children in group 2 and 14/21 children in group 3. Conclusion In children with pulmonary atresia and ventricular septal defect, monosomy 22q11.2 is preferentially associated with major aortopulmonary collateral arteries. Due to the higher incidence of pulmonary arterial abnormalities, successful surgical repair will require a different therapeutic approach in most patients with this microdeletion. Received: 3 June 1998 / Accepted in revised form: 11 September 1998     

圆锥动脉干畸形与染色体22q11.2微缺失之间的关系

染色体22q11.2微缺失综合征患儿中约80％合并有先天性心血管畸形.研究发现,染色体22q11.2区内基因(TBX1、CRKL、ERK2)参与染色体22q11.2微缺失的发生.合并染色体22q11.2微缺失最常见的心血管畸形是圆锥动脉干畸形,包括法洛四联症、室间隔缺损型肺动脉闭锁、永存动脉干以及主动脉弓中断.主要表型...     

Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies

Congenital heart disease (CHD) is one of the important groups of birth defects and contributes significantly to infant mortality. Extracardiac anomalies occur in 15-45% of cases with CHD. In this retrospective study, autopsies of cases born alive and diagnosed as CHD between 1977-2002 at Hacettepe University Ihsan Do?ramaci Children's Hospital, Pediatric Pathology Department, were investigated. In this period, a total of 3320 autopsies were performed and the incidence of CHD was 9.1%. The most commonly encountered CHD was ventricular septal defect (VSD) (15.3%). In 45.9% of cases, one or more extracardiac malformations were present. The most commonly encountered extracardiac malformation was craniofacial malformations. Less commonly seen were malformations of genitourinary, musculoskeletal, respiratory, gastrointestinal, central nervous systems and spleen anomalies. Ventricular septal defect, atrial septal defect (ASD), aortic coarctation, single ventricle, pulmonary stenosis, hypoplastic right heart syndrome, double outlet right ventricle, ASD+VSD, aortic arcus anomalies, and right and left atrial isomerism cases were often (>50%) accompanied by extracardiac malformations. No extracardiac malformations were detected accompanying pulmonary atresia with intact interventricular septum, Ebstein malformation, and mitral stenosis (MS). Spleen malformation was significantly high in cases with single ventricle (p<0.002). The anomalies of the gastrointestinal and genitourinary systems were found to be frequently associated with conotruncal heart defects (p<0.001). In the group with transposition of the great arteries, noncardiac malformations were present in only three cases (10%), differing from the rest of the material (p<0.001). In conclusion, when a heart malformation is detected in a patient, a detailed investigation should be done on extracardiac malformations or vice versa. Proper identification and treatment of CHD early in the prenatal period will save the family from the economic and emotional burden caused by having such a child with CHD.     

Unifocalization and repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries

AIM: To correlate anatomic and genetic features of paediatric patients with pulmonary atresia, ventricular septal defect (VSD) and multiple aortopulmonary collateral arteries with surgical outcome. METHODS: 44 consecutive patients aged 33 +/- 40 mo underwent either primary one-stage unifocalization (n = 32) or palliative right ventricular outflow tract reconstruction (n = 12) followed by secondary unifocalization and repair (n = 10) based on preoperative morphometric and functional evaluation of pulmonary blood sources. Chromosome 22q11.2 microdeletion occurred in 41% of cases. Combined VSD closure during one-stage procedures was guided by an intraoperative pulmonary flow study. Complete repair was accomplished in 35 cases (83%, 95% CI 72-95%). Variables examined included occurrence of confluent intrapericardial pulmonary arteries, central pulmonary arteries, confluent intraparenchymal pulmonary arteries, dominant collateral or pulmonary arteries, and chromosome 22q11.2 microdeletion. The sensitivity and specificity of the pulmonary flow study in predicting postoperative pulmonary haemodynamics were also tested. RESULTS: Eight-year actuarial survival and freedom from reoperation were 85% and 63%, respectively. Sensitivity and specificity of the pulmonary flow study were 94% and 100%, respectively. None of the anatomical variables examined was significantly related to the outcome of treatment. The only statistically relevant association was detected between survival and occurrence of 22q11.2 microdeletion (p < 0.003). Logistic analysis showed an increased likelihood of positive outcome in relation to first- (p < 0.02) or second-stage (p < 0.04) complete correction. CONCLUSION: Morphology of pulmonary blood supply has no major impact on surgical outcome. Pulmonary flow study is a highly specific and sensitive intraoperative test. Chromosome 22q11.2 microdeletion remains the only variable significantly affecting survival.     

Hypoplasia of the intrapulmonary arteries in children with right ventricular outflow tract obstruction,ventricular septal defect,and major aortopulmonary collateral arteries

Summary Postmortem injection studies have been carried out on the pulmonary vasculature of four children dying with pulmonary atresia and ventricular septal defect or severe tetralogy of Fallot with major aortopulmonary collateral arteries, in which nearly all bronchopulmonary segments had more than one source of blood supply. Despite regional variations in the source of blood supply, there was remarkable uniformity of arterial size and number within the respiratory unit throughout each case. In all cases, there was a normal number of arterial pathways, but both pre- and intraacinar arteries were considerably smaller than normal. The need for early operative intervention to ensure growth of pre- and particularly intraacinar arteries is emphasized.     

Unifocalization and repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries

Aim: To correlate anatomic and genetic features of paediatric patients with pulmonary atresia, ventricular septal defect (VSD) and multiple aortopulmonary collateral arteries with surgical outcome.
Methods: 44 consecutive patients aged 33±40 mo underwent either primary one-stage unifocalization ( n =32) or palliative right ventricular outflow tract reconstruction ( n =12) followed by secondary unifocalization and repair ( n =10) based on preoperative morphometric and functional evaluation of pulmonary blood sources. Chromosome 22q11.2 microdeletion occurred in 41% of cases. Combined VSD closure during one-stage procedures was guided by an intraoperative pulmonary flow study. Complete repair was accomplished in 35 cases (83%, 95% CI 72–95%). Variables examined included occurrence of confluent intrapericardial pulmonary arteries, central pulmonary arteries, confluent intraparenchymal pulmonary arteries, dominant collateral or pulmonary arteries, and chromosome 22q11.2 microdeletion. The sensitivity and specificity of the pulmonary flow study in predicting postoperative pulmonary haemodynamics were also tested.
Results: Eight-year actuarial survival and freedom from reoperation were 85% and 63%, respectively. Sensitivity and specificity of the pulmonary flow study were 94% and 100%, respectively. None of the anatomical variables examined was significantly related to the outcome of treatment. The only statistically relevant association was detected between survival and occurrence of 22q11.2 microdeletion ( p <0.003). Logistic analysis showed an increased likelihood of positive outcome in relation to first- ( p <0.02) or second-stage ( p <0.04) complete correction.
Conclusion: Morphology of pulmonary blood supply has no major impact on surgical outcome. Pulmonary flow study is a highly specific and sensitive intraoperative test. Chromosome 22q11.2 microdeletion remains the only variable significantly affecting survival.     

婴儿先天性心脏病1387例外科治疗结果分析

目的 回顾性分析我院近11年来外科治疗的≤6个月小婴儿先天性心脏病(先心病)1387例,探讨其病种、手术时机和治疗观念的变迁,以期进一步提高小婴儿先心病的就诊和救治率.方法 1997年1月至2007年12月,在我院行手术治疗的≤6个月先心病患儿1387例,主要病种包括:室间隔缺损合并肺动脉高压(VSD/PH)、法洛四联症(TOF)、完全性大动脉转位(TGA)、完全性肺静脉异位引流(TAPVC)、主动脉缩窄或主动脉弓中断合并室间隔缺损[CoA(IAA)/VSD]、右心室双出口(DORV)、合并室间隔缺损的肺动脉闭锁(PA/VSD)、室间隔完整的肺动脉闭锁(PA/IVS)等,根据病情采取相应的手术方法矫治,部分复杂型先心病进行了随访.结果 手术死亡110例,总手术死亡率7.9%.从历年手术治疗分析,手术死亡率1997至2003年为11.5%～14.4%,2004至2005年降至8.6%～&9%,2006至2007年降至3.3%～3.8%.对TGA、TAPVC、TOF、PA/VSD、PA/IVS患儿进行了随访,随访率分别为83.8%(98/117)、87.8%(79/90)、48.2%(68/141)、65%(13/20)和95%(19/20),随访期限为3～86个月.晚期死亡16例.随访中绝大多数患儿无症状,心功能和生长发育正常.结论 绝大部分早期出现症状的危重先心病可以在小婴儿期进行矫治,手术效果接近国际水平.不能进行一期矫治的可以先做姑息手术,改善缺氧、促进肺动脉发育,为以后的根治手术创造条件.     

Abnormal development of fourth aortic arch derivatives in the pathogenesis of tetralogy of Fallot

Summary Aortic arch (AoA) anomalies were studied in 233 patients with tetralogy of Fallot (TOF) of whom some had coexisting pulmonary atresia (PA). There was a 23% incidence of a right AoA in patients without PA, 21% in those with both PA and persistent ductus arteriosus (PDA), and 50% in those with PA and major aortopulmonary collateral arteries (MAPCAs). There was a 5% incidence of an aberrant subclavian artery in patients without PA and a 16% incidence in those with PA and MAPCAs. In this cohort an elongated ascending aorta was observed both with and without high aortic arch. These aortic arch anomalies were frequently associated with PA and MAPCAs.