永存动脉干的病理分型和临床诊断：附20例报告

为探讨永存动脉干（ＰＴＡ）的病理分型与临床诊断及其相关性。于１９８５年１月～１９９８年１０月经超声心动图、心导管和心血管造影检查诊断ＰＴＡ２０例,按照Ｖａｎ Ｐｒａａｇｈ分型法分型。结果：Ⅰ型８例,Ⅱ型５例,Ⅲ型６例,Ⅳ型１例,都伴有室间隔缺损。动脉干均为三瓣,有４例工关闭不全。肺动脉压力／主动脉压力为０．８５～１．０。结论：明确ＰＴＡ的病理的类型和了解肺血管的阻力对外科手术 发重要诊断凡要领事超     

新生儿永存动脉干1例

患儿 ,男 ,57ｈ ,因“全身皮肤发灰 ,呻吟样呼吸2 0ｍｉｎ”由产科转入。系第 3胎第 1产 ,孕 4 1+2 周 ,因“胎儿宫内窘迫”剖宫产 ,出生体重 2 950 ｇ ,Ａｐｇａｒ评分 1分钟及 5分钟均为 10分 ,羊水Ⅲ°污染。查体 :Ｔ 36℃ ,Ｒ 80次 /ｍｉｎ ,刺激无反应 ,全身皮肤苍白发灰、下腹部散在数个出血点 ,指压皮肤充盈 >3ｓ,前囟平坦 ,双目凝视 ,瞳孔等大等圆 ,对光反应迟钝。唇绀 ,鼻扇 ,两肺呼吸音粗 ,心率 140次 /ｍｉｎ ,心音有力、无杂音。肝右肋下 4ｃｍ ,质中 ,脾未及 ,四肢瘫软 ,肢端厥冷 ,原始反应消失。辅检 :血ＷＢＣ12 .3× 10 9/…     

新生儿永存动脉干伴单心室一例

永存动脉干（persistent truncus arteriosus，PTA）是极为罕见的复杂先天性心血管畸形，发病率约0．5％～1％左右，约占婴儿先天性心脏病的0．4％。在先天性心血管的尸解中约占1％-3％，分娩活婴者约3／10000，是围产儿死亡的原因之一。由于严重的病例在宫内可能难以存活到分娩以及超声诊断学的发展，活产婴幼儿永存动脉干非常罕见。其中约1／4病例合并有单心室。现将临床所见一例新生儿永存动脉干合并单心室，共同房室瓣，房间隔缺损（多孔型）病例报道如下。     

新生儿单心室伴永存动脉干1例

1 病史患儿,男,6 d,因“少吃、少动2 d,呻吟1 d”入院。母亲系G1P1,患儿胎龄38 6周,于2005年8月30日剖宫产分娩,Apgar评分1 min内8-9分,5 min内10分,脐带绕颈1 周,羊水、胎盘无异常,无窒息抢救史,出生体重3 100 g。母亲在孕早期曾有病毒感染,口服阿莫西林胶囊1-2粒。父母非近亲婚配,无家族遗传性疾病史。入院查体:反应     

圆锥动脉干畸形的三维超声病理形态学诊断的研究

目的探讨三维超声心动图（3DE）在小儿圆锥动脉干畸形（CTD）病理形态学诊断中的应用价值。方法用HP Sonos 5500型彩色超声心动图仪和Tom Tec Echo-view 4．2对210例0～15岁CTD患儿进行二维超声心动图（2DE）和3DE检查,并以心导管造影和手术诊断为标准,用5剖切面10剖视面三维超声剖视诊断方案和Van Praagh先天性心脏病顺序分段诊断步骤对CTD作3DE剖视诊断,结果与2DE对比。结果房、室间隔左、右心观（L1a、L2a）、心脏四腔观（Ha、Hb）、瓣膜俯视及仰视观（sla、S2a）等剖视面对CTD有诊断价值,在心室构型,心室大动脉连接,室间隔缺损具体位置、形态及其与大动脉相互关系等方面能较2DE提供更多空间信息。在已手术的147例中,补充2DE诊断18例（12．2％）,纠正2DE诊断10例（6．8％）。结论3DE可对CTD作出较准确的三维病理形态学诊断,能基本满足CTD 3DE剖视诊断要求。     

永存左上腔静脉50例临床分析

永存左上腔静脉是较常见的腔静脉畸形,常合并其他心血管畸形。术前明确诊断,对先天性心脏病(以下简称先心病)心内直视手术处理有重要意义。本文报道我院儿科1983年9月～1988年12月经心导管检查证实的永存左上腔静脉50例,分析无创性诊断方法的价值。     

永存动脉干合并单心室 右旋心 房间隔缺损1例

患儿，女，6d，因生后颜面四肢发绀6d，加重伴反应差半天急诊入院；系1胎1产，足月顺产于当地诊所，出生体重2800g，产程、脐带、胎盘、羊水等情况不详，生后即哭，不久发现颜面四肢紫绀，哭闹时加重，但反应可、哭声大、食奶好，无咳嗽、呼吸困难及呛奶，无发热及抽搐等；于入院当天出现反应差、不吃、不哭、颜面四肢发绀加重，遂来就诊，门诊以“新生儿肺炎”、[第一段]     

单纯性圆锥动脉干畸形22q11.2微缺失发生率及临床表型研究

目的 探讨单纯性圆锥动脉干畸形(CTD)染色体22q11.2微缺失发生率及临床表型分析.方法 应用多重连接探针扩增法(MLPA)对77例0～10岁单纯性CTD患儿进行染色体22q11.2微缺失筛查,并对阳性样本进行荧光原位杂交(FISH)验证.采用Fisher精度检验,P＜0.05有统计学意义.结果 用MLPA对77例单纯性CTD患儿进行了22号染色体微缺失筛查,其中55例法乐四联症(TOF),4例肺动脉闭锁伴室间隔缺损(PA-VSD),8例右室双出口(DORV),10例大动脉转位(TGA).6例(7.8%)患儿存在染色体22q 11.2微缺失,其中4例为TOF,1例为PA-VSD,1例为DORV;10例TGA患儿中均未发现22q11.2缺失.结论 单纯性CTD染色体22q 11.2微缺失发生率约为7.8%.单纯性CTD患儿中,PA-VSD,DORV及TOF比TGA更易发生染色体22q11.2微缺失.应加强对单纯性CTD患儿的遗传筛查及咨询.     

TBX1启动子区核苷酸变异与心脏圆锥动脉干畸形相关性研究

目的验证TBX1启动子区核苷酸变异与心脏圆锥动脉干畸形的相关性。方法招募621例心脏圆锥动脉干畸形患儿,采用MLPA方法检测患儿22q11.2区基因组DNA的拷贝数,排除22q11.2微缺失患儿。对605例无22q11.2微缺失的心脏圆锥动脉干畸形患儿和588例正常对照儿童,采用PCR扩增和基因测序方法,进行TBX1启动子区序列分析(-2000..+1),并应用生物信息学软件对变异位点进行功能预测分析。结果心脏圆锥动脉干畸形患儿中发现存在TBX1基因启动子区位点变异,其中包括3个已报道的单核苷酸多态性(SNP)和7个罕见变异位点,突变的发生率约为1.7%。应用Ali Baba 2.1对7个罕见变异位点进行分析,显示其中3个位点可能影响相关反式作用因子与TBX1启动子区顺式作用元件的结合。结论 TBX1启动子区核苷酸变异可能与心脏圆锥动脉干畸形发生相关。     

272例动脉干下型室间隔缺损临床分析

目的 了解动脉干下型室间隔缺损（简称干下室缺）的临床过程，恰当掌握手术适应证。方法 总结经手术证实的14岁以下儿童干下室缺272例，观察年龄与肺动脉高压和主动脉瓣病变（主动脉瓣关闭不全、主动脉瓣脱垂、主动脉脉窦瘤破裂）；室缺大小与肺动脉高压、主动脉瓣病变的关系。结果 （1）272例经胸超声心动图检出干下室缺246例，符合率90．4％。（2）随着年龄的增长，合并肺动脉高压的几率减少，程序减轻。年龄小于1岁，肺动脉高压发生率为70％。7－14岁为28％。（3）随着年龄的增长，合并主动脉瓣病变有增长趋势，但差异无显著性，7－14岁出现主动脉瓣病变38．7％。（4）随着干下室缺的增大，发生肺动脉高压的几率、严重程度显著增加，干下室缺大于10mm，肺动脉高压发生率达52．3％以上。（5）随着干下室缺的增大合并主动脉瓣病变的发生率差异显著性。（6）手术方式以补片修补者267例（98．2％），直接缝合5例，手术治愈（98．2％）、死亡15例（1．8％），结论 干下室缺因其解剖特点吸血流动力学特点，无自然闭合倾向，且易合并严重并发症，因此该型室缺一经诊断即应早期手术。     

Associated occurrence of persistent truncus arteriosus and asplenia

Summary An infant with persistent truncus arteriosus associated with splenic agenesis and the asplenia syndrome is reported, including clinical, echocardiographic and autopsy findings. To the authors' knowledge this association has not been previously reported.     

Echocardiographic - angiocardiographic correlation in persistent truncus arteriosus

Four cases of persistent truncus arteriosus (PTA) type 1 are presented where echocardiography was helpful in making the diagnosis. The diagnosis was later confirmed by cardiac catheterisation and angiocardiography.     

Left ventricular thrombus following repair of truncus arterosus

Summary A 6-month-old infant developed a left ventricular thrombus in association with low antithrombin-III activity following the repair of a truncus arteriosus.Conservative management was associated with spontaneous resolution of the clot. The significance of this association is discussed.     

Participation of Neural Crest Cells in Cardiovascular Morphogenesis of Chick Embryos

Neural crest cells appear on top of the neural folds at closure of the neural tube. These cells are capable of migrating and differentiating into multiple tissues. In 1983, Kirby et al., using chimera methodology, reported that cranial neural crest cells participated in aorticopulmonary and truncal septation. Since that time, many experimental studies have been done in this field. In this paper, we report new experimental findings and review four areas of study on neural crest cells, i.e. their general characteristics, participation of neural crest cells in formation of the normal heart, cardiovascular anomalies due to ablation of the neural crest cells, and the relationship between neural crest cells and congenital malformation syndromes, especially the DiGeorge sequence.     

Pathogenesis of Persistent Truncus Arteriosus Produced by Bis-Diamine in Rats

The influence of bis-diamine on truncoconal septation was studied by the administration of 200 mg of this drug to pregnant Donryu-strain rats on day 10 of gestation. Fetuses were removed at nine time periods from day 11 to 15. Some hearts were observed under a scanning electron microscope; others were serially sectioned and observed by light microscopy. In the treated group, the aorticopulmonary septum and the 6th aortic arch artery were hypoplastic or aplastic. Truncal swellings and conal ridges showed hypoplasia and failure to fuse. Various types of persistent truncus arteriosus were found in association with the degree of development of the 6th aortic arch artery and the aorticopulmonary septum. Fused 6th aortic arch arteries corresponded to Collett and Edwards' persistent truncus arteriosus type II, and non-fused arteries to type III. Aplastic arteries belonged to type IV or were unclassifiable.     

A Case of Anomalous Origin of the Pulmonary Arteries: Right Pulmonary Artery from the Descending Aorta and the Left Pulmonary Artery from the Ascending Aorta

A 3-month-old girl classified as having persistant truncus arteriosus underwent surgical correction of the anomalous origin of the pulmonary arteries; the right pulmonary artery from the descending aorta and the left pulmonary artery from the ascending aorta. The patient died on the fourth postoperative day. The definite diagnosis and choice of surgical strategies should be further examined.     

小儿先天性肺腺瘤样畸形的诊断及外科治疗

目的 总结小儿先天性肺腺瘤样畸形(CPAM)诊治经验.方法 回顾2006年11月至2009年11月手术的13例CPAM临床资料,男6例,女7例,手术年龄50d至13岁.多数患儿有临床症状,经胸部X线和CT检查确诊.3例小于2个月者急诊手术,其余患儿择期手术.术式有单肺叶切除10例,肺叶+不规则肺段切除2例,囊肿剥离术1例.病理示Ⅰ型8例,Ⅱ型和Ⅲ型各2例,Ⅳ型1例.结果 无手术死亡.2例术后早期出现支气管胸膜瘘,1例经保守治疗,1例在胸腔镜下瘘口缝合后治愈.术后平均住院9.7 d,平均随访12.3个月,2例肺叶+不规则肺段切除者活动量轻度受限,其余患儿恢复良好.结论 胎儿超声是CPAM产前诊断的主要手段,胸部CT检查对产后诊断有高度特异性.     

Unexpected diagnosis of superficial neurofibroma in a lesion with imaging features of a vascular malformation

Plexiform neurofibroma is a pathognomonic, often disabling feature of neurofibromatosis type I. Although the target-like appearance of deep plexiform neurofibroma on T2-weighted MRI has been well-described, a second superficial form of plexiform neurofibroma has differing imaging features. We report a 15-year-old boy who presented with multiple cutaneous lesions exhibiting clinical and imaging characteristics of a venolymphatic malformation. These lesions were histologically proved to represent superficial plexiform neurofibromas. We wish to emphasize the unique MR findings of superficial plexiform neurofibromas; these findings are different from the imaging characteristics of the deep form and can be confused with a low-flow vascular malformation.     

Anomalous left coronary artery from the main pulmonary trunk: Physiologic and clinical importance of its association with persistent ductus arteriosus

Summary Anomalous left coronary artery (ALCA) from the pulmonary trunk presents in early infancy with a clinical picture of failure to thrive, congestive heart failure (CHF), anginalike episodes, and mitral insufficiency. These manifestations which are due to myocardial ischemia may change in the presence of an associated lesion. We present a case and review two previous reports of a patent ductus arteriosus (PDA) associated with this anomaly. Although signs and symptoms are not as clear due to the less impaired coronary perfusion and the presence of a PDA, the presence of mitral insufficiency should raise the possibility of an anomalous coronary artery and, therefore, a cardiac catheterization and angiocardiography are recommended in anticipation of reparative surgery.