A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis

We describe a female infant with bilateral facial paralysis and abducens palsy. To the best of our knowledge, this is the first report of Moebius syndrome presenting with congenital bilateral vocal cord paralysis (CBVCP). Although CBVCP can be part of a recognizable syndrome, i.e. Down syndrome, 22q deletion syndrome, Robinow’s syndrome and cerebro-oculo-facio-skeletal syndrome, no reports of Moebius syndrome with CBVCP were found in the literature. CBVCP is often associated with central nervous system abnormalities. However, our patient had no detectable brain abnormalities. The etiology of Moebius syndrome remains unknown. It is interesting that the clinical manifestations of Moebius syndrome can include CBVCP. However, the pathophysiology of CBVCP is unknown and further investigations into the etiology of Moebius syndrome are required.     

Obstructed total anomalous pulmonary venous connection

Summary With the advent of echocardiography, total anomalous pulmonary venous connection (TAPVC) can be readily diagnosed without much difficulty. However, noninvasive detection of the presence of pulmonary venous obstruction in TAPVC remains a difficult issue. During a 5.5-year period, 42 patients were found to have TAPVC by catheterization, surgery, and/or autopsy: 17 had supracardiac drainage, 13 paracardiac drainage, nine infracardiac drain-age, and three mixed drainage. Obstruction to pulmonary venous drainage was found in 24 patients (57%). Patients with right isomerism tended to have a higher incidence of pulmonary venous obstruction than those with the usual atrial arrangement (80% vs. 44%,p<0.05). Color Doppler combined with cross-sectional echocardiography provided accurate delineation of drainage sites in 93% cases (39 of 42). Among the 39 cases with correct echocardiographic delineation of the drainage site, obstruction was detected by echocardiography in 22 cases with a sensitivity of 100% (22 of 22) and a specificity of 85% (17 of 20). Therefore, complete echocardiography, including cross-sectional images and color Doppler proved to be a reliable tool in the detection of drainage sites and pulmonary venous obstruction in TAPVC.     

Double total anomalous pulmonary venous connection

We present a newborn infant with right atrial isomerism, complex congenital heart malformation and anomalous pulmonary venous connection, reliably diagnosed by 2-D Doppler color echocardiography. The infant had no significant obstetric antecedents. The neonatal clinical picture included cyanosis, heart murmur and respiratory distress. The infant was treated with prostaglandin from the age of 24 hours until his death after surgery. The 2-D echo Doppler color flow mapping showed findings that suggested right atrial isomerism, severe left ventricular hypoplasia, pulmonary atresia and ductus arteriosus. The pulmonary veins flowed together to a posterior cardiac chamber from which an emissary vertical venous vessel connected with a left superior aneurysmal sack. Two venous channels emerged from this sack: one connecting to the innominate vein and the other to the atrium. The malformations were confirmed by cardiac catheterization. On the sixth day of life, the patient underwent anastomosis between the posterior venous chamber with the atrium, a modified Blalock-Taussig shunt implant, and ductus closure but died during surgery. The association between complex cardiac anomalies and uncommon obstructive total anomalous pulmonary venous connection in the context of right atrial isomerism is lethal and few neonates survive surgical repair. Two-dimensional echo color flow Doppler is a reliable diagnostic technique and an indispensable guide in angiography.     

Fraser syndrome with partial anomalous pulmonary venous connection

Fraser syndrome is characterized by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. We report a case of a two day old neonate who presented with features suggestive of the diagnosis of Fraser syndrome. This child also had partial anomalous pulmonary venous connection and congenital hypo-thyroidism.     

Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings

We report on a family with asplenia syndrome in one and total anomalous pulmonary venous connection (TAPVC) in the other sib. Both conditions are rare, may have a genetic cause and belong to a spectrum of laterality disorders. This suggests that both asplenia syndrome and TAPVC in this family are the clinical expression of a single genetic disorder.     

完全性肺静脉异位连接的外科治疗

目的 总结10例完全性肺静脉异位连接的外科治疗经验。方法 全组均在全身麻醉中度低温体外循环下进行手术，6例心上型患儿早期1例经后径法矫治，其他5例中3例经右心房切口径路矫治；另2例采用心上法矫治；4例心内型1例采用自体心包片将冠状静脉窦口经扩大的房间隔缺损隔入左心房，后3例用5-0 Prolene线连续缝合房间隔粗糙边缘后再矫治。结果 无手术死亡，发生心律失常3例，一过性肺水肿2例，均经治疗痊愈。全组随访4个月～5年，心功能正常。结论 提高手术成功率和防止术后并发症的关键为：术中吻合口要足够大，扩大左心房容积及术后及时处理心律失常、肺水肿和低心排血量。心内型矫治时消除房间隔粗糙面可防止术后肺静脉梗阻。     

Surgical treatment of total anomalous pulmonary venous connection

Fourteen infants ranging in age from 18 days to 10 months (median age = 4 months) underwent surgical repair of total anomalous pulmonary venous connection (TAPVC) between September, 1988 and December, 1989. The anomalous drainage was supracardiac in nine, cardiac in two, infracardiac in one and mixed in one. One patient had a complex type of TAPVC. There were two hospital deaths, one a critically ill three week old infant with obstructed infracardiac TAPVC and the other with complex TAPVC. There was no late death. All twelve survivors are in NYHA functional Class 1. Postoperative echocardiography revealed unobstructed pulmonary blood flow in all of them. Surgical correction of TAPVC in infancy has been performed with gratifying results. A high index of suspicion, early diagnosis, prompt referral and an aggressive surgical approach are essential for success in this otherwise lethal condition.     

Functional total anomalous pulmonary venous connection via levoatriocardinal vein

We report a fetal case of double outlet right ventricle, mitral atresia, and intact atrial septum. Although the pulmonary veins were connected to the left atrium, pulmonary venous blood drained into the right superior vena cava via the stenotic levoatriocardinal vein (LACV), which resulted in a circulation resembling total anomalous pulmonary venous connection (TAPVC) with pulmonary venous obstruction. Since the pulmonary veins were connected to both the stenotic LACV and the “dead‐end” left atrium, the pulmonary venous flow had a to‐and‐fro pattern along with atrial relaxation and contraction. Postnatal echocardiography and computed tomography confirmed the diagnosis of normally connected but anomalously draining pulmonary veins via the LACV. Surgical creation of an atrial septal defect on the day of birth successfully relieved pulmonary venous obstruction. Normally connected but anomalously draining pulmonary veins via the LACV should be considered for TAPVC differential diagnosis in fetuses with a left‐side heart obstruction.     

小儿完全性肺静脉畸形引流的外科治疗

目的　评判完全性肺静脉畸形引流早期手术矫治的疗效及心上型完全性肺静脉畸形引流各种吻合方法的优缺点。方法　 1976～ 1999年共收治完全性肺静脉畸形引流 14 0例 (男 81,女5 9) ,平均年龄 ( 7.13± 6.88)岁。心上型 87例 ( 62 .14 % ) ,心内型 4 4例 ( 3 1.4 3 % ) ,心下型 2例( 1.4 3 % ) ,混合型 7例 ( 5 % )。 2例经右心导管检查证实为重度肺动脉高压 ,未能实施矫治手术 ,余患儿均在全麻、低温、体外循环下行矫治术。心上型的吻合方法包括 :心外法 ( 2 1例 ) ,经上腔静脉与升主动脉间吻合法 ( 3例 ) ,经房间隔缺损吻合法 ( 18例 ) ,心外吻合加经房缺吻合 ( 2例 ) ,经左右心房联合切口吻合法 ( 4 3例 )。结果　术后早期 ( 3 0d)死亡 14例 ( 10 % ) ,其中 3例合并其他复杂的心内畸形 ,均死亡 ,故单纯TAPVC的手术死亡 11例 ,死亡率为 8.0 3 % ( 11/ 13 7)。术后主要并发症为心律失常 60例 ( 4 2 .86% )。结论　完全性肺静脉畸形引流宜尽早手术 ,心上型矫治术吻合口足够大是保证手术成功的关键 ,左右房联合切口入路可确保吻合口足够大 ,但心律失常发生率高 ,经上腔静脉与升主动脉间吻合法可减少心房损伤 ,降低心律失常发生率。     

Unusual form of total anomalous pulmonary venous connection with double drainage

A patient with complex congenital heart disease was diagnosed by two-dimensional echocardiography. Total anomalous pulmonary venous connection (TAPVC) was suspected because of the results of two-dimensional echocardiography, but the exact anatomy was delineated by cineangiocardiography as an unusual form of TAPVC with double drainage or connections to the left superior vena cava at nearly the same level. The clinical implications and possible embryogenesis for such a condition are discussed.     

Total anomalous pulmonary venous connection

Ten cases of total anomalous pulmonary venous connection, all presenting at or below the age of eight weeks, are presented: three below the diaphragm, two to the coronary sinus, one to the right atrium, three to the left vertical vein, and one to the right superior vena cava. Six patients had other cardiac anomalies, and surgical mortality represented 75%. A review of the subject is presented.     

采用左心房顶部进路纠治心上型完全性肺静脉异位连接

目的　评估经左房顶部进路方法纠治心上型完全性肺静脉异位连接。方法　 2 0 0 1年11月至 2 0 0 3年 1月 ,采用经左房顶部进路方法纠治心上型完全性肺静脉异位连接 16例。年龄 (2 3d～ 4岁 ) ,其中 6个月以下 8例 ,占 5 0 .0 % ;平均体重 (8.5± 4 .94 )kg ,10kg以下共 11例 ,占全组6 8.7%。结果　纠治心上型完全性肺静脉异位连接 16例 ,无死亡。其中 1例术后吻合口狭窄 ,第 2d再次手术 ,肺静脉回流通畅 ,康复出院。 1例婴儿术后做膈肌折叠术。 2例新生儿术后延迟关胸。术后随访 3～ 16个月 ,所有患儿生长发育良好 ,胸片示心影较术前明显缩小 ,肺充血消失 ,心电图示窦性节律 ,无一例出现肺静脉回流梗阻。结论　采用经左房顶部进路方法纠治心上型完全性肺静脉异位连接 ,取得较好效果。手术成功取决于左房与汇总静脉的吻合口大小 ,保证肺静脉回流无梗阻。     

影响完全性肺静脉异位引流术病死率的危险因素

目的 分析完全性肺静脉异位引流(TAPVC)纠治术的手术结果,探讨影响其病死率的危险因素.方法 对比分析郑州大学第三附属医院河南省小儿先心病诊疗中心2001年9月至2011年9月收集的TAPVC患儿临床资料.其中男37例,女20例;年龄15 d～6.5岁[(4.27±8.63)个月];体质量4.0 ～21.0(6.33 ±2.70) kg.收集患儿住院病历、超声心动图和手术记录等资料.应用x2检验和Logistic多变量回归分析对患者的手术年龄、体质量、TAPVC分型、术前急症、主动脉钳夹时间、手术时间、体外循环时间及术后呼吸机辅助时间、监护时间、住院时间等因素进行分析,分析影响病死率的危险因素.结果 57例TAPVC患儿纠治术中,围手术期死亡7例(12.2％).单变量分析结果表明,与TAPVC纠治术病死率相关的因素有体质量(P =0.035)、TAPVC分型(P=0.037)、术前急症(P=0.021)、主动脉钳夹时间(P =0.046).Logistic多变量回归分析结果表明,术前急症是影响TAPVC纠治术病死率的独立危险因素(P =0.003).结论 TAPVC患儿术前急症会增加患儿术后的病死率.     

完全型肺静脉异位引流胎儿超声肺静脉频谱特征

目的 探讨胎儿完全型肺静脉异位引流(TAPVC)的肺静脉频谱特征表现.方法 回顾性分析2017年2月至2021年6月经山东省潍坊市妇幼保健院产前超声心动图诊断的TAPVC胎儿的肺静脉频谱表现,总结不同类型TAPVC肺静脉的频谱特征.结果 共诊断19例TAPVC(11例单纯型,8例复合型)胎儿,其中心上型11例,心内型和...     

Post-op systemic hypertensive crises in an infant with total anomalous pulmonary venous connection

Systemic hypertension is not usually a complication following repair of total anomalous pulmonary venous connection (TAPVC). We report an infant with supracardiac TAPVC with hypertensive crises post-operatively resulting in pulmonary edema. We feel this might have been related to the pre-operative hemodynamics as described. Beta-blockers improved the hypertensive crises.     

Supracardiac type total anomalous pulmonary venous connection (TAPVC) with oesophageal varices

Oesophageal varices due to total anomalous pulmonary venous connection (TAPVC) is very rare. Additionally, the infradiaphragmatic type is the most common type of oesophageal varices due to TAPVC. Paraoesophageal varices due to stenosis of the vertical vein of supracardiac TAPVC has not previously been reported. We describe paraoesophageal varices developed as a result of a connection between the left lower pulmonary vein and the umbilicovitelline venous system because of stenosis of the proximal vertical vein in supracardiac type TAPVC in a 3-day-old female newborn who presented with general cyanosis, tachypnoea and dyspnoea.     

新生儿及婴儿完全型肺静脉异位引流的外科治疗

目的　回顾性探讨新生儿及婴儿完全型肺静脉异位引流 (TAPVC)的早期外科手术效果。方法　 2 0 0 1年 3月～ 2 0 0 3年 4月 ,共收治 8kg以下完全型肺静脉异位引流患儿 13例 ,男 11例 ,女 2例。体重 (3.5～ 8)kg ,平均体重 (5 .0 3± 1.15 )kg。年龄 2 0d～ 11个月 ,平均年龄 (3.73± 3.30 )个月。心上型 6例 (4 6 .15 % 6 /13) ,心内型 4例 (30 .77% 4 /13) ,心下型 2例 (15 .38% 2 /13) ,混合型 1例 (7.6 9% 1/13)。所有患儿均在全麻低温体外循环下行矫治术。结果　术后早期死亡 2例(15 .38% ) ,均为心上型 ,2例心下型全部存活 ,随访 9例 ,时间为 2个月～ 2年 ,心功能均良好。结论　完全型肺静脉异位引流早期矫治效果良好 ,心下型肺静脉异位引流一旦确诊应急诊手术 ,不增加手术死亡率。     

单纯性完全型肺静脉异位引流产前8例超声心动图诊断

摘要 目的 探讨胎儿单纯性完全型肺静脉异位引流（TAPVC）的产前超声心动图特点,提高对本病的产前诊断准确率。方法 回顾性分析2011年5月至2014年2月经新生儿超声心动图、手术或尸解证实的8例单纯性TAPVC的胎儿期超声心动图检查结果,总结超声心动图特征。结果 8例单纯性TAPVC胎儿中,心下型2例,心内型1例,心上型5例,5例存在垂直静脉或共同肺静脉腔与垂直静脉连接处梗阻;8例胎儿中,引产1例（心下型）,余7例均于出生后行手术治疗,其中1例术后死亡（心下型）,6例均恢复良好。TAPVC胎儿超声心动图特征为：①正常的左心房形态消失,呈圆形或椭圆形,左心房光滑并多变小,在孕后期较为明显;②降主动脉与左心房间距离明显增大,多数在左心房后方可见一异常的腔隙（即共同肺静脉腔）,可显示左、右侧上升（心上型）或下降（心下型）的垂直静脉;③妊娠早期左、右心系统比值早期多正常,但妊娠中、晚期（孕26周后）可出现右心系统轻度扩大;④引流入冠状静脉窦时（心内型）,冠状静脉窦可有扩张;引流入上腔静脉时（心上型）,上腔静脉扩张;引流入肝内血管时（心下型）,肝内血管可有不同程度的扩张;⑤彩色多普勒可显示引流途径及是否合并垂直静脉梗阻。结论 在孕早期左、右心系统比值正常时,TAPVC易被漏诊及误诊,应注意多角度、多切面扫查,孕晚期超声心动图检查可减少漏诊。     

Integrated management during the perinatal period for total anomalous pulmonary venous connection北大核心CSCD

Objective To evaluate the clinical effectiveness of integrated management during the perinatal period for fetuses diagnosed with total anomalous pulmonary venous connection (TAPVC) by prenatal echocardiography. Methods Clinical data of 64 cases of TAPVC fetuses diagnosed by prenatal echocardiography and managed with integrated perinatal care in Qingdao Women and Children's Hospital from January 2017 to December 2021 were retrospectively analyzed. Integrated perinatal care included multidisciplinary collaboration among obstetrics, fetal medicine, ultrasound, pediatric cardiology, pediatric anesthesia, and neonatology. Results Among the 64 TAPVC fetuses, there were 29 cases of supracardiac type, 27 cases of intracardiac type, 2 cases of infracardiac type, and 6 cases of mixed type. Chromosomal analysis was performed in 42 cases, and no obvious abnormalities were found. Among the 64 TAPVC fetuses, 37 were induced labor, and 27 were followed up until term birth. Among the 27 TAPVC cases, 2 cases accepted palliative care, 2 cases were referred to another hospital for treatment and lost to follow-up, while the remaining 23 cases underwent primary repair surgery. One case died within 6 months after the operation due to low cardiac output syndrome, while the other 22 cases were followed up for (2.1±0.3) years with good outcomes (2 cases underwent a second surgery within 1 year after the first operation due to anastomotic stenosis or pulmonary vein stenosis). Conclusions TAPVC fetuses can achieve good outcomes with integrated management during the perinatal period. © 2023 Xiangya Hospital of CSU. All rights reserved.