Surgical treatment for infra-cardiac total anomalous pulmonary venous drainage and early-mid follow-up results in 17 cases

Objective To evaluate effectiveness of urgent surgical correction for infra cardiac total anomalous pulmonary venous drainage (TAPVD) in infants and children. Methods From July 2000 to April 2009,seventeen patients with infra-cardiac type of total anomalous pulmonary venous connection received surgical correction

Echocardiographic Diagnosis of Total Anomalous Pulmonary Venous Connection

To investigate the value of echocardiography in the diagnosis of total anomalous pulmonary venous connection ( TAPVC ), 16 patients in our hospital were diagnosed to have TAPVC by echocardiography from year 1994 to 2001. In 11 cases the results of echocardiography were compared to those of surgery. Each patient was examined by using a combination of precordial, suprasternal and subcostal windows to visualize all the pulmonary veins and their drainage sites, common pulmonary venous trunk, and other associated abnormalities. Of the 16 cases, the drainage sites were as follow: supracardiac in 10, via vertical vein in 9, directly to superior vena cava in 1; cardiac in 5, via coronary sinus in 2, directly to right atrium in 3. Diagnoses were correctly made in all the 11 cases as confirmed by surgery. Echocardiography can also assess pulmonary arterial pressure and detect other associated abnormalities. It is concluded that echocardiography is the preferred examination method in the diagnosis of TAPVC before surgery. With careful examination using multiple windows and sections, TAPVC can be accurately diagnosed by echocardiography.

Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas:A case report

BACKGROUND Alagille syndrome(ALGS)is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene.It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems,such as the cardiovascular,skeletal,and urinary systems.CASE SUMMARY We report a rare case of ALGS.A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease:Total anomalous pulmonary venous connection(TAPVC).Sustained jaundice,particularly with cardiac murmur,caught our attention.Laboratory tests revealed elevated levels of alanine aminotransferase,aspartate aminotransferase,gamma-glutamyl transpeptidase,total bilirubin,and total bile acids,indicating serious intrahepatic cholestasis.Imaging confirmed the presence of butterfly vertebra at the seventh thoracic vertebra.This suggested ALGS,which was confirmed by genetic testing with a c.3197dupC mutation in the JAG1 gene.Ursodiol was administered immediately after confirmation of the diagnosis,and cardiac surgery was performed when the patient was 1.5 month old.He recovered well after treatment and was discharged at the age of 3 mo.At the age of two years,the patient returned to our clinic because multiple cutaneous nodules with xanthomas appeared,and their size and number increased over time.CONCLUSION We report a unique case of ALGS associated with TAPVC and severe xanthomas.This study has enriched the clinical manifestations of ALGS and emphasized the association between JAG1 gene and TAPVC.

Coronary Sinus Atrial Septal Defect (Unroofed Coronary Sinus) with Total Anomalous Pulmonary Venous Connection—A Case Report

Introduction: To present a rare occurrence of coronary sinus atrial septal defect (ASD) associated with total anomalous pulmonary venous connection (TAPVC). Case Report: A 16-year-old girl was diagnosed with features of an atrial septal defect (ASD) by transthoracic echocardiography and the absence of PLSVC (persistent left superior vena cava) connection to coronary sinus was confirmed by saline contrast echocardiography (“bubble study”). Discussion: The cause of the dilated coronary sinus was due to total anomalous pulmonary venous connection. Conclusion: Coronary sinus atrial septal defect (ASD) is a rare interatrial shunt that is commonly associated with a persistent left superior vena cava (PLSVC) and occurs in less than 1% of cases of ASDs. It is characterized by the absence of at least a portion of the common wall that separates the coronary sinus and left atrium. Isolated defects are associated with low rate of morbidity and mortality.

Long-Term Outcomes of Systemic-to-Pulmonary Artery Shunt in Patients with Functional Single Ventricle and Heterotaxy Syndrome

Objectives: We sought to determine the long-term outcomes and mortality-associated factors after systemic-topulmonaryartery shunt (SPS) in patients with heterotaxy syndrome. Methods: We retrospectively analyzed allpatients with a functional single ventricle and heterotaxy syndrome who underwent SPS at our center from January2001 to April 2022. Results: This study involved 84 patients. Restrictive pulmonary blood flow requiringearly modulation was presented in 34 (40%) patients. Compared with patients without restrictive pulmonaryblood flow (N = 50 [60%]), the postnatal survival of these 34 patients was significantly lower at 10 years (log rank:p = 0.04), but the statistical significance disappeared at 20 years (log rank: p = 0.18). Among 31 patients whounderwent SPS, 11 (35%) had extracardiac total anomalous pulmonary venous connection (TAPVC). The survivalrate after SPS was 80% at 10 years. Cox regression analysis showed that extracardiac TAPVC (hazard ratio6.44, 95% confidence interval 1.23–33.7, p = 0.03) and pulmonary venous obstruction (PVO) at TAPVC repair(hazard ratio 11.2, 95% confidence interval 2.13–58.5, p = 0.004) were significantly associated with death. In25 patients who underwent bidirectional cavopulmonary shunt (BCPS), surgical interventions on the pulmonaryartery (PA) were performed after SPS in 7 of 9 patients with PA coarctation, 3 of 4 with non-confluent PAs, and4 of 12 with normal PAs. At SPS, primary central PA plasty was performed in three patients with PA coarctationand 2 with non-confluent PAs. There was no significant difference in the PA index before BCPS between patientswith and without primary central PA plasty (p = 0.49). Among 20 patients who underwent total cavopulmonaryconnection (TCPC), adverse events occurred in 7 (35%) patients, including death in 1 (5%), intervention for pulmonaryarteriovenous malformation (PAVM) in 3 (15%), and surgical intervention for PVO in 3 (15%). TheB-type natriuretic peptide concentration was significantly higher in patients with than without adverse events(p = 0.02). The adverse event-free survival rate after TCPC was 69% at 10 years. Conclusion: ExtracardiacTAPVC and PVO at TAPVC repair were significantly associated with death after SPS in patients who had heterotaxysyndrome with a single ventricle. Surgical interventions on the PA were frequently required after SPS inpatients with PA coarctation or non-confluent PAs. Although satisfactory survival was achievable after TCPC,late-onset PAVM and PVO remain concerns.

产时手术矫治危重先天性心脏病1例

危重先天性心脏病(先心病)患儿生后即面临生命危险,一旦病情恶化,预后极差。针对这种术后危重状态可能导致的严重不良后果,在1例入住首都医科大学附属北京安贞医院的胎儿心脏结构异常孕妇的诊疗中我们首次选择新生儿娩出后即启动手术的多学科救治模式,来规避术前的高风险。母孕期胎儿诊断为完全型肺静脉异位引流,于本院经剖宫产娩出胎儿后,立即转入心脏手术室,明确诊断,完成必要术前检查后开始麻醉,完成手术矫治,手术过程、术后恢复顺利。该救治模式通过新生儿娩出后即刻的早期手术有望改善危重先心病患儿的预后,降低死亡率,提高远期健康水平。

完全型肺静脉异位引流外科矫治术后垂直静脉-左心房残余分流介入治疗2例并文献复习

完全型肺静脉异位引流(TAPVC)是指肺静脉未能直接与左心房连接而均与右心房或体静脉系统连接的先天性心血管畸形。一旦发现,即有手术指征,通常需要行外科矫治术以重建其血管连接,恢复正常的血液循环。在TAPVC中,由于左心系统缺少正常的血液来源,因此左心房室发育不良(心腔容积明显缩小、顺应性减低),若又合并肺静脉梗阻,结扎垂直静脉(肺静脉常经此血管与体静脉系统连接)后易引起肺动脉高压危象和急性心力衰竭。因此,术者有时会保持垂直静脉开放,使其在术后循环中充当“减压阀”,以减少围手术期肺动脉高压危象。在大多数情况下,随着人体对重建的血液循环的适应,未结扎的垂直静脉会自发关闭;然而在少数情况下,它们会保持开放状态,导致大量左向右分流和右心扩张,需要随后对其进行手术结扎或介入封堵。这种病例非常少见,仅限于病例报道。在此,我们报道了2例效果良好的TAPVC矫治术后垂直静脉残余分流的介入封堵并对相关文献进行了系统复习。

超声下左心房后空间距离对胎儿完全性肺静脉异位引流的诊断价值

目的探讨超声检测左房后空间距离对胎儿完全性肺静脉异位引流(TAPVC)的诊断价值。方法选取2020年3月至2021年8月于医院行孕中期胎儿结构筛查的362名孕产妇为研究对象,均以彩色多普勒超声诊断仪于标准四腔心切面的收缩末期进行左房后空间距离测定。以产后胎儿超声心动图检查或引产后胎儿尸检结果为金标准,统计心脏超声检查结果、胎儿左心房后空间距离、胎儿TAPVC心脏超声检查特征,分析左心房后空间距离与孕周及新生儿出生Apgar评分的相关性。结果362名孕产妇中,7例通过超声诊断为心上型胎儿TAPVC,4例诊断为心内型胎儿TAPVC;TAPVC胎儿的左心房后空间距离大于正常胎儿(P<0.05);左心房后空间距离与孕周、新生儿出生Apgar评分呈负相关(r=-0.658、-0.747,P<0.05)。结论超声下测定左心房后空间距离可用于诊断胎儿TAPVC,且其结果与孕周及新生儿出生Apgar评分均呈负相关。

Surgical Treatment of Anomalous Pulmonary Venous Drainage:Report of 127 cases

Objectives We did a retrospective study to summarize the surgical experience of anomalous pulmonary venous drainage (APVD) correction and discuss effective way of improving the surgical outcome. Methods From January 1985 to May 2008, 127 patients [56 men and 71 women, aged 14-55 years with an average of (26.79±10.62) years] with APVD underwent surgical treatments. Among them, 13 patients had simple partial APVD with intact atrial septum, 104 patients had partial APVD with atrial septal defect and 10 patients had total APVD. Seventy-one patients of them accompanied with other cardiac anomalies which were also corrected in their operations. Results One early operative death due to severe low cardiac output syndrome (LCOS) developed postoperatively, which resulted in a mortality rate of 0.78%. Among other patients, 10 patients complicated with LCOS, 11 patients with arrhythmia, 7 patients with acute renal failure and 4 patients with poor wound healing, all discharged from hospital after treatment. Postoperative echocardiography reexamination revealed 1 case of mild residual shunt in atrial septum but without pulmonary vein stenosis. Conclusion For right atrial and ventricle enlarged patients with or without pulmonary hypertension, surgeons should be vigilance of accompanied APVD whether atrial septal defects exist or not. As long as no contraindications are found, surgical treatment should be performed once accurate diagnosis is obtained.

Obstructed infracardiac total anomalous pulmonary venous connection:The challenge of palliative stenting for the stenotic vertical vein

Introduction Obstructed total anomalous pulmonary venous connection(TAPVC)is one of the commonest seen emergencies in pediatric cardiology centers.Case presentation Our case was diagnosed to have this anomaly,showing early respiratory distress resulting from severe pulmonary congestion.Palliative stenting of the obstruction was done,which helped in stabilizing the debilitated hemodynamics of the baby before surgery,thus a good surgical outcome and prognosis are expected.Conclusion This intervention may be listed as a vital measurement in the preoperative cardiac stabilization plan for infants with obstructed TAPVC.

Surgical outcomes of functional single ventricle with total anomalous pulmonary venous connection

Background The surgical outcomes have been greatly improved over the past four decades for functional single ventricle(FSV). However,the repair for coexistence of FSV and total anomalous pulmonary venous connection(TAPVC),especially obstructed TAPVC,has remained a clinical challenge. Little is known about the results of surgical treatment for patients with FSV-TAPVC in China. Methods Forty consecutive patients with FSV-TAPVC undergoing initial surgical palliation(median age:16.8 months;body weight:8.25 kg)were retrospectively enrolled from 2006 to 2016 in a specialized cardiovascular institute. TAPVC was repaired in 30 patients. The mean follow-up period was 49 months. Results All of the 7 patients with preoperative pulmonary vein obstruction(PVO)underwent repair of TAPVC at the first operation and survived. When a systemic to pulmonary(S-P)shunt or pulmonary artery banding(PAB)was necessary,patients with concomitant TAPVC repair had lower mortality(30.0%)and higher total cavopulmonary connection completion rate(20.0%)than those without TAPVC repair[75.0% and 0%,respectively],although with no statistical significance(Fisher test,P=0.505 and P=0.245). The overall survival rates for the cohort at 1,3 and 5 years after the initial surgical intervention were 80.0%,77.1% and 77.1%,respectively. Multivariate COX regression analysis detected that SP shunt(adjusted odds ratio:6.51;95%CI:1.26-33.71,P=0.030)is the only risk factor for survival. The reintervention rate for postoperative PVO was higher in patients with preoperative PVO than those without(57.1%vs. 4.3%,Log Rank:P=0.006). Conclusion The mid-term results of surgical repair of FSV-TAPVC are still challenging. When PVO exists,surgical repair for TAPVC is suggested as soon as possible. Repair for TAPVC should also be considered when S-P shunt or PAB is necessary. Further study with larger population are warranted to support our finding.

完全性肺静脉异位连接的围生期一体化管理

目的 评价经产前超声心动图诊断的完全性肺静脉异位连接(total anomalous pulmonary venous connection,TAPVC)胎儿围生期一体化管理的临床有效性。方法 回顾性分析2017年1月-2021年12月在青岛市妇女儿童医院经产前超声心动图诊断的64例TAPVC胎儿围生期一体化管理的临床资料。围生期一体化管理是指对产前诊断为TAPVC的胎儿联合产科、胎儿医学科、超声科、小儿心脏外科、小儿麻醉科及新生儿科进行多学科联合诊治。结果 64例TAPVC胎儿中,心上型29例,心内型27例,心下型2例,混合型6例。42例胎儿进行了染色体核型分析,均未见明显异常。64例TAPVC胎儿中,37例被引产,27例随访至足月出生。27例TAPVC患儿中,2例放弃治疗,2例转诊至外院治疗后失访,余23例进行一期根治手术。1例因低心排综合征于术后6个月内死亡,余22例随访(2.1±0.3)年,预后均良好(2例分别因吻合口狭窄、肺静脉狭窄在术后1年内接受了第2次手术)。结论 TAPVC胎儿经围生期一体化管理多可获得良好预后。

完全型肺静脉异位引流的DSCT诊断价值及研究进展

完全型肺静脉异位引流(TAPVC)指全部肺静脉未正常回流至左心房的一类左向右分流型先天性心脏病,约占新生儿先心病发病率的1%-3%,其多变的解剖类型及肺静脉狭窄程度直接影响病人的临床症状、外科修复方式及预后。双源CT(DSCT)因时间及空间分辨率高、明显减低的辐射剂量及强大的后处理功能,能对TAPVC患者异位肺静脉起源、走行路径、连接位置、血管床状态、其他伴发畸形及心腔大小进行详细评估,成为TAPVC术前、术后随访必要的无创性检查。本文现就TAPVC的发生发展、病理生理学改变及在DSCT检查中的影像特征、价值及研究进展做一简要综述。

完全性肺静脉异位引流潜在致病基因PDX1突变对其基因功能的影响

目的·采用全外显子测序技术筛查完全性肺静脉异位引流(total anomalous pulmonary venous connection,TAPVC)的可能致病基因,并对其功能进行验证。方法·选择2014—2019年在上海交通大学医学院附属新华医院及上海儿童医学中心确诊的100例TAPVC患儿(患儿组)以及120例健康儿童(对照组)为研究对象。收集2组儿童的血液样本,抽提全血基因组DNA并行外显子测序,以筛查TAPVC的潜在致病基因。通过Mutation Taster、SIFT、PolyPhen-2网站筛选致病基因的有害突变位点,并行Sanger测序。构建PDX1野生型(野生组)及突变型(突变组)质粒,转染入HUVEC细胞后,分别采用实时荧光定量PCR (quantitative real-time PCR,qPCR)和蛋白质印迹法检测突变对PDX1的mRNA和蛋白水平的影响。采用STRING数据库进行蛋白与蛋白之间的相互作用分析,并采用qPCR研究PDX1调节的下游基因的表达。结果·在TAPVC患儿中发现致病基因为PDX1, Sanger测序显示该基因存在2个新发突变,即c.C237A(P33T)和c.C237G(P33A)。与野生组相比,2个突变组(CA组、CG组)的PDX1 mRNA水平没有显著变化,但蛋白相对表达量有明显增加,即分别是野生组的2.9倍和3.4倍(P=0.000,P=0.001)。蛋白质相互作用分析的结果显示,PDX1与SOX17相关联;且qPCR结果显示,PDX1过表达可下调HUVEC细胞中SOX17的表达。结论·PDX1的2个新发错义突变可影响其转录后翻译,且PDX1可能是通过调控SOX17来参与TAPVC的发生与发展。

Catheter ablation of paroxysmal atrial fibrillation in a young patient with a partial anomalous pulmonary venous connection

It has been demonstrated that pulmonary veins （PV）play an important role in the initiation and perpetuation of paroxysmal atrial fibrillation （PAF）.1-5 Therefore, PV isolation has become the cornerstone for catheter ablation in the majority of these AF patients.3-5 In addition, ectopic foci in the non-PVs areas, such as superior vena cava（SVC）,

婴儿完全性肺静脉异位引流外科治疗风险因素和随访研究

目的探讨婴儿期外科治疗完全性肺静脉异位连接(total anomalous pulmonary venous connection,TAPVC)的风险因素,分析不同类型TAPVC外科治疗随访结果的差异。方法总结广州市妇女儿童医疗中心2009年1月至2019年12月婴儿期手术治疗的TAPVC患儿的资料,同时对这些患儿进行随访。将术前有关因素与住院手术死亡进行单因素相关性分析和多因素相关性分析;将全部患儿按TAPVC的类型分组,分别用Kaplan-Meier法生成术后各组的近-中期生存曲线,并对这些生存曲线用log-rank法进行总体差异性检验,同时对各组间的差异性进行检验。结果手术患儿246例,手术死亡16例,手术病死率为6.50%。心内型、心上型、心下型、混合型分别为91例、106例、34例、15例,分别手术死亡2例、5例、6例、3例,病死率分别2.20%、4.72%、17.65%、20.00%。单因素分析显示与手术死亡有相关性的因子有TAPVC类型、术前休克/酸中毒、体外循环时间、主动脉阻断时间、手术过程中有深低温停循环;多因素分析显示与手术死亡有相关性的因子有TAPVC类型、术前休克/酸中毒、体外循环时间、主动脉阻断时间、手术过程中有深低温停循环、手术时低体质量。全部手术存活患儿随访死亡19例,用Kaplan-Meier法生成生存曲线,术后1年、3年、6年、9年总体累积生存率分别为89%、86%、85%、85%。随访死亡患儿中,心上型、心内型、心下型、混合型分别为6、5、8、0例。各组术后1年、3年、6年、9年累积生存率分别为心内型92%、92%、92%、92%;心上型93%、90%、89%、89%;心下型70%、54%、54%、54%;混合型80%、80%、80%、80%。术后各组生存曲线比较,差异有统计学意义(P<0.05):心下型术后累计生存率显著低于心内型和心上型。结论婴儿期TAPVC的外科治疗独立风险因子有TAPVC类型、术前休克/酸中毒、体外循环时间、主动脉阻断时间、手术过程中有深低温停循环、手术时低体质量;婴儿期TAPVC的心内型、心上型、混合型、心下型术后近中期累计生存率总体上有显著差异;心下型术后累计生存率显著低于心内型、心上型。

137例婴幼儿完全性肺静脉异位引流各年龄段临床特点和外科疗效分析

目的:探讨婴幼儿完全性肺静脉异位引流(TAPVC)各年龄段的临床特点和外科治疗效果。方法:2000-01至2006-12诊断TAPVC并在我院进行手术治疗的婴幼儿(除外合并法乐四联症、右心室双出口、完全性房室通道、单心室等复杂畸形的患儿)共137例。分为≤28天新生儿组(组1,n=7)、>28天～≤6个月组(组2,n=70)、>6个月～≤1岁组(组3,n=26)、>1岁～≤3岁组(组4,n=34)4个年龄组。137例患儿伴房间隔缺损119例,卵圆孔未闭18例,动脉导管未闭27例,室间隔缺损2例,三尖瓣关闭不全103例。合并重度肺动脉高压50.4%(69/137),其中≤6个月患儿(组1、组2)占71.0%(49/69)。心上型49.6%(68/137),心内型37.2%(51/137),心下型1.5%(2/137),混合型11.7%(16/137)。合并肺静脉狭窄18.2%(25/137),其中≤6个月患儿(组1、组2)占88.0%(22/25)。结果:手术死亡率11.7%(16/137),组1和组2占87.5%(14/16)。主要死亡原因为肺部感染和低心排综合征。有随访资料99例,随访率81.8%(99/121),随访期限2～86个月,平均(25.5±22.3)个月。晚期死亡9例,均为组1和组2患儿,晚期死亡率9.1%(9/99)。结论:年龄>6个月的TAPVC患儿可获得满意的外科治疗效果,而年龄≤6个月尤其是新生儿患儿病情重,合并限制性房间隔缺损、肺静脉狭窄和重度肺动脉高压比例高,往往需要急诊手术,手术及远期死亡率较高。

超声心动图诊断完全型肺静脉异位引流及合并心脏畸形

目的探讨超声心动图诊断完全型肺静脉异位引流(TAPVD)及合并心脏畸形的应用价值。方法回顾性分析经我院超声心动图诊断为TAPVD的59例患儿的临床及超声心动图诊断资料,其中12例于本院接受CTA检查,19例于本院接受手术治疗,对余28例进行电话随访。结果 59例TAPVD患儿中,心上型24例(24/59,40.68%),心内型22例(22/59,37.29%),心下型8例(8/59,13.56%),混合型5例(5/59,8.47%)。59例患儿均合并房间隔缺损,其中10例共同肺静脉伴有不同程度的狭窄。除8例失访外,在接受CTA检查与手术治疗的51例患儿中,50例超声心动图检查结果得到证实,余1例误诊。超声心动图诊断符合率为98.04%(50/51),诊断引流位置准确率为100%(50/50)。结论超声心动图对诊断TAPVD分型及合并心脏畸形具有重要的应用价值。

完全性肺静脉畸形引流的彩色多普勒超声诊断

目的 :探讨彩色多普勒超声诊断完全性肺静脉畸形引流 (TAPVC)的价值。方法 :应用HP2 5 0 0、Angilet5 5 0 0型彩色多普勒超声诊断仪检查 7例TAPVC患者 ,常规行二维超声心动图及彩色多普勒血流显像检查 ,主要观察心腔大小、肺静脉左房开口、房间隔缺损部位、大小及分流方向 ,跟踪扫查共同静脉干的走行及开口部位。结果 :7例TAPVC患者中 ,心上型 5例 (ⅠA1例 ,ⅠB1例 ) ,心内型 2例 (ⅡA1例 ,ⅡB1例 ) ,检查发现本组患者均有右房、右室明显增大 ,左房、左室较小 ;继发孔型房间隔缺损 ;左房内不能探及肺静脉开口 ,在心脏后方探及一粗大管道 (CPV) ,其结果与手术完全一致 ,彩色多普勒超声正确显示TAPVC部位。结论 :应用彩色多普勒超声可确定TAPVC的诊断和分型 ,为制定手术方案提供重要依据。

25例肺静脉异位引流的超声心动图分析

目的探讨肺静脉异位引流（APVD）的超声表现，以及经胸及经食道超声心动图在诊断APVD中的应用价值。方法回顾性分析资料，2000年6月至2005年6月共有25例经TEE或经手术证实的APVD患者．男14例，女11例，年龄4～59岁，平均（29．56±10．38）岁。其中，完全型（TAPVD）7例，部分型（PAPVD）18例。结果APVD无特异性的临床特点。所有患者经胸超声心动图均显示右房室增大。78％（14／18）的PAPVD合并房间隔缺损，4例PAPVD不合并其他畸形。7例TAPVD经胸超声心动图（TTE）正确诊断6例（85．71％）。TTE诊断及疑似诊断PAPVD为52．94％（9／17例），单纯TEE的诊断正确率为84．62％（11／13例）。联合TTE及TEE检查，PAPVD的检出率提高到92．31％（12／13）。结论对右房室增大伴或不伴肺动脉高压的患者无论有无房间隔缺损均应警惕合并APVD，特别是部分型APVD的可能，应常规对肺静脉进行检测。联合TTE和TEE检查有助于提高APVD，尤其是部分型APVD的检出。