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.

Arrhythmias in Common Arterial Trunk(CAT):Uncommon Atrial Tachycardia in CAT with Anomalous Pulmonary Venous Connection and Re-entry Atrial Tachycardia in CAT with HIV Seropositive Mother

We show a brief report of two common arterial trunk cases(CAT)with different arrhythmias and discuss anatomy,clinical and diagnostic management.The burden of volume and pressure overload of this cardiac malformation may predispose to different types of arrhythmia before and after surgical repair.Because of labile hemodynamic state in this group of patients,prompt diagnosis of any arrhythmia is mandatory as the devastating factor on prognosis.The first patient with a diagnosis of CAT Type II Collett and Edwards(CE)had a particular history with HIV seropositive mother assuming antiretroviral therapy during pregnancy,who presented hyperbilirubinemia and liver dysfunction at birth,and re-entry atrial tachycardia after repair.The second patient had CAT Type I CE with a partial anomalous venous connection of left superior pulmonary vein and uncommon type of atrial tachycardia with dual AV nodal physiology.

Partial Anomalous Pulmonary Venous Connection and the Nature of Associated Sinus Venosus Defect

Background:Partial anomalous pulmonary venous connection(PAPVC)is frequently associated with atrial septal defect(ASD),especially sinus venosus defect(SVD).Although Waggstaffe described the pathology of SVDs in 1868,the exact anatomic features and the nature of SVD remains controversial.SVDs with no posterior atrial rim were observed in recent years.However,no studies suggested that absence of the residual posterior atrial septal tissue might be the key feature of SVD.The aims of this study were to investigate if absence of posterior rim of atrial septum played a crucial role in patients with SVD.Methods:From January 2011 to December 2019,256 children with PAPVC combined ASD and 878 children with isolated ASD who underwent corrective cardiac surgery were consecutively enrolled.Comprehensive review of preoperative transthoracic echocardiography,computed-tomography images and surgical findings were performed by experienced pediatric cardiologists.The subtypes of PAPVC,locations and types of ASD,and presence of posterior atrial rim of associated ASD were investigated.Results:PAPVC was right-sided in 244 children,left-sided in 6 children,and bilateral in 6 children.In PAPVC cases,ASD without posterior atrial rim existed in 226 SVD cases.ASD without posterior atrial septum only existed in cases with one or more right pulmonary veins returning to right atrium(RA)or to RA-superior vena cava junction.In cases with isolated ASD,there were 3 SVD,and the other 875 cases were secundum ASD.Conclusions:ASD without posterior atrial rims was associated with one or more right pulmonary veins returning to RA or RA-superior venous cava(SVC)junction.For SVD,the key feature is that the defect is in the posterior of the interatrial septum with no posterior septal rim,rather than adjacent to the SVC or to the inferior vena cava.

Pulmonary Hypertension Crisis in Patient with Tetralogy of Fallot and Mixed Total Anomalous Pulmonary Vein Connection after the Primary Correction:A Rare Case Report

Tetralogy of Fallot(TOF)with total anomalous pulmonary vein connections(TAPVC)is a rare type of complex congenital heart disease among all TOF cases.Co-presentation of major aortopulmonary collateral arteries(MAPCAs)compensates for the lack of central pulmonary bloodflow and decreases the severity of right-to-left shunting in TOF.We present a case of a 2-year-old child with complex diagnoses of TOF,TAPVC,a large secun-dum atrial septal defect(ASD),and intraoperatively identified MAPCAs.She underwent surgery to repair the TAPVC,valve-sparing reconstruction of the right ventricular outflow tract,interventricular defect closure,and the creation of patent foramen ovale(PFO).After the operation,hemodynamic instability happened along with sudden blood pressure drop,desaturation,and increased central venous pressure,which subsided after adminis-tering inhalational nitric oxide(NO).A postoperative pulmonary hypertension crisis was suggested when the patient experienced recurrent symptoms after the termination of NO.Echocardiographicfindings of a D-shaped left ventricle(LV),right-to-left PFO shunt and high tricuspid valve gradientfirmly established the diagnosis.It was subsequently managed with continuous NO inhalation and sildenafil,which rendered a satisfactory outcome.Repaired TOF and TAPVC could be at particular risk of developing pulmonary hypertension crisis,especially in the presence of MAPCAs due to possible remodeling of the pulmonary vasculature.Furthermore,a relatively non-compliant LV function and small left atrial size may exacerbate the risk of developing postcapillary pulmonary hypertension after TAPVC repair.A successful postoperative outcome calls for a meticulous preoperative analysis of the anatomical lesions,as well as careful monitoring.

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

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.

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.

超声心动图在评估完全型肺静脉异位引流合并限制型与非限制型房间隔交通中的应用价值分析

目的 总结超声心动图在评估完全型肺静脉异位引流(TAPVC)合并限制型与非限制型房间隔交通中的应用价值。方法 对2020年1月至2022年6月在首都医科大学附属北京安贞医院经外科手术确诊的49例TAPVC患者的超声心动图及临床资料进行回顾性分析。设定超声心动图测量房间隔交通≤5 mm为限制型房间隔交通,将患者分为限制组(23例)和非限制组(26例)。分别于术前及术后1、3个月行超声心动图检查,测量左心室内径(LVD)、右心室内径(RVD)、三尖瓣反流峰值压差(PTR)。分析并比较2组患者术前、术后心室内径和PTR的变化。结果 49例患者术前超声心动图诊断均与手术诊断一致,符合率100%。术前,限制组LVD、LVD/RVD比值明显低于非限制组,而PTR、RVD则明显高于非限制组,差异均有统计学意义(均P<0.01)。术后1、3个月2组PTR、RVD和LVD/RVD比值比较差异均无统计学意义(均P>0.05),限制组LVD小于非限制组[(19.3±4.2)mm比(22.3±4.6)mm、(22.6±3.8)mm比(25.9±3.7)mm],差异均有统计学意义(均P<0.05)。结论 超声心动图是诊断TAPVC的首选及准确的检查方法,早期诊断有利于尽早手术治疗,并能有效评价心脏容量改变及肺动脉高压下降情况,具有较高的临床应用价值。

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.

完全性肺静脉异位引流诊断探讨(附91例报告)

目的 探讨完全性肺静脉异位引流 (TAPVC)诊断方法。方法 总结 1986年 10月 -2 0 0 2年 2月收治入院的91例TAPVC的临床及辅助检查资料。结果 超声心动图与心导管造影比较诊断符合率 10 0 % ,引流位置准确率为 96.7%( 88/91)。 91例进行心导管造影检查明确了类型。 1例心下型TAPVC行MRI检查 ,清楚地显示了肺静脉回流情况及伴发畸形 ,与心导管造影结果一致。结论 心导管造影对本病是一个重要的检查手段 ,尤其对一些复杂型TAPVC、年龄大、临床症状重的患儿 ,为其外科手术提供了正确的解剖及生理数据。超声心动图能较准确地反映完全性肺静脉异位引流部位及其类型 ,但必须在超声心动图能明确排除有混合性异位引流或复杂畸形时才可直接手术。磁共振 (MRI)新技术应用于临床为本病的诊断提供了新方法并弥补了心导管造影的不足 ,尤其是心下型者。

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。

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。

混合型肺静脉异位引流的彩色多普勒超声心动图诊断

目的:探讨彩色多普勒超声心动图对混合型肺静脉异位引流(MTAPVC)的诊断价值。方法:经心导管及手术证实为MTAPVC的11例患者为研究对象,回顾性分析其超声心动图。结果:患者可分三种类型:A型(心上型合并心内型)8例;B型(心上型合并心下型)2例;C型(心上型,合并有两个回流部位)1例。彩色多普勒超声心动图对MTAPVC诊断的正确率为81%(9/11)。结论:如能多部位、多切面仔细观察,彩色多普勒超声心动图可以比较准确地诊断混合型完全性肺静脉异位引流。

完全型肺静脉异位引流的超声心动图诊断及漏误诊分析

目的探讨完全型肺静脉异位引流(TAPVC)的超声心动图诊断要点及漏误诊分析。方法回顾性分析经手术证实的41例TAPVC患者的超声心动图特征,并与手术结果进行对照。结果心上型22例,心内型13例,心下型2例,混合型4例;超声心动图诊断TAPVC40例,诊断符合率为97. 6%(40/41),4例混合型超声漏诊部分引流途径,误诊1例,超声确切诊断符合率为87. 8%(36/41)。结论超声心动图可以准确诊断完全型肺静脉异位引流,混合型易漏诊部分引流途径,联合CT血管成像可提高混合型TAPVC诊断准确率。