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.

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.

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.

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.

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.

New Insights into Sinus Venosus Defects from Cross-Sectional Imaging

Sinus venosus defects include two varieties,superior and inferior sinus venosus defects.The superior sinus venosus defect is characterized by abnormal communication between two closely related venoatrial structures:1)the normally positioned superior vena cava-right atrium complex and 2)the right pulmonary vein-left atrium complex that is displaced leftward,forward and upward.Inferior sinus venosus defects primarily involve the inferior vena cava-right atrial junction while the right pulmonary vein-left atrial junction can also be affected.Because of the rarity and wide variation of the defects,the morphological characterization of sinus venosus defects is inconsistent among investigators and often inaccurate.Modern imaging technologies with high spatial and temporal resolutions have allowed accurate and detailed assessment of the pathological anatomy in larger numbers of cases.In this pictorial essay,we revisit the established and controversial features of the sinus venous defects using twodimensional(2D)and three-dimensional(3D)images obtained by magnetic resonance(MR)or computed tomography(CT)with brief discussion on imaging and treatment strategies.

Extended anastomosis with suture-less technique for primary repair of supra-cardiac TAPVC

Background Total anomalous pulmonary venous connection （TAPVC） is the most important anomaly of the pulmonary veins. Many surgical techniques have been proposed to establish a widely patent connection between the common pulmonary vein and the left atrium while avoiding post-repair pulmonary vein stenosis. However, for patients with hypoplastic common pulmonary vein, the traditional techniques may be limited by the vessel’s length and size. The anastomotic technique can cause trauma to the pulmonary venous endothelium. We propose a novel anastomotic technique for the primary surgical repair of supra-cardiac TAPVC where the venous incision is extended onto the vertical vein and a suture-less anastomosis is performed. Methods From January 2000 to December 2008, 143 patients were surgically treated for TAPVC at Guangdong Cardiovascular Institute, including 59 （41.2 %） cases of supracardiac type, 63 （44.1 %） of cardiac type, 6 （4.2 %） of infracardiac type, and 15 （10.5 %） of mixed type. Twenty one of 59 supracardiac TAPVC were undertaken with the extended anastomotic technique through the pericardial oblique sinus approach. This group included 9 boys and 12 girls. Aged at presentation ranged from 2 days to 13 years with a median of 4 months. Weight ranged from 2.3 kg to 25 kg with a median of 4.8 kg. Results There was no early or late mortality. One case failed to follow-up. The mean aortic cross-clamp time was 42.5 ± 6.4 minutes. The cardiopulmonary bypass time was 75.6 ± 7.2 minutes. Deep hypothermic circulatory arrest was not employed in any case. Intraoperative echocardiogram demonstrated a widely patent anastomosis between the common pulmonary vein and the left atrium. The velocities across the anastomosis were in the range of 0.50 to 0.75 m/s. Four cases required delayed sternal closure due to hemodynamic instability. The mean ICU stay was 8.7 ± 5.3 days with a mean period of artificial ventilation of 4.2 ± 2.9 days. The duration of follow up was 3.8 ± 1.8 years with one case lost to follow up. Assessments with transthoracic echocardiography showed the velocities across the anastomosis were in the range of 0.55 to 0.75 m/s. Conclusions Extended anastomosis with suture-less technique can be an effective method for primary repair of supracardiac TAPVC. TAPVC is the most important anomaly of the pulmonary veins.