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.

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.

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.