Association of right aortic arch and agenesis of ductus arteriosus in prenatal tetralogy of Fallot spectrum and its clinical implications.

OBJECTIVE: In our center, we observed an increased frequency of right aortic arch (RAA) with an agenesis of the ductus arteriosus (ADA) in prenatally diagnosed tetralogy of Fallot (ToF) and its variations. This study aimed to determine whether there is an association of RAA and ADA in fetuses with ToF. Distribution of genetic anomalies and impact on postnatal outcome were further evaluated. METHOD: Single-center retrospective observational study including pregnancies with prenatal diagnosis of ToF from 2010 to 2023. All cases were subdivided into ToF with pulmonary stenosis (PS) and pulmonary atresia (PA). Clinical and echocardiographic databases were reviewed for pregnancy outcome, genetic anomalies, and postnatal course. RESULTS: The cohort included 169 cases, 124 (73.4%) with ToF/PS and 45(26.6%) with ToF/PA. Agenesis of the ductus arteriosus was significantly associated with RAA in both subtypes of ToF (p = 0.001) compared to left aortic arch and found in 82.5% (33/40) versus 10.7% (9/84) of fetuses with ToF/PS and in 57.1% (8/14) versus 12.9% (4/31) of fetuses with ToF/PA. In both ToF/PS and ToF/PA, RAA/ADA versus RAA/patent DA revealed a significantly higher risk for the presence of genetic abnormalities, especially microdeletion 22q11.2, major aorto-pulmonary collateral arteries and a shorter time to complete surgical repair. CONCLUSION: We demonstrated a significantly increased frequency of RAA/ADA in patients with prenatally diagnosed ToF. Although this association revealed no significant impact on overall survival, the prenatal detection of RAA/ADA has implications for counseling, genetic evaluation and postnatal management.

Major aortopulmonary collateral arteries in association with atrioventricular septal defect with balanced ventricles and trisomy 21.

A major aortopulmonary collateral artery is a rare and easily missed diagnosis that is usually associated with Tetralogy of Fallot or pulmonary atresia. We present two cases of major aortopulmonary collaterals associated with trisomy 21 and atrioventricular septal defect with balanced ventricles in which the diagnosis went undetected until after initial cardiac repair.

Balloon Valvuloplasty via the Pulmonary Artery Trunk for Treating Neonates With Severe Pulmonary Valve Disease.

BACKGROUND: Percutaneous balloon pulmonary valvuloplasty has proven to be a standard of care for neonates with severe pulmonary valve disease. However, the peripheral vessel injury, tricuspid chordae tendineae rupture, and cardiac tamponade could occur. Recently, we performed balloon valvuloplasty through pulmonary artery trunk. To date, the obtained outcome was promising. METHODS: Between January 2018 and December 2018, three neonates with critical pulmonary stenosis and two with membranous pulmonary atresia with intact ventricular septum were enrolled in our center. Balloon valvuloplasty through pulmonary artery trunk was performed in all patients. A 2-cm parasternal incision was made in the left third intercostal space. A guidewire was used to advance or perforate the pulmonary valve from the pulmonary artery trunk into the right ventricle, followed by balloon dilation of the valve. RESULTS: The procedure was successful in all patients. The oxygen saturation increased immediately after the balloon dilation, while the right ventricular systolic pressure and the gradient across the pulmonary valve decreased. No severe complications occurred. CONCLUSIONS: Balloon valvuloplasty through the pulmonary artery trunk is a safe and feasible alternative procedure. Thus, it could serve as a supplementary choice for treating severe pulmonary valve disease.

Bilateral coronary ostial atresia in a patient with pulmonary atresia and ventricular septal defect.

This is a case of a female infant with bilateral coronary ostial atresia associated with pulmonary atresia and ventricular septal defect. She developed coronary ischemia at 1-month of age, when she underwent an aortopulmonary shunt and an aorta-right ventricle shunt. The double-orifice tricuspid valve was separating the right ventricle from the left ventricle. She required extracorporeal cardiopulmonary support because of ventricular dysfunction and mitral regurgitation. Although she was temporarily weaned off the support after mitral valvuloplasty, she died from multiple organ failure. To the best of our knowledge, bilateral coronary ostial atresia associated with pulmonary atresia with ventricular septal defect has not been reported previously.

Rare cause of dynamic aortic obstruction in pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries: a case report.

A 2-month-old infant with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries developed an aneurysmatic elongation of the tricuspid valve tissue that partially closed and dynamically protruded through the ventricular septal defect, beneath the aortic valve. This rare finding caused dynamic left ventricle outflow tract obstruction and recurrent cardiac arrests and ultimately required surgical intervention.

Three-Dimensional Printing, Virtual Reality and Mixed Reality for Pulmonary Atresia: Early Surgical Outcomes Evaluation.

BACKGROUND: Single-stage unifocalisation for pulmonary atresia (PA) with ventricular septal defect (VSD) and major aortopulmonary collateral arteries (MAPCA) requires a high degree of three-dimensional (3D) anatomical imagination. A previous study has reported the application of a 3D-printed heart model with virtual reality (VR) or mixed reality (MR). However, few studies have evaluated the surgical outcomes of the 3D model with VR or MR in PA/VSD patients. METHODS: Three-dimensional (3D) heart models of five selected PA/VSD patients were derived from traditional imageology of their hearts. Using VR glasses, the 3D models were also visualised in the operating room. Both the 3D-printed heart models and preoperative evaluation by VR were used in the five selected patients for surgical simulation and better anatomical understanding. Mixed reality holograms were used as perioperative assistive tools. Surgical outcomes were assessed, including in-hospital and early follow-up clinical data. RESULTS: The use of these three new technologies had favourable feedback from the surgeons on intraoperative judgment. There were no in-hospital or early deaths. No reintervention was required until the last follow-up. Three (3) patients developed postoperative complications: one had right bundle branch block and ST-segment change, one had chest drainage >7 days (>40 mL/day) and one had pneumonia. CONCLUSION: The preoperative application of a 3D-printed heart model with VR or MR helped in aligning the surgical field. These technologies improved the understanding of complicated cardiac anatomy and achieved acceptable surgical outcomes as guiding surgical planning.

Transcatheter Approach for Critical Pulmonary Stenosis or Pulmonary Atresia with Intact Ventricular Septum in Young Infants Using the Simmons Catheter.

METHODS AND RESULTS: We retrospectively reviewed 52 young infants, 41 of whom had CPS and 11 had PA/IVS, in a single center from June 2009 to October 2017. Patients were divided into three groups according to the type of catheter used to enter through the RVOT. The unique structure of the Simmons catheter allowed it to be maneuvered directly into the RVOT within a few minutes. Compared with the other two groups, the Simmons catheter group had a significantly shorter fluoroscopy time entering through the RVOT (P < 0.001) and a shorter total X-ray exposure time (P < 0.001). Furthermore, compared with the floating catheter group, the success rate of surgery was much higher in the Simmons catheter group (P < 0.001). CONCLUSIONS: The Simmons catheter is a safe and effective method to enter through the RVOT in infants with CPS or PA/IVS. Therefore, the Simmons catheter could be an alternative catheter when entering through the RVOT in young infants, especially neonates with low birth weight.

Low prenatal detection rate of valvar pulmonary stenosis: What are we missing?

OBJECTIVES: Critical pulmonary stenosis (PS) and pulmonary atresia with intact ventricular septum (PAIVS) require urgent neonatal intervention. Since PS may be more insidious than PAIVS during gestation, we hypothesized that neonates with PS would have lower rates of prenatal detection than PAIVS. METHODS: We performed a retrospective chart review of all neonates who underwent diagnostic or interventional cardiac catheterization between 2000 and 2014 for critical PS or PAIVS. The rates of prenatal diagnosis were calculated for PS and PAIVS. Prenatal and postnatal echocardiographic data were reviewed. RESULTS: 178 patients met inclusion criteria: 91 with critical PS and 87 with PAIVS. The prenatal diagnosis rate for critical PS was lower than for PAIVS at 37% (34/91) vs 60% (52/87) (P = .003). At the time of diagnosis at a median gestational age of 25 weeks, the median TV z-score for patients with critical PS was larger than in PAIVS (-0.15 vs -3.0 P = .004). CONCLUSION: Critical PS had a lower prenatal detection rate than PAIVS, likely due to a relatively normal 4-chamber view at the time of routine second trimester screening in patients with PS. Color flow Doppler of the outflow tracts may improve detection, since outflow tracts may appear normal by 2D imaging.

A case of COVID-19 in a patient with a univentricular heart post total cavopulmonary connection (Fontan) surgery.

Coronavirus disease 2019 (COVID-19) has caused a global pandemic which has affected patients and healthcare systems around the world. Patients with underlying health conditions seem to be more severely affected. There are limited reports of patients with univentricular circulations and COVID 19; thus, we report a case of COVID-19 in a patient with a univentricular circulation.

Segmental Pulmonary Hypertension in Children with Congenital Heart Disease.

Segmental pulmonary hypertension is a complex condition in children that encompasses many congenital heart diseases including pulmonary atresia with ventricular septal defect, hemitruncus/truncus arteriosus with branch pulmonary artery stenosis, unilateral absent pulmonary artery, and several post-tricuspid shunt lesions. Multimodality imaging is required to confirm and assess pulmonary vascular disease in subjects with major aorto-pulmonary collaterals. We describe 3 children with complex congenital heart defects who have a variable degree of segmental pulmonary hypertension and discuss management strategies and the role of interventional and/or pulmonary hypertension targeted therapies.

Fetal pulmonary atresia with ventricular septal defect: Features, associations, and outcome in fetuses with different pulmonary circulation supply types.

OBJECTIVES: To assess features and outcome in fetuses with pulmonary atresia with ventricular septal defect (PA-VSD). METHODS: Fetuses with PA-VSD were prospectively enrolled and grouped on the basis of the pulmonary blood supply, including type A (only arterial duct [DA]), type B (both DA and major aortopulmonary collateral arteries [MAPCAs] present), and type C (MAPCAs only). The echocardiography features, associated chromosomal/genetic malformations, and postnatal outcome were compared among the three groups. RESULTS: Fifty-five fetuses with PA-VSD were enrolled. The presence of confluent PAs varied, with the highest displaying rate in type A and lowest rate in type C (100% vs 41.1%). The intrapericardial pulmonary arteries in all groups were hypoplastic but smaller in types B and C than in type A (P < .05). Deletion of 22q11.2 and right aortic arch were more frequently observed in types B and C than in type A. At the end of the study, overall survival rates in type C were lower than those in type A (22.1% vs 77.3%). CONCLUSION: There are great differences in the size of pulmonary arteries, associated genetic malformations, and perinatal outcomes among fetuses with PA-VSD. These results could be used for family counseling and surgical planning.

Hybrid procedure of right ventricle outflow tract stenting in small infants with pulmonary atresia and ventricular septal defect: early and mid-term results from a single centre.

IntroductionPulmonary atresia, ventricular septal defect, major aorto-pulmonary collateral arteries, and pulmonary arteries hypoplasia are rare and complex congenital defects that require early interventions to relieve cyanosis and enhance the growth of native pulmonary arteries. The treatment of these patients is still controversial. Surgical techniques require cardiopulmonary bypass which is poorly tolerated by small infants. Percutaneous techniques such as radiofrequency perforation can be challenging. The hybrid technique consists of perventricular stenting of the right ventricle outflow tract through medial sternotomy, to restore native pulmonary flow. METHODS: We retrospectively reviewed the cardiovascular database of our centre in order to analyse our experience in hybrid procedure. We detected six patients who underwent hybrid first approach between November 2007 and December 2015. We report our early results and mid-term outcomes. RESULTS: Median age at the procedure was 26 days, median weight was 3150 g, and median Nakata index was 52 mm2/m2. All procedures were successful except for one: this patient underwent a surgical shunt. No immediate and early deaths or major complications occurred and oxygen saturation levels increased in all the patients. Patients were followed up for a period of 12-103 months, and four of them underwent a procedure of unifocalisation at the mean age of 12.5 months. CONCLUSIONS: We reported data from the largest series of patients who underwent this hybrid procedure. Our experience demonstrated encouraging results to expand the use of this approach to bridge high-risk patients with diminutive pulmonary arteries to a second step of surgical repair.

Prenatal diagnosis of fetal absent pulmonary valve syndrome by two- and three-dimensional echocardiography.

Absent pulmonary valve syndrome (APVS) is a rare congenital cardiac anomaly characterized by hypoplastic or even absent pulmonary valve, to-and-fro flow across the pulmonary valve annulus, and dilatation of main pulmonary artery and branches. It is crucial to evaluate the degree of dilatation of pulmonary arteries and the presence of associated malformation and chromosomal anomalies affecting pregnancy decision. We described two- and three-dimensional (3D) echocardiographic findings of one fetus with APVS and indicated the beneficial contribution of 3D technology in understanding the anatomy.

Late results of right ventricular outflow tract reconstruction with a bicuspid expanded polytetrafluoroethylene valved conduit.

BACKGROUND AND AIM TO READ: We report the results of a bicuspid expanded polytetrafluoroethylene (ePTFE) valved conduit used for right ventricular outflow tract reconstruction (RVOTR). METHODS: Between November 2005 and February 2009, 12 conduits were used for RVOTR. The mean age and weight of patients were 43.5 ± 46.4 months and 13.4 ± 8.6 kg. The main diagnosis was tetralogy of Fallot with pulmonary atresia in eight patients. The most common conduit size was 18 mm. The mean follow-up was 88.0 ± 35.9 months. RESULTS: There were no operative and late mortalities. At discharge, the mean peak systolic pressure gradient across the RVOT was 14.1 ± 11.3 mmHg. There was no conduit valve regurgitation in nine patients. At the latest echocardiography (mean follow-up: 84.3 ± 35.5 months), the mean peak systolic pressure gradient across the RVOT was 59.7 ± 20.2 mmHg, and there was no conduit valve regurgitation in six patients. Freedom from conduit malfunction was 100% and 83.3%, at 1 and 8 years, respectively. Two conduits were explanted due to sternal compression and four from conduit malfunction. Freedom from explantation was 83.3% and 74.2% at 2 and 8 years, respectively. CONCLUSIONS: ePTFE bicuspid valved conduit has good late function in terms of valve regurgitation, but the pressure gradient across the conduit increases with time, which is the main cause of conduit failure and explantation.

Acquired right ventricular outflow tract aneurysm in pulmonary atresia and intact ventricular septum: a nidus for thromboembolism.

Pulmonary atresia with intact ventricular septum may be complicated by coronary aneurysms and myocardial ischaemia. We report a case of an acquired postoperative right ventricular outflow tract aneurysm with communication to the left ventricular outflow tract. Multimodality imaging helped in the characterisation of this structural abnormality, which led to treatment modification of the patient.

Postoperative feeding problems in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals undergoing unifocalisation surgery.

BACKGROUND: Patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals are at risk for prolonged hospitalisation after unifocalisation. Feeding problems after congenital heart surgery are associated with longer hospital stay. We sought to determine the impact of baseline, intra-operative, and postoperative factors on the need for feeding tube use at the time of discharge. METHODS: We included patients with the aforementioned diagnosis undergoing unifocalisation from ages 3 months to 4 years from 2010 to 2016. We excluded patients with a pre-existing feeding tube. Patients discharged with an enteric tube were included in the feeding tube group. We compared the feeding tube group with the non-feeding-tube group by univariable and multi-variable logistic regression. RESULTS: Of the 56 patients studied, 41% used tube feeding. Median age and weight z-score were similar in the two groups. A chromosome 22q11 deletion was associated with the need for a feeding tube (22q11 deletion in 39% versus 15%, p=0.05). Median cardiopulmonary bypass time in the feeding tube group was longer (335 versus 244 minutes, p=0.04). Prolonged duration of mechanical ventilation was associated with feeding tube use (48 versus 3%, p=0.001). On multi-variable analysis, prolonged mechanical ventilation was associated with feeding tube use (odds ratio 10.2, 95% confidence intervals 1.6; 63.8). CONCLUSION: Among patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals who were feeding by mouth before surgery, prolonged mechanical ventilation after unifocalisation surgery was associated with feeding tube use at discharge. Anticipation of feeding problems in this population and earlier feeding tube placement may reduce hospital length of stay.

Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies.

IntroductionThe optimal approach to unifocalisation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (pulmonary artery/ventricular septal defect/major aortopulmonary collaterals) remains controversial. Moreover, the impact of collateral vessel disease burden on surgical decision-making and late outcomes remains poorly defined. We investigated our centre's experience in the surgical management of pulmonary artery/ventricular septal defect/major aortopulmonary collaterals.Materials and methodsBetween 1996 and 2015, 84 consecutive patients with pulmonary artery/ventricular septal defect/major aortopulmonary collaterals underwent unifocalisation. In all, 41 patients received single-stage unifocalisation (Group 1) and 43 patients underwent multi-stage repair (Group 2). Preoperative collateral vessel anatomy, branch pulmonary artery reinterventions, ventricular septal defect status, and late right ventricle/left ventricle pressure ratio were evaluated. RESULTS: Median follow-up was 4.8 compared with 5.7 years for Groups 1 and 2, respectively, p = 0.65. Median number of major aortopulmonary collaterals/patient was 3, ranging from 1 to 8, in Group 1 compared with 4, ranging from 1 to 8, in Group 2, p = 0.09. Group 2 had a higher number of lobar/segmental stenoses within collateral vessels (p = 0.02). Group 1 had fewer catheter-based branch pulmonary artery reinterventions, with 5 (inter-quartile range from 1 to 7) per patient, compared with 9 (inter-quartile range from 4 to 14) in Group 2, p = 0.009. Among patients who achieved ventricular septal defect closure, median right ventricle/left ventricle pressure was 0.48 in Group 1 compared with 0.78 in Group 2, p = 0.03. Overall mortality was 6 (17%) in Group 1 compared with 9 (21%) in Group 2.DiscussionSingle-stage unifocalisation is a promising repair strategy in select patients, achieving low rates of reintervention for branch pulmonary artery restenosis and excellent mid-term haemodynamic outcomes. However, specific anatomic substrates of pulmonary artery/ventricular septal defect/major aortopulmonary collaterals may be better suited to multi-stage repair. Preoperative evaluation of collateral vessel calibre and function may help inform more patient-specific surgical management.

[Efficacy of staging surgery in pulmonary atresia with intact ventricular septum].

Objective: To assess the feasibility and efficacy of a staged invasive treatment strategy for the treatment of pulmonary atresia with intact ventricular septum, in the first stage using a catheter-based stent placement, second-stage surgery, and three-stage atrial septal occlusion. Methods: Totally 19 children with pulmonary atresia with intact ventricular septum were enrolled at Department of Cardiovascular Surgery, the Children's Hospital of Zhejiang University School of Medicine from January 2009 to December 2017, including 11 male and 8 female patients. The age was (13.8±7.7) days (ranging from 3 to 35 days). The weight was (3.4±0.5) kg (ranging from 2.8 to 4.1 kg). Among them, there were 13 cases of type Ⅱ and 6 cases of type Ⅲ. Regular follow-up visits for patients with stage Ⅰ arterial duct stenting after 1, 3, and 6 months; and routine follow-ups for 1, 3, and 6 months after stage Ⅱ surgery.The t test was used to compare the oxygen saturation between pre-operation and post-operation. Results: All 19 patients underwent arterial catheterization. The preoperative peripheral oxygen saturation was (64.4±5.3)%, while increased to (86.0±3.0)% after operation (t=16.353, P=0.000). One patient died during follow-up and 2 patients lost follow-up. One patient received stent balloon dilatation due to oxygen saturation decrease.Twelve patients completed the second-stage surgery and 1 case died after surgery. The rest were alive, including 2 cases of double-ventricular correction and 9 cases of semi-ventricular treatment in one room; 2 cases had completed three-stage atrial septal occlusion. Conclusions: Stage Ⅰ arterial duct stent, stage Ⅱ surgery, and stage Ⅲ atrial septal occlusion to treat pulmonary atresia with intact ventricular septum in children is feasible and effective. The method can be used as the important treatment direction for pulmonary atresia with intact ventricular septum.

Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onwards: novel insights into pathophysiology, associated conditions and outcome.

OBJECTIVE: To assess the spectrum of associated anomalies, intrauterine course and outcome in fetuses with absent pulmonary valve syndrome (APVS). METHODS: All cases with a prenatal diagnosis of APVS at two centers over a period of 13 years were analyzed retrospectively. APVS was diagnosed in the presence of rudimentary or dysplastic pulmonary valve leaflets with to-and-fro blood flow in the pulmonary trunk on color and pulsed-wave Doppler ultrasound. Data on demographic characteristics, presence of associated conditions, Doppler studies and pregnancy outcome were reviewed. RESULTS: During the study period, 40 cases of APVS were diagnosed prenatally. Thirty-seven (92.5%) cases were associated with tetralogy of Fallot (TOF) and three (7.5%) had an intact ventricular septum. Patency of the ductus arteriosus (DA) was found in 17/37 (45.9%) TOF cases and in all three cases with an intact ventricular septum. Mean gestational age at diagnosis was 19.7 (range, 12-34) weeks with 10 (25.0%) cases (all with TOF) diagnosed in the first trimester. TOF was an isolated finding in 15 (37.5%) cases. Chromosomal anomalies, cardiac defects and extracardiac anomalies were present in 18 (45.0%), four (10.0%) and three (7.5%) cases, respectively. Among the 40 cases, there were 19 (47.5%) terminations of pregnancy, six (15.0%) intrauterine deaths, four (10.0%) neonatal deaths and 11 (27.5%) survivors. Patency of the DA, reversed flow during atrial contraction in the ductus venosus, umbilical artery or fetal middle cerebral artery, and hydrops/increased nuchal translucency thickness were significantly associated with non-survival. All 10 cases diagnosed in the first trimester had a patent DA and abnormal Doppler parameters, eight had hydrops and/or increased nuchal translucency, six were associated with trisomy 13 or 18 and none survived. CONCLUSION: APVS diagnosed in the first trimester is significantly associated with TOF, patency of the DA, abnormal Doppler parameters, lethal trisomies and intrauterine mortality. Cases of APVS with isolated TOF and agenesis of the DA have a better outcome than those with additional anomalies, with > 80% survival. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Branch pulmonary artery peel operation in a patient without a native intrapericardial pulmonary artery.

A patient with pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries without an intrapericardial pulmonary artery (PA) underwent a one-stage total correction, including both branch PA reconstructions, with a bovine pericardial roll at the age of 42 months. She was readmitted 54 months after the operation because of extracardiac conduit bacterial endocarditis and pulmonary infarction. The bovine pericardial roll between the right and left PAs was enucleated, and the surrounding fibrotic tissue (peel) was used as a new branch PA vascular conduit. A cardiac catheterization performed 86 months after the peel operation showed no aneurysmal dilatation, stenosis, or thrombotic occlusion.