OBJECTIVE: Pulmonary atresia with intact ventricular septum and critical pulmonary stenosis usually have to undergo treatment in the neonatal period. Compared to traditional surgical intervention, catheter-based cardiac interventions may achieve similar or superior outcomes for neonates with pulmonary atresia with intact ventricular septum and critical pulmonary stenosis. However, there is limited literature on anaesthesia techniques, challenges, and risks associated with cardiac catheterisation in this population.
METHODS: This article retrospectively analysed the clinical data of pulmonary atresia with intact ventricular septum and critical pulmonary stenosis neonates who were treated with interventional cardiac catheterisation in our hospital from January 2015 to October 2022. Clinical outcomes considered were haemodynamic or pulse oxygen saturation instability, vasoactive requirements, prolonged intubation (>24 h postoperatively), and cardiovascular adverse events.
RESULTS: A total of 63 patients met the inclusion criteria. All patients survived the intervention. Among the patients with critical pulmonary stenosis, 40 successfully received percutaneous balloon pulmonary valvuloplasty, while three patients received ductal stenting due to moderate right ventricular dysplasia at the same time. For patients with pulmonary atresia with intact ventricular septum, 17 of the 23 patients successfully underwent percutaneous pulmonary valve perforation and percutaneous balloon pulmonary valvuloplasty. Of these, five patients underwent ductal stenting due to unstable pulmonary blood flow. Three patients only underwent ductal stenting. In addition, three patients received hybrid therapy.
CONCLUSIONS: There are various clinical techniques and risk challenges in the interventional cardiac catheterisation of neonatal pulmonary atresia with intact ventricular septum and critical pulmonary stenosis. However, by mastering the physiological and pathophysiological characteristics of the disease, adequately preparing for the perioperative period, and predicting the procedure process and potential complications, anaesthesia and surgical risks can be effectively managed.

UNASSIGNED: Massive tricuspid regurgitation (TR) is the most common feature of pulmonary atresia with intact ventricular septum (PA/IVS), and mild or absent TR is observed in severe right ventricular (RV) dysplasia or RV-to-coronary fistulous connections, resulting in non-biventricular (BV) outcomes postnatally.
UNASSIGNED: We report a case of fetal severe pulmonary stenosis with IVS diagnosed at 26 weeks of gestation. The severity of RV hypoplasia did not worsen or reach indications for intrauterine intervention, while the jet velocity of TR decreased significantly during pregnancy. The fetus was definitely diagnosed with PA/IVS with mild RV dysplasia after birth. Unusually, the fetus did not experience severe TR and myocardial sinusoids, the TR jet velocity was maintained at 2.0 m/s, and the coronary artery was almost normal. The incapable RV cannot pump blood into pulmonary circulation after RV decompression from valvular perforation and balloon dilation. It may be an extraordinary finding of subsystemic RV.
UNASSIGNED: PA/IVS is a heterogeneous disease with various degrees of RV dysplasia. Mild or no baseline TR is a reliable indicator with non-BV outcomes for fetal PA/IVS, even with acceptable dysplasia RV structures.

This study aimed to identify factors that affect the prognosis of children with pulmonary valve atresia and intact ventricular septum treated with transthoracic balloon dilation of the pulmonary valve. The study included 148 participants who were followed up for 5 years. Of these, 10 died, while 138 survived. Independent sample t-test and χ2 test were used to analyze clinical data of children in the death and survival groups. It was found that height, weight, body surface area, arterial oxygen saturation, degree of tricuspid regurgitation, pulmonary valve cross valve pressure difference, ICU length of stay, length of stay, reoperation intervention, and complications were statistically significant (P<0.05). ROC curve analysis of the measurement indicators with statistically significant differences showed that height, weight, body surface area, arterial oxygen saturation, ICU length of stay, and length of stay had AUCs ranging from 0.723 to 0.870. Logistic regression analysis revealed that the degree of tricuspid regurgitation, pulmonary valve cross valvular pressure difference, ICU length of stay, reoperation intervention, and complications were independent risk factors that affect the prognosis of patients with PA/IVS undergoing transthoracic balloon dilation of pulmonary valve. The study proposed a nomogram prediction model using R language software 4.0 \"rms\" package, which was validated using calibration curve and decision curve. The model had a C-index of 0.667 (95% CI: 0.643-0.786) and high degree of fit. This study provides clinicians with a prediction model to identify children with poor prognosis after treatment with transpulmonary valve balloon dilatation.           .

To explore the effect of initial surgery for type I and II pulmonary atresia with intact ventricular septum (PA/IVS).
50 children with type I PA/IVS and 50 with type II PA/IVS who had undergone initial surgery were enrolled. Children with Type I were divided into groups A (n = 25) and B (n = 25). Group A had received BT shunt combined with PDA ligation and balloon dilatation of pulmonary valve, whereas group B had undergone BT shunt combined with PDA ligation and pulmonary valve incision. Children with type II were divided into groups C (n = 25) and D (n = 25). Group C had received BT shunt combined with PDA ligation, right ventricular outflow tract (RVOT) incision and transannular patch. Group D had undergone BT shunt combined with PDA ligation, RVOT incision, transannular patch and artificial pulmonary valve implantation. The differences in mechanical ventilation time, length of ICU stay, mortality rate, tricuspid Z value, tricuspid regurgitation, oxygen saturation, pulmonary regurgitation, McGoon ratio, pulmonary artery transvalvular pressure, survival rate were compared between groups A and B, between groups C and D respectively.
The ventilator assistance time and length of ICU stay were greater in group C than in group D (80.96 ± 8.42 h vs. 65.16 ± 4.85 h, P = 0.045; 222.00 ± 11.72 h vs. 162.48 ± 7.91 h, P = 0.048). The pulmonary artery transvalvular pressure was significantly higher in group A than in group B at 3, 6, 12, 24 and 36 months after surgery (64.86 ± 4.13 mmHg vs. 53.04 ± 5.64 mmHg, P = 0.045; 69.47 ± 1.93 mmHg vs. 55.95 ± 4.04 mmHg, P = 0.005; 80.16 ± 3.76 mmHg vs. 73.24 ± 2.34 mmHg, P = 0.035; 62.95 ± 5.64 mmHg vs. 48.47 ± 7.44 mmHg, P = 0.04; 53.69 ± 4.89 vs. 45.77 ± 3.26, P = 0.02). Furthermore, the tricuspid Z value was significantly greater in group B than in group A at 3 and 24 months after surgery (- (1.37 ± 0.04) vs. - (1.43 ± 0.06), P = 0.03; - (0.41 ± 0.06) vs. - (0.51 ± 0.11), P = 0.02).
The effect of BT shunt combined with PDA ligation and pulmonary valve incision is superior to BT shunt combined with PDA ligation and balloon dilatation of pulmonary valve, and the effect of BT shunt combined with PDA ligation, RVOT incision, transannular patch and artificial pulmonary valve implantation is superior to BT shunt combined with PDA ligation, RVOT incision and transannular patch.

BACKGROUND: Pulmonary atresia (PA) is a kind of congenital heart disease characterized by right ventricular outflow tract obstruction. It is divided into PA with intact ventricular septum (PA/IVS) whose favorable form is pulmonary valvular stenosis (PS), and PA with ventricular septal defect (PA/VSD) whose favorable form is tetralogy of Fallot (TOF). Due to limitations in genetics etiology, whole-exome sequencing (WES) was utilized to identify new variants associated with the diseases.
METHODS: The data from PS-PA/IVS (n = 74), TOF-PA/VSD (n = 100), and 100 controls were obtained. The common sites between PS and PA/IVS, PA/VSD and TOF, were compared. The novel rare damage variants, and candidate genes were identified by gene-based burden analysis. Finally, the enrichment analysis of differential genes was conducted between case and control groups.
RESULTS: Seventeen rare damage variants located in seven genes were predicted to be associated with the PS through burden analysis. Enrichment analysis identified that the Wnt and cadherin signaling pathways were relevant to PS-PA/IVS.
CONCLUSIONS: This study put forth seven candidate genes (APC, PPP1R12A, PCK2, SOS2, TNR, MED13, and TIAM1), resulting in PS-PA/IVS. The Wnt and cadherin signaling pathways were identified to be related to PS-PA/IVS by enrichment analysis. This study provides new evidence for exploring the genetic mechanism of PS-PA/IVS.

This study determined the associations between right atrial (RA) and right ventricular (RV) mechanics and liver stiffness in adults with repaired tetralogy of Fallot (TOF), pulmonary atresia with intact ventricular septum (PAVIS), and pulmonary stenosis (PS).
Ninety subjects including 26 repaired TOF, 24 PAIVS, and 20 PS patients and 20 controls were studied. Hepatic shear wave velocity and tissue elasticity (E), measures of liver stiffness, were assessed by two-dimensional shear wave elastography, while RA and RV mechanics were assessed by speckle tracking echocardiography. Deformation analyses revealed worse RV systolic strain and strain rate, and RA peak positive and total strain, and strain rates at ventricular systole and at early diastole in all of the patient groups compared with controls (all P < 0.05). Compared with controls, all of the patient groups had significantly greater shear wave velocity and hepatic E-value (all P < 0.05). Shear wave velocity and hepatic E-value correlated negatively with RV systolic strain rate, and RA positive strain, total strain, and strain rate at ventricular systole and at early diastole (all P < 0.05). Multivariate analyses revealed RA strain rate at early diastole (P = 0.015, P < 0.001), maximum RA size (P < 0.001, P < 0.001), and severity of pulmonary regurgitation (P = 0.05, Pp = 0.014) as significant correlates of shear wave velocity and hepatic E-value.
In adults with repaired TOF, PAIVS, and PS, RA dysfunction and pulmonary regurgitation are associated with liver stiffness.

Background: Assessing right ventricular overload in children is challenging. We conducted this study involving children with pulmonary valvular stenosis (PS) or pulmonary atresia with intact ventricular septum (PA/IVS) to evaluate the potential of a new endogenous ligand of apelin receptor, Elabela (ELA), as a potential biomarker for right heart overload. Methods: In this prospective cohort study, a total of 118 congenital heart diseases patients with right ventricle outflow tract obstruction were recruited from 2018 to 2019. Among them, 44 isolated PS and 7 PA/IVS patients were selected. Their venous blood was collected, and all patients underwent an echocardiographic examination. Among them, post-operative blood was collected from 24 patients with PS after percutaneous balloon pulmonary valvuloplasty. The plasma ELA concentration was measured using enzyme-linked immunosorbent assay. Results: The ELA was significantly associated with the peak transvalvular pulmonary gradient (r = -0.62; p = 0.02), thus reflecting the severity of PS or PA/IVS. The ELA significantly increased at 3 days after intervention, when mechanical obstruction of the right outflow tract was relieved. Based on the receiver-operator characteristic curve results, ELA could be a risk factor for duct dependence in patients with critical PS or PA/IVS who are younger than 6 months (AUC: 0.82). Conclusion: ELA concentration and severity of PS or PA/IVS had a significant negative correlation, indicating that ELA might be a novel biomarker for right ventricular afterload and reflect the immediate pressure changes in the right heart. Furthermore, ELA could predict duct-dependency in PS and PA/IVS patients, as valuable as classical echocardiographic indexes.

We determined the prevalence and factors associated with tricuspid regurgitation (TR) in adults with repair of right ventricular (RV) outflow obstruction. A total of 256 patients (128 males) were studied at 25.7 ± 7.2 years after surgery, of whom 179 had repaired tetralogy of Fallot (TOF), 31 had pulmonary atresia with intact ventricular septum (PAIVS), and 46 had pulmonary stenosis (PS). The mitral and tricuspid annulus diameters, maximum right atrial (RA) area, RV end-systolic and end-diastolic areas, and tricuspid and pulmonary regurgitation were assessed using echocardiography. The prevalence of moderate-to-severe TR was 20.7%. Subgroup analysis revealed that prevalence was greater in patients with repaired TOF (20.7%) and PAIVS (35.5%) than PS patients (10.9%). As a group, severity of TR was found to be correlated with RA area (r = 0.35, p < 0.001), RV end-diastolic (r = 0.28, p < 0.001) and end-systolic (r = 0.22, p = 0.001) areas, and tricuspid valve annulus diameter (r = 0.15, p = 0.022). Moderate-to-severe TR was associated with development of cardiac arrhythmias with an odds ratio of 2.9 (95% CI 1.1 to 8.1, p = 0.031). Multivariate analysis revealed maximum RA area (β = 0.36, p = 0.016) as an independent determinant of severity of TR. Moderate-to-severe TR occurs in about one-fifth of adults with repaired TOF, PAVIS, and PS and is associated with RA dilation and risk of development of cardiac arrhythmias.

Surgical treatment of pulmonary atresia with intact ventricular septum (PA/IVS) in neonates is challenging because of the broad variations of right ventricular (RV) malformations. In this retrospective study, we summarized our 8-y experience in surgical management for neonatal PA/IVS patients.
Thirty-four neonates with PA/IVS between July 1, 2006 and June 30, 2014, were reviewed. Patients were categorized into three groups: mild, moderate, and severe RV hypoplasia according to RV morphology and development. Patients were on regular follow-up for at least 5 y. Overall survival, complications, reinterventions, risk factors for mortality, and health status were evaluated.
21 patients (61.8%) were treated with biventricular repair, eight patients (23.5%) with Fontan procedure, and one patient (2.9%) with bidirectional Glenn procedure. There were four postprocedural mortalities and one late death. The 5-y survival rates after final surgical repair for mild, moderate, and severe RV hypoplasia groups were 100%, 100%, and 88.9%, respectively. The reintervention rates were 0% (0/4), 21.4% (3/14), and 55.6% (5/9) for the subgroups, respectively. At the latest follow-up, most patients had a status characterized as New York Heart Association class I (88.9%, 24/27).
Surgical management for PA/IVS in neonates should be individualized. Favorable early and long-term outcomes can be achieved in neonatal PA/IVS patients by individualized surgical strategies, regardless of the degree of RV hypoplasia. In spite of potential RV catch-up development, the degree of RV hypoplasia is a factor of paramount importance to assess PA/IVS in neonates.

There is paucity of long-term data on adult survivors after biventricular repair of pulmonary atresia with intact ventricular septum (PAIVS) and pulmonary stenosis (PS). This study aimed to determine the cardiac and non-cardiac outcomes of adult survivors after biventricular repair of PAIVS and PS. The cardiac, neurodevelopmental and liver problems of 111 adults, 40 with PAIVS and 71 with PS, were reviewed. The median follow-up duration of our patients was 26.5 years (range 14.8-55 years). The freedom from reintervention at 30 years was 17.4% and 73.3% for PAIVS and PS patients (p < 0.001), respectively. Compared with PS patients, PAIVS patients had significantly greater prevalence of right atrial and right ventricular (RV) dilatation, and moderate to severe tricuspid and pulmonary regurgitation (all p < 0.05), and cardiac arrhythmias (22.5% vs. 8.5%, p = 0.047). The freedom from development of cardiac arrhythmias at 30 years of 68.4% and 91.6%, respectively, in PAIVS and PS patients (p = 0.03). Cox proportional hazards model identified PAIVS as an independent risk factor for reintervention (HR 4.0, 95% CI 2.1-7.6, p < 0.001) and development of arrhythmias (HR 4.1, 95% CI 1.1-14.4, p = 0.03). Neurodevelopmental problems were found in 17.5% of PAIVS patients and 7.0% of PS patients (p = 0.11). Liver problems occurred in 2 (5%) PAIVS patients, both of whom required conversion to 1.5 ventricular repair. In conclusion, long-term problems, including the need for reinterventions, cardiac arrhythmias, RV dilation, pulmonary regurgitation, and neurodevelopmental and liver issues are more prevalent in adult PAIVS than PS survivors.