Objectives: This study therefore aims to determine the perinatal prognosis and delineate the key risk factors associated with outcomes in fetuses with a prenatal diagnosis of absence of pulmonary valve syndrome (APVS), with particular emphasis on Doppler ultrasound parameters, the presence of extracardiac anomalies, and comprehensive genetic findings - including rare monogenic mutations - as significant contributors to the observed perinatal course. Methods: This retrospective study included eight fetuses diagnosed with absent pulmonary valve syndrome (APVS) between 2020 and 2024 at a tertiary perinatology referral center. One patient with major extracardiac anomalies was electively terminated and excluded from the outcome analysis. For the remaining seven fetuses, detailed fetal echocardiographic assessments—including cardiac anatomy and Doppler hemodynamic parameters - were evaluated alongside genetic testing results (prenatal and/or postnatal), associated extracardiac anomalies, and postnatal clinical and surgical outcomes. Results: Among eight fetuses prenatally diagnosed with APVS, one case was electively terminated due to major extracardiac anomalies and excluded from further analysis. All of the remaining seven cases resulted in live births. Four neonates underwent surgical intervention, three of whom survived postoperatively, yielding a surgical survival rate of 75%. Two fetuses that developed hydrops fetalis died in the early postnatal period before surgery could be performed. The overall perinatal mortality rate was 57.1%. Clinically significant genetic anomalies, including trisomy 21, 22q11.2 deletion, and a novel ABAT gene mutation detected via prenatal whole-exome sequencing, were identified in three patients (42.9%). Nonsurvivors were more likely to present with an absent ductus arteriosus and severely dilated pulmonary arteries. Conclusions: Our study highlights that prognosis is more strongly influenced by prenatal hemodynamic markers - such as pulmonary artery velocities, ductus arteriosus status, and hydrops - than by anatomic subtype. The identification of both common chromosomal anomalies and novel ABAT gene mutations underscores the value of comprehensive genetic evaluation.

The online version contains supplementary material available at 10.1007/s12055-025-02036-0.

Absent pulmonary valve syndrome: Valvular reconstruction with autologous pulmonary arterial wall.

Tetralogy of Fallot (TOF) with absent pulmonary valve syndrome (APVS) is an extremely rare variant of TOF, with a ratio of 3-6%. Significant pulmonary insufficiency due to this valvular absence promotes dilation of the pulmonary arteries, and this can lead to airway compression during intrauterine life and after birth. The degree of compression is relative to the degree of hypoplasia of the respiratory tract. The severity of the respiratory problems indicates high mortality rates. This study aimed to present the short and mid-term outcomes following surgical repair of three TOF-APVS patients. One patient also had associated Townes-Brock Syndrome, which is extremely rare by itself. On follow-up, one patient could not be separated from cardiopulmonary bypass (CPB), and she was placed on arterio-venous extracorporeal membrane oxygenator (A-V ECMO) support before she died on the 5th day post-operatively. The patient with Townes-Brock syndrome died post-operatively 3.5th months due to pulmonary complications.

Indirect arterial cannulation techniques, such as cannulation of the innominate artery (IA) using an end-to-side anastomosed vascular graft, are commonly used to establish cardiopulmonary bypass in congenital cardiac surgery. Although rare, unintended consequences, such as graft infection, may occur. We describe a case of IA graft infection with subsequent pseudoaneurysm formation in a 10-year-old child who underwent multiple procedures for Tetralogy of Fallot with absent pulmonary valve syndrome.

Infective endocarditis of the Melody valve in a patient with absent pulmonary valve syndrome

An 8-week-old, 3.4-kg infant, who was diagnosed prenatally with tetralogy of Fallot and absent pulmonary valve syndrome, was intubated after birth and failed extubation due to severe tracheobronchomalacia. He was deemed inoperable prior to being transferred to our institution. The left pulmonary artery was severely aneurysmal to the point of occupying almost the entire left upper lobe. Standard tetralogy of Fallot repair was performed together with bilateral reduction pulmonary arterioplasties and a modified Lecompte manoeuvre. No interventions were done directly to the airways. In this video tutorial, we demonstrate the technique used and the outcomes.

Context and Aim:Absent pulmonary valve syndrome (APVS) in association with tetralogy of Fallot (TOF) is a rare congenital heart disease characterized by the aneurysmal dilatation of pulmonary arteries and associated major airway anomalies. Postoperative outcomes have been suboptimal, especially concerning dependency on positive pressure ventilation and the need for repeated cardiac reinterventions. This study aims to describe the postoperative course of these patients and to identify the risk factors associated with poor outcomes.Methods and Results:A retrospective review of 38 patients who underwent surgery for TOF with APVS between 2001 and 2021 at a single cardiac center was conducted. There were 16 (42%) patients in the young infants group. They required longer postoperative mechanical ventilation, 77 (interquartile ranges [IQR] 22–306) versus 17 (IQR 6–67) hours for the older children (P-0.009); longer inotropic support, 127 (103–285) versus 60 (20–108) hours for older children (P-0.000); longer intensive care unit (ICU) stay, 12 (4–29) versus 4 (2–7) days (P-0.01), and longer hospital stay 23 (14–64) versus 15 (11–20) days (P-0.02). Seven (43%) of the younger infants’ group required readmission, whereas 4 (18%) of the older children needed to be readmitted (P < 0.04). Bloodstream infections (BSIs) occurred more frequently in the infants’ group (31%) compared to older children (4.5%) (P < 0.03). The need for redo surgeries and the incidence of hospital-acquired infections other than BSIs did not show differences between the groups.Conclusions:Age <3 months or weight <4 kg is associated with a more difficult postoperative course, characterized by longer ventilation days, a higher inotropic score, longer ICU and hospital stays, and more readmissions.

Non-Fallot Absent Pulmonary Valve Syndrome in Fetuses: Key Insights for Prenatal Diagnosis and Postnatal Care

Tetralogy of Fallot with an absent pulmonary valve is a very rare variant of tetralogy. It is characterized by absent valve tissue, severe pulmonary regurgitation, and secondary aneurysmal dilatation of the pulmonary arteries. In this study, we aim to investigate the clinical presentations, management strategies, and outcomes of patients with tetralogy of Fallot and absent pulmonary valve. We retrospectively reviewed the charts of all patients who presented to the American University of Beirut Medical Center between January 2010 and December 2020 and who were diagnosed with this anomaly. A total of 300 cases of tetralogy of Fallot were identified, of which 18 patients had absent pulmonary valves. They were followed up for an average of 8.2 years. Prenatal diagnoses were made in four patients, while 13 patients were identified in the neonatal period, with an average age of 4.5 days. Genetic testing confirmed DiGeorge syndrome in one patient. Five patients underwent surgical intervention in the neonatal period, while the remaining patients were operated on during their early childhood. While overall there were no surgical mortalities nor any need for reinterventions, a variety of morbidities were encountered. This study provides an overview of this rare anomaly and its management in a developing country.

Absent pulmonary valve syndrome (APVS) is a rare form of congenital heart defect. Among the various variations of this rare anomaly are non-confluent branches of the pulmonary artery (PA) with anomalous origin of one of the PA branches from the patent ductus arteriosus (PDA). Constriction of the PDA in early neonatal age may result in cessation of blood supply to one of the pulmonary artery branches, leading to exclusion of one lung from circulation and gas exchange processes. PDA stenting creates a reliable source of blood flow, and as a first step, an endovascular approach was chosen for treatment. Case report. A newborn (3 kg) with a prenatal diagnosis of APVS and a non-confluent left PA branch filling through PDA was chosen for PDA stenting. Considering the complex anatomy of the heart defect, it was decided to perform PDA stenting to delay total repair until the patient reaches optimal age and weight. Our patient successfully underwent PDA stenting as the first stage, which provided conditions for blood supply to one lung. The second stage involved total repair with good long-term results. Conclusion. APVS treatment may have several options of surgical correction, differing from each other depending on the anatomical features of the defect and the patient’s age. Palliative treatment options help the child transition from the neonatal period and gain optimal weight for total repair.. Analyzing the data from the presented literature, it is noted that prenatal diagnosis is an important stage in determining the urgency and choice of treatment tactics for this defect.

Absent pulmonary valve syndrome with an intact ventricular septum (APVS with IVS) is a rare congenital heart defect that is associated with a high perinatal mortality. Most fetuses can hard to survive without inotropic support or heart transplantation due to the severe respiratory dysfunction, heart failure and serious infections resulting from tracheobronchial compression and right ventricular dilation. Almost one-third of the patients opted for a termination of pregnancy. The etiology of APVS patients is still unknown. Previous research only noted an enhancement in the long-term survival of APVS with tetralogy of Fallot patients over the past decade. However, the timeliness of surgical intervention and survival status in APVS with IVS patients remains unclear. In our case, we described a 27-year-old patient with a rare combination of the rudimentary pulmonary valve, intact ventricular septum and absent superior vena cava who successfully developed biventricular physiology without any medical intervene. And he received a timely pulmonary valve implantation in our centre to prevent further right ventricular dysfunction. Thus, we highlighted that biventricular circulation can be successfully achieved in this rare subtype of APVS with IVS patients. However, more multicentre studies and lifelong follow-up are required to determine the timeliness for pulmonary valve surgery to avoid over-dilatation of the right ventricle in APVS with IVS patients.

Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large malalignment ventricular septal defect, (2) an obstruction of the right ventricular outflow tract (usually infundibular and valvular pulmonary stenosis with a small pulmonary valve annulus and supravalvular stenosis, (3) an aorta that "overrides" the ventricular septal defect, and (4) right ventricular hypertrophy. TOF represents 4-8% of congenital heart defects. Specific variations of TOF include all forms of pulmonary atresia with VSD and absent pulmonary valve syndrome. In addition, the left and right main pulmonary arteries may be stenotic or hypoplastic. In these cases, there may be major aortopulmonary collateral arteries (MAPCAs) which are vessels arising from the aorta or the subclavian arteries that supply segments of the pulmonary arterial tree. Additional variations include an ASD (Pentalogy of Fallot), a right aortic arch, and coronary abnormalities.

Congenital heart disease (CHD) is one of the most common organ-specific birth defects and a major cause of infant morbidity and mortality. Despite ultrasound screening guidelines, the detection rate of CHD is limited. Fetal intelligent navigation echocardiography (FINE) has been introduced to extract reference planes and cardiac axis from cardiac spatiotemporal image correlation (STIC) volume datasets. This study analyses the cardiac axis in fetuses affected by CHD/thoracic masses (n = 545) compared to healthy fetuses (n = 1543) generated by FINE. After marking seven anatomical structures, the FINE software generated semi-automatically nine echocardiography standard planes and calculated the cardiac axis. Our study reveals that depending on the type of CHD, the cardiac axis varies. In approximately 86% (471 of 542 volumes) of our pathological cases, an abnormal cardiac axis (normal median = 40-45°) was detectable. Significant differences between the fetal axis of the normal heart versus CHD were detected in HLHS, pulmonary atresia, TOF (p-value < 0.0001), RAA, situs ambiguus (p-value = 0.0001-0.001) and absent pulmonary valve syndrome, DORV, thoracic masses (p-value = 0.001-0.01). This analysis confirms that in fetuses with CHD, the cardiac axis can significantly deviate from the normal range. FINE appears to be a valuable tool to identify cardiac defects.

EP24.28: Tetralogy of Fallot with absent pulmonary valve syndrome: the first case to be reported in Colombia

A Fetus with Tetralogy of Fallot with Absent Pulmonary Valve Syndrome.

Agénésie de la valve pulmonaire avec communication interventriculaire découverte à l'âge adulte suite à une endocardite infectieuse : à propos d'un cas

Background:The aim of this study is to review the spectrum of the prenatally detected absent pulmonary valve syndrome and its outcome after diagnosis.Methods:Clinical data and echocardiographic findings of 37 cases with a fetal diagnosis of absent pulmonary valve syndrome between 2008 and 2020 were analyzed in this retrospective multicenter study.Results:Median gestational age at diagnosis was 25 weeks. Three subtypes of absent pulmonary valve syndrome were observed: (1) with tetralogy of Fallot (n = 30; 81.0%); (2) absent pulmonary valve syndrome with intact ventricular septum (n = 5; 13.5%); (3) with complete atrioventricular septal defect (n = 2; 5.4%). In contrast to 7/25 fetuses (28%) with tetralogy of Fallot-absent pulmonary valve syndrome who had a patent ductus arteriosus, all 5 fetuses with absent pulmonary valve syndrome-intact ventricular septum had a patent ductus arteriosus (P < .001). No significant difference was found between the z-scores of pulmonary artery branches in fetuses with or without patent ductus arteriosus (P > .05). The analysis did not reveal any correlation between gestational week and z-scores of pulmonary artery, pulmonary artery branches (right pulmonary artery, left pulmonary artery), and ratio of aorta/pulmonary artery ratio. The echocardiographic measurements of survivors did not differ significantly from non-survivors (P > .05). Extracardiac anomalies were observed in 8/37 fetuses (21.6%). The incidence of extracardiac anomaly was significantly higher in cases of tetralogy of Fallot-absent pulmonary valve syndrome (P < .05). Overall, 9 fetuses (24%) had genetic anomalies. All 6 fetuses (20%) with 22q11.2 microdeletion were within the tetralogy of Fallot-absent pulmonary valve syndrome group. Overall survival after initial diagnosis in the total cases was 36.6% (11/30), with 9 of 30 (30%) tetralogy of Fallot-absent pulmonary valve syndrome cases and 2 of 5 (40%) absent pulmonary valve syndrome-intact ventricular septum cases.Conclusions:In this largest series of absent pulmonary valve syndrome, extracardiac, and chromosomal anomalies were found to be a common occurrence. The risk of 22q11.2 microdeletion was higher in tetralogy of Fallot cases at 40%. The sizes of the pulmonary artery and its branches and the aorta had no correlation of high mortality antenatally or after birth, which were 63.4% and 47.7%, respectively.

Absent pulmonary valve syndrome (APVS) is seen in around 3 to 6% of tetralogy of Fallot (TOF) patients. They present in the neonatal or infantile period with respiratory compromise, cardiac failure, or cyanosis. They rarely survive into adulthood with only few reports published in literature so far. In this report, we present an adult patient with TOF and APVS, who underwent a successful repair with prosthetic valve implantation.

Surgical approach with reduction pulmonary artery plasty and valved conduit in patients with respiratory compromise prior to repair is associated with excellent long-term survival at the cost of a higher reintervention rate.OBJECTIVESAbsent pulmonary valve syndrome is a rare congenital heart defect with pulmonary artery dilatation and secondary airway compression. Although preoperative respiratory support and early surgical repair with pulmonary arterioplasty are often required in patients with airway compromise, the need for extensive plasty in these patients and for plasty in general in those with no or mild respiratory issues remains debatable.METHODSWe performed a retrospective survey of patients with this diagnosis and repair from 1988 to 2018.RESULTSTwenty patients were identified. The median age and weight at repair were 0.8 (0.1–2.4) years and 7.0 (2.5–13.8) kg and included a valved conduit in 17 (85%) patients and a transannular patch in 3 patients. Five (29%) patients were ventilator-dependent prior to repair at the age of 0.3 (0.1–0.4) years. Pulmonary arterioplasty was performed in 7 patients (35%), including all 5 with ventilator dependency and 2 with respiratory symptoms due to recurrent infections. Two patients (10%) with preoperative ventilator dependency underwent extensive intrahilar arterioplasty. Preoperative ventilator dependency was associated with earlier repair and reinterventions (P < 0.05). There were 3 late deaths among cases with repair after 2000 (n = 14), none with preoperative ventilator dependency.CONCLUSIONSThe long-term outcomes of patients with this rare defect are good, comparable to those of other previous studies. Reduction pulmonary arterioplasty, which in this study was used only in patients with respiratory distress and ventilator dependency, is associated with excellent survival. Reinterventions are common in these patients.