A Rare Case: Tetralogy of Fallot with Pulmonary Valve Agenesis and Respiratory Insufficiency
Fjorba Mana *1, Adelina Musliu 1, Habtamu Mulleta 3, Marsela Goga 2, Altin Veshti1
1. Service of Cardiac Surgery, University Hospital Center “Mother Theresa,” Tirana, Albania
2. Service of Anesthesiology & ICU, University Hospital Center “Mother Theresa,” Tirana, Albania
3. Pediatric Cardiac Surgery Department, Regina Margherita Children's Hospital, Turin, Italy.
*Correspondence to: Fjorba Mana, Service of Cardiac Surgery, University Hospital Center “Mother Theresa,” Tirana, Albania.
© 2026 Fjorba Mana. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Received: 25 February 2026
Published: 01 August 2026
DOI: https://doi.org/10.5281/zenodo.21714809
Abstract
Tetralogy of Fallot is the most common cause of cyanotic heart disease and may occur at a rate of 1-3 cases per 1000 live births. Tetralogy of Fallot (TOF) occurring along with the absent pulmonary valve syndrome (APVS) is a rare congenital cardiac malformation. APVS is detected in 3-6% of TOF patients. When APVS is associated with a ventricular septal defect, the physiologic and anatomic repercussions affect both ventricles, and cardiac performance can be critically impaired.[1] Apart from cardiac complications most of the infants develop complications secondary to respiratory distress. Respiratory distress is usually secondary to compression of bronchi by dilated pulmonary arteries. The prognosis depends on the respiratory complications too.[2]
We report on a 1 year and 24 days old female child on her 5th post operative month after surgery was done for: TOF with Pulmonary valve agenesis, respiratory insufficiency and Di George syndrome. At the age of 7 and half months she underwent surgery that consisted in closure of the VSD with heterologous pericardial patch. Reconstruction of the right outflow tract with a heterologous pericardial transannular patch. And under bronchoscopy control pulmonary traction was performed on the pulmonary trunk with sutures placed at the level of bifurcation and the trunk itself.
The aim of this case report is not only to establish how accurate imaging is in reaching a correct diagnosis and in detecting the presence of associated anomalies but also to draw attention to the timing of surgery, and the importance of clinical symptoms defining when to conduct surgery.
Keywords: absent pulmonary valve syndrome, tetralogy of Fallot, VSD, Bronchial compression.
Introduction
The combination of TOF with absent pulmonary valve, also referred to as absent pulmonary valve syndrome (APVS), was first described by Chevers in 1847 . [3] It is a relatively rare cardiac malformation, with approximately 3% of patients with tetralogy of Fallot having the absent pulmonary valve syndrome [1].
The APVS is divided into two types by research experts. These consist of (a) APVS with VSD (otherwise called Fallot type APVS) and (b) APVS with intact ventricular septum and the possibility of tricuspid atresia (otherwise called Non-Fallot type APVS). The majority of the cases are of Fallot type APVS [2]. About 0.2–0.4 percent of infants with CHD have Fallot type APVS along with congenital heart disease. The non-Fallot type of APVS rarely occurs and the origin remains unknown.
After birth, 40–50% of individuals have obstructive ventilation problem indicators, for example: stridor, respiratory failure, tachypnea, and intercostal retractions. Patients are presented in two well-defined groups. First, in the neonatal period with severe respiratory symptoms due to tracheobronchial compression, morbidity and mortality is high [4, 5]. The second group comprises older children whose respiratory symptoms are less severe; the combination of pulmonary insuficiency and a predominant left-to right shunt may cause congestive heart failure, whereas children with a predominant right-to-left shunt tend to suffer from hypoxic spells. Growth and development are usually normal and repair can be performed on an elective basis with low risk [6,7,8].
Clinical symptoms define the timing of when to conduct surgery, such as patients will be subjected to surgery at the age of 3–6 months if the sign of bronchial compression is absent [9]. Patients who have a large VSD and bronchial compression should be treated sooner before the development of bronchomalacia.
Case Report
We report 1 year and 24 days old female child on her 5th post operative month after surgery was done for: TOF with Pulmonary valve agenesis + Respiratory insufficiency + Di George syndrome.
Absent pulmonary valve syndrome has been reported in association with chromosomal abnormalities that involve chromosomes 6 and 7, as well as in association with a deletion of chromosome 22 and DiGeorge syndrome in about 25% of cases. [8, 9, 10] Two large studies have described genetic abnormalities in 40-46% of cases, with 22q11 deletion syndrome being the most common and noted in 35% of cases. [2, 3,10]
A prenatal diagnosis of Tetralogy of fallot with pulmonary agenesis was made. At 24+1 week of gestation was given RDS prophylaxis. The chromosome 22 delation test from maternal sample resulted in: Ep13.2 interstitial microduplication that was not associated with a clinical phenotype and 22q11.21 interstitial microdeletion: associated with 22q11.2 deletion syndrome or formerly known as DiGeorge syndrome . The neonate was born at 36+4 through emergency C/S due to Polydramnios.
Apgar at 1st and 5th Minutes 8 and 10 respectively, birth weight was 2600g. The baby was supported with CPAP at birth and transferred to cardiology ward after hours of observation. In transthoracic echocardiography was detected Pulmonary Valve agenesis with maximum anterograde gradient of 80mmHg and free insufficiency, pulmonary artery dilated with a dimension of 15mm.Left pulmonary artery brach larger than the right ( 8mm and 5mm ) respectively. Dexstroposed aortic arch with normal flow.The baby was discharged after a week of stay in the hospital in good conditions. Cardiology and neurologic follow-up visit was set after 3 months .
During cardiology follow up visit the patient was slightly pale and markedly polypneic, with systolic and diastolic murmurs on the left sternal border, but no other relevant alterations on physical examination . Right axis deviation was noticed on ECG. Echo findings right ventricle slightly dilated with good contraction globally, a small PFO with left to right shunt noticed and a large VSD with overiding aorta and exclusively left to right shunt.Anterior deviation of the conal septum and no subpulmonary obstruction was detected . we could also see a light insufficiency of the tricuspid valve . It was important the pulmonary agenesis with 7mm diameter of the annulus and maximum anterograde gradient of 78mmHg, dilated and hyperpulsatile pulmonary trunc with a dimension of 20mm and right pulmonary artery branch 6.5mm and the left one 10mm. Ductus arteriosus was closed.
TAC resulted in dilatation of left pulmonary branch with compression of left main bronchus. Large subaortic ventricular septal defect of 9mm diameter. Dilated pulmonary trunc with a dimension of 20*18.5 mm at a distance of 1cm from the valvular plane.Right pulmonary artery with a normal size of 7.5*8mm). Left pulmonary artery dilated until the origin of the lobar branches with a dimension of 23*23 mm. Normal calibre and dimension of the trachea. Left main bronchus with a reduced calibre due to extrinsic compression which extends about 1cm from the branching and normal branching afterwards.Hypodensity of the left lung parenchyma.
After staying on a regular follow-up and Synagis prophylaxis the baby presented to the emergency department with drowsiness, polypnea, low urine output and loss of appetite at the age of 7 and half months.She had SARS-COV2 infection 2 weeks before this presentation and had a negative result to the control swab 5 days before this presentation.On the chest x-ray performed she had hyperflow to the right lung and hypodiaphania of the left lung.The patient was admitted to the cardiology intensive care unit andunderwent surgery after 6 days in the `ICU.
The baby underwent surgical intervention through median sternotomy , she had severe tymic hypoplasia. The operation was performed by cardiopulmonary bypass with aorto bicaval cannulation at esophageal temperature of 32oC. The VSD was closed through right atrial approach with heterologous pericardial patch. An incision of the right ventricular infundibulum through the annulus up to the pulmonary bifurication and large muscle resection was performed to release the right ventricular outflow path . The pulmonary branches were preparated . The right outflow tract WAS reconstructed with a heterologous pericardial transannular patch with prolene 5/0.Atrial septectomy and closure of the deffect with a heterologous pericardial patch and creation of a 2mm fenestration was done.Under bronchoscopy control traction was performed on the pulmonary trunk with sutures placed at the level of bifurcation and the trunk itself. Traction point anchored to the concavity of the aortic arch adjaocent to the left main bronchus. The patient left the operating room on Venovenous ECMO due to poor ventilatory parameters . She weaned off ECMO after 6 days and was extubated after 15 days. The patient was discharged after a couple of weeks in good conditions on furosamide, Clenil spray and N-acetylcystine. Right pulmonary branch slightly bigger than the left , 8mm and 6mm respectively was found on the ECHO before discharge.
Discussion
APVS is characterized by absent pulmonary valve leaflets, absence/stenosis of the pulmonary annulus, and dilatation of the pulmonary artery.
Today, the etiology of APVS is still unclear. Becker et al. [11] hypothesized that reduced diastolic pressure due to an absent diastolic closure of the pulmonary valve combined with a nonrestrictive ventricular septal defect, might result in early intrauterine closure of the arterial duct between 14 and 21 gestational weeks. In contrast, some authors have proposed that the underdevelopment of the pulmonary valve leaflets could cause ductal agenesis, or vice versa. Others have postulated that 80–90% of fetuses with APVS and TOF have a DA, as is the case for TOF in general, in addition this subset of fetuses is likely to miscarry early in gestation due to massive aorto-pulmonary shunting and biventricular overload [12,13]. Again, the large cohorts available do not conclusively reveal the pathophysiology of APVS. Aneurysmal dilatation of the pulmonary arteries [14,15] and its resultant tracheobronchial compression, which causes air-trapping and poor clearance of secretions predisposing to recurrent infections, is considered the main element responsible for the morbidity of this malformation Furthermore, the reports by Momma et al. and Rabinovitch et al. of the presence of bronchial deformities and smaller diameters than normal suggest an involvement of the bronchial tree as part of the syndrome [14, 15,16].
Debate continues regarding the appropriate surgical strategy for the infant group presenting with progressive severe airway obstruction, with protagonists of complete repair arraging themselves against those proposing either palliative or even second-stage procedures [2,6,17,18,19].
Relief of airway obstruction by extensive aneurys -morrhaphy has been proposed as the primary surgical approach, asserting this to be more important than establishing pulmonary valvular competence [20, 21]. Reduction in the central pulmonary artery diameter reduces the pulmonary artery wall tension and thereby reduces the hardness felt by the main bronchi (La Place Principle). Despite adequate aneurys-morrhaphy, some infants continue to deteriorate, abnormal development of the lung and its vasculature being a possible explanation [7, 15].
The combination of a large VSD and only mild pulmonary stenosis generally results in a left-to-right shunt once the neonatal elevated pulmonary resistance decreases. Infants with a predominant left-to-right shunt may suffer from cyanosis and hypoxic spells. Even in this group, the timing and procedure of choice remains the subject of debate. The basis for the controversy stems from the fact that pulmonary regurgitation may vary considerably in extent, is difccult to quantitate, and has yet to be proven to have a haemodynamically signicant deleterious effect [7]. Watterson et al. [21] state that valve insertion at the time of primary operation may reduce the incidence of reoperation, by protecting the right ventricle against the long-term effects of free pulmonary incompetence. On the other hand, a small conduit will require replacing at least once in long-term survivors.
McCaughan et al. [22] assert that, for these minimally symptomatic patients, it is not necessary to insert a pulmonary valve. Pinsky et al. [23] recommend valve insertion only in the presence of pulmonary hypertension. Ilbawi et al. [24], however, recommend pulmonary valve insertion at the primary intracardiac repair, as it will effectively control pulmonary regurgitation, preserve the contractile characteristics of the right ventricle as well as the diastolic recoil pumping action of the central pulmonary arteries.
Karl et al. and Snir et al. [7, 8] all favour reduction of the size of the pulmonary arteries as part of the total correction. However, McCaughan et al. believe that aneurysmorrhaphy is unnecessary in older children [22].
Our experience with infants with this lesion is limited and does not permit us to make any recommendations . However, from our experience and review of the literature, our current approach would be for:
Conclusion
In a large retrospective work over a 25-year period, Norgaard et al. [25] showed that patients undergoing repair of APVS have a 79% chance of 5-year survival. Therefore, larger and more prospective study analyses are needed to better examine the follow-up periods of fetuses and children after a prenatal diagnosis of APVS. The postnatal course, in particular, has to be investigated in connection with an early prenatal diagnosis. There is a need for longterm follow-up studies in the future to provide information about the pathophysiology, the prenatal, and clinical outcomes of this disease.
Conflicts of interest
The authors have no conflicts of interest to declare.
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