Combined tricuspid atresia and absent pulmonary valve with dysplasia of the right ventricular myocardium is a very rare congenital heart anomaly with a poor prognosis. We present three cases of this rare disease that reached the Fontan operation without prior surgical intervention of the right ventricle or pulmonary artery; no right ventriclar dilation was detected. All patients had uneventful post-operative courses.

16p12.2 microdeletion has been associated with congenital heart defects and developmental delay. In this case, we describe the rare association between tetralogy of Fallot with an absent pulmonary valve a right-sided aortic arch and a retro-aortic innominate vein associated with a 16p12.2 microdeletion and epilepsy.

Tricuspid atresia with absent pulmonary valve and intact ventricular septum is an extremely rare cardiac malformation, historically associated with a poor prognosis. Only a few cases with successful surgical palliation have been reported in the literature. We present the case of an 8-month-old infant with this malformation who underwent successful bidirectional cavopulmonary anastomosis with complete exclusion of the right ventricle.

Absent pulmonary valve with an intact ventricular septum is a rare malformation. We report a case of absent pulmonary valve and intact ventricular septum with functional near-tricuspid atresia caused by pulmonary regurgitation. Initial palliation with main pulmonary artery ligation and bilateral pulmonary artery banding was performed at 1 day of age. More antegrade flow across the tricuspid valve was recognised postoperatively, resulting in a successful right ventricular outflow tract reconstruction by a hand-sewn bileaflet polytetrafluoroethylene valve and modified Blalock–Taussig shunt at 11 days of age.

We report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient’s sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.

We report a unique case of compression of the superior caval vein by an aneurysmal right pulmonary artery in a patient with tetralogy of Fallot with absent pulmonary valve.

Although clinically silent in the majority of cases, enlarged bronchial arteries or systemic-to-pulmonary collateral arteries may complicate congenital heart disease in infants, causing significant left-to-right shunting with subsequent pulmonary congestion and respiratory compromise. So far, pulmonary haemorrhage, a well-known complication in older patients with cyanotic congenital heart disease, has not been described in infancy. We describe the case of a 6-month-old girl with tetralogy of Fallot and absent pulmonary valve who developed haemoptysis with severe respiratory distress following corrective surgery of the cardiac malformation. High-resolution computed tomography of the thorax followed by selective angiography revealed a systemic-to-pulmonary collateral artery originating from the left internal mammary artery. Pulmonary haemorrhage stopped immediately following coil occlusion of the collateral. A second episode of pulmonary haemorrhage occurred at the age of 9 months during mechanical ventilation for treatment of pneumonia. Repeat angiography revealed two more collateral vessels. Again coil occlusion resulted in prompt resolution of pulmonary haemorrhage. According to our experience, enlarged bronchial arteries or systemic-to-pulmonary collateral arteries should be considered in infants with cyanotic heart disease with unexplained pulmonary congestion or prolonged respiratory problems.

So as to understand better the pathogenesis of enlargement or hypoplasia of pulmonary arteries in congenital heart disease, we studied the dimensions of the pulmonary arteries in 74 fetuses with congenital heart disease induced by administration of bis-diamine to pregnant rats. The congenital malformations induced included 12 with large ventricular septal defect, 17 with tetralogy of Fallot, 15 with tetralogy together with severe valvar pulmonary stenosis and absence of the arterial duct, 17 with tetralogy with absent pulmonary valve syndrome and absence of the arterial duct, and 13 with common arterial trunk with a confluent segment supplying the pulmonary arteries. For comparison, 16 fetuses of the same gestational age with normal hearts were studied. After rapid whole-body freezing on the 21st day of gestation, the fetuses were studied by means of serial cross-sectional photographs of the thorax. The diameter of the right pulmonary artery of the fetus was of comparable dimensions in the normal hearts (480±10 µm) (mean±SEM), those with ventricular septal defects (470±10 µm), common arterial trunk (520±20 µm), and tetralogy of Fallot (500±10 µm). These findings suggest that the commonly observed enlargement of the right pulmonary artery in patients with ventricular septal defect and common arterial trunk, and hypoplasia of the right pulmonary artery in tetralogy of Fallot, occur postnatally in response to abnormal postnatal pulmonary blood flow.

A rare association of ‘absent pulmonary valve’ syndrome, midmuscular ventricular septal defect and aneurysmatic dilation of the ascending aorta without pathology of the aortic valve is described in a 10-month-old infant. The diagnosis was established by echocardiography and angiography.

A seven-month-old boy with severe respiratory distress because of absence of the leaflets of the pulmonary valve underwent banding of the pulmonary trunk. Postoperative recovery was uneventful with dramatic improvement of his general and hemodynamic status. Repair was performed successfully almost two years later when the child had grown satisfactorily and was in stable condition.

Tetralogy of Fallot with absence of the leaflets of the pulmonary valve is often complicated by marked respiratory involvement. Newer imaging modalities such as magnetic resonance imaging and color Doppler echocardiography underscore the inter-relationship of the cardiorespiratory systems in this disorder.

Five infants under three months of age with tetralogy of Fallot and absence of the leaflets of the pulmonary valve were successfully corrected using a one-stage repair. All patients suffered from respiratory failure preoperatively and surgery was performed somewhat urgently. The age at surgery ranged from 26 to 72 days, with an average of 47±17 days. The surgical procedures involved four steps. First, we plicated the aneurysmally dilated central pulmonary arteries. Second, we closed the ventricular septal defect. We then inserted a handmade heterograft pericardial valve at the site of the pulmonary valve, and completed the reconstruction of the right ventricular outflow tract with a patch. All patients survived. Two of them were successfully weaned from ventilation at early (two and 11 days, respectively) periods after surgery, but the remaining three patients required artificial ventilation for one to two months. We conclude that one-stage repair is possible for this anomaly, but that plication of the pulmonary trunk is an essential technique todeliver patients in early infancy from respiratory failure.

We present an unusual case of criss-cross heart with supero-inferior ventricles, double outlet of the right ventricle, restrictive ventricular septal defect, severe infundibular stenosis and “absent” pulmonary valve who underwent successful surgical repair. Complete preoperative diagnosis was established with cross-sectional echocardiography combined with colour Doppler and angiocardiography, which facilitated successful surgical correction.

Two infants, aged eight days and four months, with tetralogy of Fallot and absence of the leaflets of the pulmonary valve, presented with acute respiratory distress and congestive heart failure. Primary repair was performed using a cryopreserved pulmonary arterial homograft. Both infants survived and are doing well three and two years later. A review of the surgical procedures attempted in this symptomatic group of patients is presented together with a discussion of the pathophysiology of this defect.