We describe the echocardiographic findings of a common arterial trunk with intact ventricular septum, mitral and left ventricular hypoplasia, atretic left ventricular outlet and bilateral, and unbalanced pulmonary artery stenoses.

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.

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.

In this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities. By describing our patient, we aim to create awareness of this rare association.

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 a case of pulmonary atresia with intact ventricular septum, but in the setting of transposed great arteries, and thus the left rather than the right ventricle was hypoplastic.

Between February 1986 and December 1991, 41 patients with pulmonary atresia and intact ventricular septum were treated in our institution following a multistage protocol of management. In all cases, the first step was to construct a right modified Blalock-Taussig shunt during the neonatal period regardless of the right ventricular anatomy. Then, in patients with well-developed right ventricles possessing all three components, we proceeded to early surgical repair. In contrast, in patients with right ventricles having obliteration of some components, yet deemed to be recoverable, the next step was to provide palliative relief of obstruction in the right ventricular outflow tract followed, if possible, by subsequent repair. Fontan's operation was performed in patients with right ventricles considered unsuitable from the outset to support the pulmonary circulation. Only one patient died following the initial shunt procedure (mortality of 2.43%). The subsequent program of treatment has now been concluded in 22 patients. In all those deemed to have favorable native anatomy (10 cases), the subsequent complete repair was successful. Among the 24 patients who required palliation of the outflow tract, five died while total repair was subsequently performed in eight. Fontan's operation was performed without mortality in five patients with small right ventricles, although one patient died while waiting for surgery. In all, 89 procedures were performed with an overall mortality of 14%.

We describe a new method of transvenous laser or radiofrequency perforation of the pulmonary valve with subsequent balloon pulmonary valvoplasty. The technique obviates the need for arterial catheterisation and considerably shortens the time needed for the procedure. Uncomplicated and successful relief of pulmonary valvar atresia was achieved in both patients attempted, although one ultimately required a Blalock-Taussig shunt because of increasing muscular obstruction of the right ventricular outflow tract.

A rare case of double-outlet right ventricle with intact ventricular septum diagnosed by foetal echocardiography at 21 weeks of gestation is described. Amniocentesis revealed trisomy–18. The cardiac diagnosis was confirmed at autopsy.

So-called ‘absent pulmonary valve syndrome’ is a rare cardiac malformation, usually associated with tetralogy of Fallot. Congenital absence of the leaflets of the pulmonary valve is less common when the ventricular septum is intact. Characteristic features of the syndrome include dysplasia or absence of the pulmonary valvar leaflets, permitting severe pulmonary regurgitation, and aneurysmal dilation of the pulmonary arteries. The purpose of our study was to review our experience with patients diagnosed as having the absent pulmonary valve syndrome, and to describe their clinical presentation, natural history, and outcome. We reviewed retrospectively data from 18 patients with absent pulmonary valve syndrome, 10 boys and eight girls, treated between March 1983 and May 2003. We identified two groups of patients, one made up of 11 patients with a ventricular septal defect, in whom the morphology of the subpulmonary outflow tract was phenotypic for tetralogy of Fallot, and another group, with seven patients, having an intact ventricular septum. Family history of congenital heart disease was common only in patients with ventricular septal defect, being found in 73%, all of whom were diagnosed during infancy with variable respiratory distress. Diagnosis was delayed in 43% of the patients with an intact ventricular septum. Cardiac surgery was performed in eight patients with ventricular septal defect (73%), compared to only two patients (28%) with an intact ventricular septum. Overall mortality was 28%, with five patients dying. Although our sample was small, two clinical patterns emerged depending on the presence or absence of a ventricular septal defect. Patients with a ventricular septal defect and phenotypic features of tetralogy of Fallot have a strong family history of congenital cardiac disease, develop respiratory symptoms during infancy and exhibit a variable prognosis, despite cardiac surgery. Patients with an intact ventricular septum are usually asymptomatic, present later in life, and show a relatively benign prognosis.