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.

The risk factor based approach in asymptomatic infants cannot be justified. In-hospital observation of asymptomatic infants for 2-3 days with antibiotic treatment being reserved only for symptomatic infants may be a reasonable alternative.

Aim: To investigate the correlation between transcutaneous bilirubinometry (TcB) and total serum bilirubin (TsB) in jaundiced infants before and after, but not during phototherapy. Methods: This study prospectively investigated the correlation between TcB and TsB in term and near term infants before and after phototherapy. Results: Overall 673 pairs of measurements (TcB and TsB) were performed on 371 infants of ≥35 weeks gestation and with birth weight above 2000 g. Of these 337 sets were from 200 infants who had not been treated with phototherapy (Group 1) and 336 measurements from 171 infants taken between 1 h and 5 d after phototherapy (Group 2). The correlation coefficient between TcB and TsB in the whole cohort was r = 0.72. The correlation was low during the first 8 h after phototherapy (r = 0.56), but thereafter the correlation returned to the range of 0.65-0.8. Using the Sobel test, no significant difference was found between the correlation coefficients at the different time periods, with the possible exception of the difference between 1 and 8 h and 9 and 16 h which was of borderline significance with a p value of 0.06. Conclusion: This study demonstrates good correlation between TcB and TsB by 8 h after phototherapy. This adds validity to community-based screening programs employing TcB measurements plotted on TsB nomograms. Such programs may contribute to prevention of tragic cases of bilirubin-induced neurologic damage.

The inability to appropriately ventilate neonates shortly after their birth could be related in rare cases to chest-wall rigidity caused by the placental transfer of fentanyl. Although this adverse effect is recognized when fentanyl is administered to neonates after their birth, the prenatal phenomenon is less known. Treatment with either naloxone or muscle relaxants reverses the fentanyl effect and may prevent unnecessary excessive ventilatory settings.