Objectives: To assess the short-and long-term outcomes of balloon pulmonary valvuloplasty (BPV) in children with Noonan syndrome (NS).Background: Pulmonary stenosis (PS) is the most common congenital heart lesion in NS. BPV is the accepted first line treatment in PS. However, BPV in NS patients has been reported to be less effective, without specific factors for the need for reintervention being identified.Methods: Retrospective case-note review of all patients with NS who underwent BPV between 1985 and 2020. Patients were divided into 2 groups: those with supravalvular pulmonary stenosis (SPS) in addition to valvar PS, and those with isolated valvar PS.Results: A cohort of 54 patients with NS underwent BPV at a median of 275 (interquartile range [IQR]: 108-575) days of age. SPS was present in 32 (59%) patients whereas 22 had (41) isolated PS. The preprocedural invasive gradient was 47 (IQR: 35-69) mmHg, and 44 (IQR: 35-48) mmHg in those with SPS and those without respectively (p = 0.88). Reintervention was required in 22 patients (41%): 17 (77%) with SPS and 5 (23%) without (p = 0.017). Fourteen patients (11 with SPS) required surgical reintervention and 8 (6 with SPS) required further BPV. There was no significant difference in the age at initial BPV, pre-and postprocedural gradients and interval until reintervention between groups.Conclusion: This is the largest reported cohort of patients with NS undergoing BPV.Although BPV is often successful, the reintervention rates are high. SPS was a risk factor for reintervention.

Introduction: Exomphalos is an anterior abdominal wall defect resulting in herniation of contents into the umbilical cord. Severe associated chromosomal anomalies and congenital heart disease (CHD) are known to influence mortality, but it is not clear which cardiac anomalies have the greatest impact on survival. Methods: We performed a retrospective review of the treatment and outcome of patients with exomphalos over a 30-year period (1990–2020), with a focus on those with the combination of exomphalos major and major CHD (EMCHD). Results: There were 123 patients with exomphalos identified, 59 (48%) had exomphalos major (ExoMaj) (defect > 5 cm or containing liver), and 64 (52%) exomphalos minor (ExoMin). In the ExoMaj group; 17% had major CHD (10/59), M: F 28:31, 29% premature (< 37 weeks, 17/59) and 14% had low birth-weight (< 2.5 kg, 8/59). The 5-year survival was 20% in the EMCHD group versus 90% in the ExoMaj with minor or no CHD [p < 0.0001]. Deaths in the EMCHD had mainly right heart anomalies and all of them required mechanical ventilation for pulmonary hypoplasia prior to cardiac intervention. In contrast, survivors did not require mechanical ventilation prior to cardiac intervention. Conclusion: EMCHD is associated with high mortality. The most significant finding was high mortality in those with right heart anomalies in combination with pulmonary hypoplasia, especially if pre-intervention mechanical ventilation is required.

Introduction: The association of a univentricular heart defect with common arterial trunk is extremely rare. There is a lack of population-based outcome studies reported in the literature. Methods: The hospital records, echocardiographic and other imaging modality data, outpatients’ records, operation notes, and other electronic data were reviewed. Patients were reviewed, and the final outcomes of surgery were observed. Results: Six cases (two males) with common arterial trunk presented over a 30-year period. Five had a complete unbalanced atrioventricular septal defect (83%) and one (17%) had tricuspid atresia associated with common arterial trunk. All had antenatal diagnosis. Two cases (33%) were excluded from initial surgical palliation due to Trisomy 21 in one and severe truncal valve regurgitation in one. Initial surgical palliation was performed in four cases (67%) at median age of 31 days (2–60) and consisted of disconnection and reconstruction of the pulmonary arteries and establishing controlled pulmonary blood flow. There were no early deaths. Conversion to cavopulmonary shunt was not possible in two due to severe airway problems in one and pulmonary arteries anatomy in one. They died at 11 and 16 months, respectively. Two patients (33%) underwent cavopulmonary shunt with 1 (17%) being alive at 18 months – 12 months after cavopulmonary shunt. The second patient proceeded to Fontan completion at 19 months but required catheter takedown 3 months later and died 3.5 years later. Conclusions: Univentricular hearts with common arterial trunk carry extremely poor short- to medium-term outcomes. This should inform antenatal and postnatal counselling and decision-making.