Objective: To assess the accuracy of prenatal diagnosis, the association with genetic and extracardiac anomalies, and outcome in fetuses with isolated pulmonary atresia with ventricular septal defect (PA-VSD). Design and setting: Retrospective study in a tertiary centre for fetal cardiology. Patients and outcome measures: Echocardiographic video recordings of 27 consecutive fetuses with PA-VSD were reviewed for: (1) intracardiac anatomy; (2) presence of confluence and size of the branch pulmonary arteries; (3) source of pulmonary blood supply; and (4) side of the aortic arch. Postmortem and postnatal data were added. Karyotyping was performed in 25 patients and, in 23 of these, fluorescent in situ hybridisation to identify 22q11.2 deletion. Results: PA-VSD was correctly diagnosed in 19 of 21 patients (90%) with postnatal or autopsy confirmation of diagnosis. Central pulmonary arteries were correctly identified in 79% (15/19), the source of pulmonary blood supply in 62% (13/21) and major aortopulmonary collateral arteries in 44% (4/9). Aneuploidy was detected in 4 of 25 patients (16%) and 22q11.2 deletion in 6 of 23 patients (26%). Five of 27 patients (19%) had extracardiac anomalies. Eleven pregnancies were interrupted. Eleven of 16 liveborn babies survived. Neonatal survival was 15 of 16 (94%, 95% confidence interval (CI) 70 to 100), one-year survival was 9 of 12 (75%, 95% CI 43 to 95) and two-year survival was 5 of 9 (56%, 95% CI 21 to 86). Conclusion: PA-VSD can be diagnosed by fetal echocardiography with a high degree of accuracy. However, it can be difficult to determine the morphology of the central pulmonary arteries and to locate the source of pulmonary blood supply. In most liveborn infants, complete surgical repair can be achieved.

BackgroundThe molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new cause of adult-onset PAH. However, the contribution of ATP13A3 risk alleles to child-onset PAH remains largely unexplored.Methods and resultsWe report three families with a novel, autosomal recessive form of childhood-onset PAH due to biallelic ATP13A3 variants. Disease onset ranged from birth to 2.5 years and was characterised by high mortality. Using genome sequencing of parent–offspring trios, we identified a homozygous missense variant in one case, which was subsequently confirmed to cosegregate with disease in an affected sibling. Independently, compound heterozygous variants in ATP13A3 were identified in two affected siblings and in an unrelated third family. The variants included three loss of function variants (two frameshift, one nonsense) and two highly conserved missense substitutions located in the catalytic phosphorylation domain. The children were largely refractory to treatment and four died in early childhood. All parents were heterozygous for the variants and asymptomatic.ConclusionOur findings support biallelic predicted deleterious ATP13A3 variants in autosomal recessive, childhood-onset PAH, indicating likely semidominant dose-dependent inheritance for this gene.

Objective: To evaluate the diagnosis, clinical features, management and post-natal follow-up in consecutive fetuses identified with tachycardia. Methods: We reviewed consecutive fetuses with tachycardia identified in a single tertiary institution between January, 2001, and December, 2008. We considered several options for management, including no treatment but close surveillance, trans-placental antiarrhythmic therapy in fetuses presenting prior to 36 weeks of gestation, and delivery and treatment as a neonate for fetuses presenting after 36 weeks of gestation. Data was gathered by a review of prenatal and postnatal documentation. Results: Among 29 fetuses with tachycardia, 21 had supraventricular tachycardia with 1 to 1 conduction, 4 had atrial flutter, 3 had atrial tachycardia, while the remaining fetus had ventricular tachycardia. Of the group, 8 fetuses (27.6%) were hydropic. Transplacental administration of antiarrhythmic drugs was used in just over half the fetuses, delivery and treatment as a neonate in one-quarter, and no intervention but close surveillance in one-sixth of the case. Twenty-six of 29 fetuses (89.7%) were born alive. Only patients with fetal hydrops suffered mortality, with 37.5% of this group dying, this being statistically significant, with the value of p equal to 0.03, when compared to non-hydropic fetuses. Only 3 patients (11.5%) were receiving antiarrhythmic prophylaxis beyond the first year of life. Conclusion: A significant proportion of fetal tachycardias recognized before 36 weeks of gestation can be treated successfully by transplacental administration of antiarrhythmic drugs. Fetuses presenting after 36 weeks of gestation can be effectively managed postnatally. The long-term prognosis for fetuses diagnosed with tachycardia is excellent, with the abnormal rhythm resolving spontaneously during the first year of life in most of them.

Background: Limited data exist on training of European paediatric and adult congenital cardiologists. Methods: A structured and approved questionnaire was circulated to national delegates of Association for European Paediatric and Congenital Cardiology in 33 European countries. Results: Delegates from 30 countries (91%) responded. Paediatric cardiology was not recognised as a distinct speciality by the respective ministry of Health in seven countries (23%). Twenty countries (67%) have formally accredited paediatric cardiology training programmes, seven (23%) have substantial informal (not accredited or certified) training, and three (10%) have very limited or no programme. Twenty-two countries have a curriculum. Twelve countries have a national training director. There was one paediatric cardiology centre per 2.66 million population (range 0.87–9.64 million), one cardiac surgical centre per 4.73 million population (range 1.63–10.72 million), and one training centre per 4.29 million population (range 1.63–10.72 million population). The median number of paediatric cardiology fellows per training programme was 4 (range 1–17), and duration of training was 3 years (range 2–5 years). An exit examination in paediatric cardiology was conducted in 16 countries (53%) and certification provided by 20 countries (67%). Paediatric cardiologist number is affected by gross domestic product (R2 = 0.41). Conclusion: Training varies markedly across European countries. Although formal fellowship programmes exist in many countries, several countries have informal training or no training. Only a minority of countries provide both exit examination and certification. Harmonisation of training and standardisation of exit examination and certification could reduce variation in training thereby promoting high-quality care by European congenital cardiologists.