In our recent study, we first reported that mutation in vascular endothelial growth factor-A is associated with bicuspid aortic valve stenosis. However, to date no groups have explored the role of vascular endothelial growth factor-A variations in the aetiology of congenital tricuspid aortic valve stenosis.

We sequenced all eight coding exons and exon–intron boundaries of the vascular endothelial growth factor-A gene in deoxyribonucleic acid samples of a cohort of 32 sporadic patients with tricuspid aortic valve stenosis, 300 normal controls, and 103 disease controls – conotruncal defects – in order to identify sequence variants.

We identified a c.973C > T heterozygous nonsense variation in exon 6 of the vascular endothelial growth factor-A gene in a patient with an isolated tricuspid aortic valve stenosis. The c.973C > T variation, which was absent in all controls, changes a highly conserved arginine at amino acid position 325 to a stop codon (p.Arg325X) and is predicted to produce a truncated protein of 324 amino acid residues. The proband's parents had a normal cardiac phenotype; however, his father was a carrier of the p.Arg325X variation, which indicates that the p.Arg325X variation is inherited and incompletely penetrant.

We report for the first time that the p.Arg325X nonsense variation in the vascular endothelial growth factor-A gene may be associated with congenital tricuspid aortic valve stenosis.

To investigate the effect of pulsatility of venous flow waveform in the inferior and superior caval vessels on the performance of functional and “failing” Fontan patients based on two primary performance measures – the conduit power loss and the distribution of inferior caval flow (hepatic factors) to the lungs.

Doppler angiography flows were acquired from two typical extra-cardiac conduit “failing” Fontan patients, aged 13 and 25 years, with ventricle dysfunction. Using computational fluid dynamics, haemodynamic efficiencies of “failing”, functional, and in vitro-generated mechanically assisted venous flow waveforms were evaluated inside an idealised total cavopulmonary connection with a caval offset. To investigate the effect of venous pulsatility alone, cardiac output was normalised to 3 litres per minute in all cases. To quantify the pulsatile behaviour of venous flows, two new performance indices were suggested.

Variations in the pulsatile content of venous waveforms altered the conduit efficiency notably. High-frequency and low-amplitude oscillations lowered the pulsatile component of the power losses in “failing” Fontan flow waveforms. Owing to the offset geometry, hepatic flow distribution depended strongly on the ratio of time-dependent caval flows and the pulsatility content rather than mixing at the junction. “Failing” Fontan flow waveforms exhibited less balanced hepatic flow distribution to lungs.

The haemodynamic efficiency of single-ventricle circulation depends strongly on the pulsatility of venous flow waveforms. The proposed performance indices can be calculated easily in the clinical setting in efforts to better quantify the energy efficiency of Fontan venous waveforms in pulsatile settings.

To assess the quality of imaging modalities of a new micro multiplane transoesophageal echocardiogram probe.

This is a prospective study of micro transoesophageal echocardiogram S8-3t probe used at a single institution between 15 December, 2009 and 15 March, 2010. The images were compared with standard paediatric or adult probes where possible. Assessors prospectively rated imaging quality – two dimensional, colour flow imaging, pulse wave, and continuous wave Doppler – with a subjective 4-point scale (1 = poor to 4 = excellent).

A total of 24 studies were performed on 23 patients, with a median weight = 11.7 kilograms (2.6–72 kilograms) and a median age of 3 years (0.16–60 years). Of the 23 patients, one neonate (2.8 kilograms) had transient bradycardia on probe insertion. Imaging in patients less than 10 kilograms was of full diagnostic value and new information was obtained in eight out of ten patients. Pulse wave and continuous wave Doppler was consistently good across all weight groups. There were high frame rates and good imaging quality to a depth of 4–6 centimetres in all studies. A comparison with a larger alternative probe was available for 12 studies (weight 11.9–72 kilograms). The median micro transoesophageal two-dimensional image quality score was 3 (2–4) and 4 (3–4) with the comparative probe. For the 10- to 30-kilogram group, image quality with the micro transoesophageal echocardiogram probe was judged as inferior to larger standard probes. Adult sized patients had good imaging of near the field, allowing guidance for percutaneous device closure of the atrial septum.

The micro multiplane transoesophageal echocardiogram probe provides imaging of diagnostic quality in neonates. In larger patients, it offers good imaging of near field structures. In the intermediate-sized child (10–30 kilograms), standard paediatric probes provide better imaging.

The benefits of early enteral feeding in neonates are well known and yet the optimal pre-operative nutrition of prostaglandin-dependent infants with congenital cardiac disease remains ill-defined. This survey delineates international nutritional practices and trends with this population.

Paediatric practitioners responded to an Internet-based survey that explored assessment of feeding practices, criteria for feeding readiness, medication dosing, concurrent feeding with umbilical catheters, and the observed incidence of feeding intolerance. Documented nutritional strategies were not correlated with patient outcomes.

A total of 200 caregivers responded to the survey. Fewer United States caregivers (56%) reported routine pre-operative enteral feeding in prostaglandin-dependent infants when compared with caregivers outside the United States of America (93%). Of those respondents willing to feed, approximately two-thirds did not base their decision on the ductal flow direction. Numerous and heterogeneous parameters were reported to assess feeding readiness. Many caregivers report scepticism with regard to enteral feeding safety in neonates with an umbilical artery catheter, and to a lesser extent in the presence of an umbilical venous catheter. In summary, there is a prevailing lack of consensus regarding pre-operative enteral nutrition to prostaglandin-dependent neonates.

This survey demonstrates noticeable variations in pre-operative nutritional practices between providers from around the world. Arguments that support or refute this practice have little support in the medical literature. Future studies should aim to demonstrate the safety of such practice and compare the outcomes of prostaglandin-dependent neonates who were pre-operatively enterally fed with those who were not.

Achievement of adequate oral nutrition is a challenging task after early neonatal cardiac surgery. This study aims to describe predictors of oral feeding outcomes for neonates after early surgical interventions.

A retrospective review of neonates admitted with congenital cardiac disease over a period of 1 year. We analysed predictors of the need for a feeding tube at discharge and the amount taken at each feeding. Multilevel modelling was used to look at individual change over time predicting oral amount at each feeding.

We identified 56 neonates. Diagnoses were heterogeneous; 23% of the infants had associated genetic syndromes and 45% required pre-operative mechanical ventilation. The median time from birth to surgery was 8.4 days, with 29 infants fed orally before surgery. The mean time from surgery to first oral feeding attempt was 12 hours. Time from surgery to oral feeding, the amount taken with first feeding, and cross-clamp times were significant predictors of oral feeding success, whereas the presence of a comorbidity – genetic abnormality – and longer ventilator dependency predicted failure. Almost half of the neonates required a feeding tube upon discharge, and no infant discharged was solely breastfed. Discharge with a feeding tube was associated with greater weight gain at that time.

Neonates with congenital cardiac disease face significant barriers to successfully achieving oral feeding on hospital discharge. Enteral feeding guidelines focus on physiological stabilisation and do not always address the developmental milestones necessary to support oral feeding. Future prospective studies are necessary to identify multimodal strategies to optimise early feeding.