Cardiovascular disease is one of the most important problems in long-term follow-up for Noonan syndrome. We examined cardiovascular issues and clinical manifestations, with a focus on the cardiovascular disease and prognosis of patients with Noonan syndrome.

This single-centre study evaluated patients who were clinically and genetically diagnosed with Noonan syndrome.

Forty-three patients diagnosed with Noonan syndrome were analysed. The most prevalent responsible mutation was found in PTPN11 (25/43). The second and third most prevalent causative genes were SOS1 (6/43) and RIT1 (5/43), respectively, and 67.4% of genetically diagnosed patients with Noonan syndrome had structural cardiovascular abnormalities. Pulmonary valve stenosis was prevalent in patients with mutations in PTPN11 (8/25), SOS1 (4/6), and RIT1 (4/5). Hypertrophic cardiomyopathy was found in two of three patients with mutations in RAF1. There was no difference in the cardiovascular events or cardiovascular disease prevalence in patients with or without PTPN11 mutations. The proportion of RIT1 mutation-positive patients who underwent intervention due to cardiovascular disease was significantly higher than that of patients with PTPN11 mutations. Patients who underwent any intervention for pulmonary valve stenosis exhibited significantly higher pulmonary flow velocity than patients who did not undergo intervention, when they visited our hospital for the first time. All patients who underwent intervention for pulmonary valve stenosis had a pulmonary flow velocity of more than 3.0 m/s at first visit.

These findings suggest that genetic information can provide a clinical prognosis for cardiovascular disease and may be part of genotype-based follow-up in Noonan syndrome.

The way risk is interpreted by parents of children undergoing congenital cardiac surgery is poorly documented. Literature suggests clinicians have concerns that parents may not understand the complexity of procedures. Conversely, some parents perceive an unnecessary over-emphasis of risks.

To explore how risk is encountered by parents of children who are undergoing cardiac surgery, in order to deliver effective and compassionate care.

A qualitative approach was adopted. Interviews were undertaken with 18 parents (mothers n = 10; fathers n = 8). Recordings were transcribed verbatim and analysed using a constant comparative-based approach.

Three themes emerged from the data: the nature of risk, reflecting the complexity of parental perception of risk and the influence of the doctor–parent relationship; presenting risk, highlighting the way in which risk is presented to and interpreted by parents; and risk and responsibility, examining the way in which parents engaged with risk and the impact of this on their relationship.

The way in which risk is perceived by parents is complex and multi-factorial. The doctor–parent relationship is key to parental engagement. However, parents manage risk and uncertainty through a number of mechanisms, including those perceived as being not rational. This can cause tension, particularly when required to engage in informed decision-making.

We aimed to evaluate neutrophil-to-lymphocyte ratio in children with acute heart failure due to dilated cardiomyopathy, to assess the predictive and prognostic values of neutrophil-to-lymphocyte ratio, and to correlate its levels with brain natriuretic peptide and other various data in these patients.

We included 50 children with acute heart failure due to dilated cardiomyopathy as the patient group. Fifty healthy children of matched age and sex served as the control group. Patients were evaluated clinically and by echocardiography. A complete blood count with differentiation to evaluate neutrophil-to-lymphocyte ratio was done, and the serum level of brain natriuretic peptide was also measured. All patients were followed up for death or readmission for a period of one year.

Neutrophil-to-lymphocyte ratio was significantly higher in patient group as compared to the control group. Neutrophil-to-lymphocyte ratio was significantly increased in patients with higher severity of heart failure. There was a significant increase in neutrophil-to-lymphocyte ratio in patients with bad prognoses compared to those with good prognoses. There was a significant positive correlation between neutrophil-to-lymphocyte ratio and both brain natriuretic peptide and clinical stage of heart failure while there was a significant negative correlation between neutrophil-to-lymphocyte ratio and left ventricular systolic function. The best cut-off of neutrophil-to-lymphocyte ratio to predict adverse outcomes in children with dilated cardiomyopathy was >3.6 with 87% sensitivity and 79% specificity. The cut-off of neutrophil-to-lymphocyte ratio to predict patients who will not respond to conventional treatment was ≥3.85 with 85% sensitivity and 100% specificity.

Neutrophil-to-lymphocyte ratio is a cheap good predictive and prognostic biomarker in children with dilated cardiomyopathy.

Most patients born with CHD nowadays reach adulthood, and thus quality of life, life situation, and state of medical care aspects are gaining importance in the current era. The present study aimed to investigate whether patients’ assessment depends on their means of occupation. The findings are expected to be helpful in optimising care and for developing individual treatment plans.

The present study was based on an online survey conducted in cooperation with patient organisations. Participants were recruited from the database of the German National Register for Congenital Heart Defects. In total, 1828 individuals (777 males, 1051 females) took part. Participants were asked to rate aspects such their state of health on a six-tier scale (1=worst specification). Response behaviour was measured against the background of occupational details.

Training for or pursuing a profession was found to be significantly associated with participants’ rating of five of the six examined aspects (p<0.05). Sex seemed to play an important part in four of the six aspects.

An optimal treatment plan for adults with CHD should always consider aspects such as sex and employment status. To work out such an optimal and individual treatment plan for each adult CHD patient, an objective tool to measure patients’ actual CHD-specific knowledge precluding socially accepted response bias would be very useful.

Although magnetic resonance imaging is a primary modality for following patients with connective tissue diseases, only a limited amount of the image data is utilised. The purpose of this study was to show the clinical applicability of an automated four-dimensional analysis method of magnetic resonance images of the aorta and develop normative data for the cross-sectional area of the entire thoracic aorta.

Magnetic resonance imaging was obtained serially over 3 years from 32 healthy individuals and 24 patients with aortopathy and a personal or family history of connective tissue disorder. Graph theory-based segmentation was used to determine the cross-sectional area for the thoracic aorta. Healthy individual data were used to construct a nomogram representing the maximum cross-sectional area 5th–95th percentile along the entire thoracic aorta. Aortic root diameters calculated from the cross-sectional area were compared to measured diameters from echocardiographic data. The cross-sectional area of the entire thoracic aorta in patients was compared to healthy individuals.

Calculated aortic root diameters correlated with measured diameters from echo data – correlation coefficient was 0.74–0.87. The cross-sectional area in patients was significantly greater in the aortic root, ascending aorta, and descending aorta compared to healthy individuals.

The presentation of the dimensional data for the entire thoracic aorta shows an important clinical tool for following patients with connective tissue disorders and aortopathy.

Patients with repaired tetralogy of Fallot may develop symptomatic and haemodynamic deterioration for many reasons such as arrhythmia, pulmonary regurgitation, and impairment in ventricular function. We describe a consecutive group of patients whose main clinical problem was atrial tachyarrhythmias.

To describe the clinical outcome of atrial tachyarrhythmias occurring late after surgical repair of tetralogy of Fallot; to define the circuits/foci responsible for these atrial tachyarrhythmias; to evaluate the outcome of computer-assisted mapping and catheter ablation in this patient group.

Consecutive patients with surgically repaired tetralogy of Fallot and atrial tachyarrhythmias, who underwent catheter ablation between January, 2001 and June, 2007, were identified retrospectively from case records. Computer-assisted mapping was performed in all using either EnSite® (St Jude Medical Inc.) arrhythmia mapping and intra-cardiac catheter guidance system or CARTO™ (Biosense Webster Inc.) electroanatomical mapping systems. Ten patients (four males) with a median age of 39 plus or minus 8 years were studied. The total number of atrial tachyarrhythmias identified was 22 (six macro-reentrant, 16 micro-reentrant/focal). In nine patients, catheter ablation led to improvement in arrhythmia episodes and/or symptoms during follow-up of 41 plus or minus 20 months. Following ablation(s), five patients required pacing for pre-existing conduction disease and five needed further surgery for haemodynamic indications. All patients remained on anti-arrhythmic drugs.

Patients with surgically repaired tetralogy of Fallot and atrial tachyarrhythmias typically have multiple arrhythmic circuits/foci arising from a scarred right atrium. Catheter ablation reduces arrhythmia frequency and improves symptoms. However, hybrid management is often required, comprising drugs, pacing, and further surgery tailored to the individual.

Patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals are at risk for prolonged hospitalisation after unifocalisation. Feeding problems after congenital heart surgery are associated with longer hospital stay. We sought to determine the impact of baseline, intra-operative, and postoperative factors on the need for feeding tube use at the time of discharge.

We included patients with the aforementioned diagnosis undergoing unifocalisation from ages 3 months to 4 years from 2010 to 2016. We excluded patients with a pre-existing feeding tube. Patients discharged with an enteric tube were included in the feeding tube group. We compared the feeding tube group with the non-feeding-tube group by univariable and multi-variable logistic regression.

Of the 56 patients studied, 41% used tube feeding. Median age and weight z-score were similar in the two groups. A chromosome 22q11 deletion was associated with the need for a feeding tube (22q11 deletion in 39% versus 15%, p=0.05). Median cardiopulmonary bypass time in the feeding tube group was longer (335 versus 244 minutes, p=0.04). Prolonged duration of mechanical ventilation was associated with feeding tube use (48 versus 3%, p=0.001). On multi-variable analysis, prolonged mechanical ventilation was associated with feeding tube use (odds ratio 10.2, 95% confidence intervals 1.6; 63.8).

Among patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals who were feeding by mouth before surgery, prolonged mechanical ventilation after unifocalisation surgery was associated with feeding tube use at discharge. Anticipation of feeding problems in this population and earlier feeding tube placement may reduce hospital length of stay.

Growth among infants with CHD is poor, and is multifactorial with multiple contributing factors. Unexplained hypophosphataemia has been reported among infants and children with complex medical needs consuming amino acid infant formula as the sole source of nutrition. The aim of this audit was therefore to review the incidence of hypophosphataemia among infants with CHD.

The use of an electronic patient record search for “amino acid infant formula”, “CHD”, and “cardiac” yielded 136 infants <12 months of age. Preterm infants (n=24), children with chromosomal abnormalities (n=4), those >1 year of age (n=11) and infants with a structurally normal heart (n=31) were excluded from the study. The remaining 66 infants with CHD were given amino acid infant formula.

In all, 1059 serum phosphate measures were available. After the introduction of amino acid infant formula, significantly more infants with CHD had episodes of hypophosphataemia: 15% (n=10/66) before treatment versus 29% (n=19/66) after treatment (p=0.049). Mean serum phosphate levels were significantly lower in infants with CHD following consumption of amino acid infant formula (2.0±0.5 versus 1.5±0.5 mmol/L following treatment (p<0.0001)). Infants with CHD and hypophosphataemia, associated with amino acid infant formula, use demonstrated significantly lower weight gain compared with those with normal phosphate levels (weight-for-age z scores −2.1±1.4 versus –0.9±1.5; p<0.0001).

After the introduction of an amino acid formula, weight gain was significantly lower among those infants with low phosphate levels. There was a significantly higher prevalence of hypophosphataemia among infants with CHD after the introduction of amino acid infant formula. Lower phosphate levels were associated with lower weight-for-age z scores. Infants with CHD are susceptible to poor weight gain; it is therefore, crucial the nutritional status of infants prescribed amino acid infant formula is more closely monitored to ensure adequate growth.