Guidelines recommend screening for psychiatric co-morbidities in patients with congenital heart defects alongside cardiac outpatient follow-ups. These recommendations are not implemented in Denmark. This study aimed to investigate the psychiatric co-morbidities in children and adolescents with Fontan circulation in Denmark and to evaluate the feasibility of an online screening measure for psychiatric disorders.

Children, adolescents, and their families answered the Development and Well-Being Assessment questionnaire and a questionnaire about received help online. Development and Well-Being Assessment ratings present psychiatric diagnoses in accordance with ICD-10 and DSM-5. Parent-reported received psychiatric help is also presented. Feasibility data are reported as participation rate (completed Development and Well-Being Assessments) and parental/adolescent acceptability from the feasibility questionnaire.

The participation rate was 27%. Of the participating children and adolescents, 53% (ICD-10)/59% (DSM-5) met full diagnostic criteria for at least one psychiatric diagnosis. Of these, 50% had not received any psychiatric or psychological help. Only 12% of participants had an a priori psychiatric diagnosis.

We found that a large proportion of children and adolescents with Fontan circulation are underdiagnosed and undertreated for psychiatric disorders. The results from our study emphasise the need for psychiatric screening in this patient group. Development and Well-Being Assessment may be too comprehensive for online electronic screening in children and adolescents with CHD.

Differentiation between post-operative inflammation and bacterial infection remains an important issue in infants following congenital heart surgery. We primarily assessed kinetics and predictive value of C-reactive protein for bacterial infection in the early (days 0–4) and late (days 5–28) period after cardiopulmonary bypass surgery. Secondary objectives were frequency, type, and timing of post-operative infection related to the risk adjustment for congenital heart surgery score.

This 3-year single-centre retrospective cohort study in a paediatric cardiac ICU analysed 191 infants accounting for 235 episodes of CPBP surgery. Primary outcome was kinetics of CRP in the first 28 days after CPBP surgery in infected and non-infected patients.

We observed 22 infectious episodes in the early and 34 in the late post-operative period. CRP kinetics in the early post-operative period did not accurately differentiate between infected and non-infected patients. In the late post-operative period, infected infants displayed significantly higher CRP values with a median of 7.91 (1.64–22.02) and 6.92 mg/dl (1.92–19.65) on days 2 and 3 compared to 4.02 (1.99–15.9) and 3.72 mg/dl (1.08–9.72) in the non-infection group. Combining CRP on days 2 and 3 after suspicion of infection revealed a cut-off of 9.47 mg/L with an acceptable predictive accuracy of 76%.

In neonates and infants, CRP kinetics is not useful to predict infection in the first 72 hours after CPBP surgery due to the inflammatory response. However, in the late post-operative period, CRP is a valuable adjunctive diagnostic test in conjunction with clinical presentation and microbiological diagnostics.

The objective of this study was to investigate changes in serum biomarkers of acute brain injury, including white matter and astrocyte injury during chronic foetal hypoxaemia. We have previously shown histopathological changes in myelination and neuronal density in fetuses with chronic foetal hypoxaemia at a level consistent with CHD.

Mid-gestation foetal sheep (110 ± 3 days gestation) were cannulated and attached to a pumpless, low-resistance oxygenator circuit, and incubated in a sterile fluid environment mimicking the intrauterine environment. Fetuses were maintained with an oxygen delivery of 20–25 ml/kg/min (normoxemia) or 14–16 ml/kg/min (hypoxaemia). Myelin Basic Protein and Glial Fibrillary Acidic Protein serum levels in the two groups were assessed by ELISA at baseline and at 7, 14, and 21 days of support.

Based on overlapping 95% confidence intervals, there were no statistically significant differences in either Myelin Basic Protein or Glial Fibrillary Acidic Protein serum levels between the normoxemic and hypoxemic groups, at any time point. No statistically significant correlations were observed between oxygen delivery and levels of Myelin Basic Protein and Glial Fibrillary Acidic Protein.

Chronic foetal hypoxaemia during mid-gestation is not associated with elevated serum levels of acute white matter (Myelin Basic Protein) or astrocyte injury (Glial Fibrillary Acidic Protein), in this model. In conjunction with our previously reported findings, our data support the hypothesis that the brain dysmaturity with impaired myelination found in fetuses with chronic hypoxaemia is caused by disruption of normal developmental pathways rather than by direct cellular injury.

The objectives of the present study were to determine whether there was any association between the grade of heart failure, as expressed by preoperative levels of brain natriuretic peptide and Ross score, and the preoperative coagulation status in patients with non-restrictive ventricular shunts and determine whether there were any postoperative disturbances of the coagulation system in these patients, as measured by thromboelastometry and standard laboratory analyses of coagulation.

Perioperative coagulation was analysed with laboratory-based coagulation tests and thromboelastometry before, 8 hours after, and 18 hours after cardiac surgery. In addition, brain natriuretic peptide was analysed before and 18 hours after surgery.

40 children less than 12 months old with non-restrictive congenital ventricular or atrio-ventricular shunts scheduled for elective repair of their heart defects.

All coagulation parameters measured were within normal ranges preoperatively. There was a significant correlation between brain natriuretic peptide and plasma fibrinogen concentration preoperatively. There was no statistically significant correlation between brain natriuretic peptide and INTEM-MCF, FIBTEM-MCF, plasma fibrinogen, activated partial thromboplastin time, prothrombin time, or platelet count at any other time point, either preoperatively or postoperatively. Postoperatively, fibrinogen plasma concentration and FIBTEM-MCF decreased significantly at 8 hours, followed by a large increase at 18 hours to higher levels than preoperatively.

There was no evidence of children with non-restrictive shunts having coagulation abnormalities before cardiac surgery. Brain natriuretic peptide levels or Ross score did not correlate with coagulation parameters in any clinically significant way.

Children with congenital heart disease and cardiomyopathy are a unique patient population. Different therapies continue to be introduced with large practice variability and questionable outcomes. The purpose of this study is to determine the impact of various medications on intensive care unit length of stay, total length of stay, billed charges, and mortality for admissions with congenital heart disease and cardiomyopathy.

We identified admissions of paediatric patients with cardiomyopathy using the Pediatric Health Information System database. The admissions were then separated into two groups: those with and without inpatient mortality. Univariate analyses were conducted between the groups and the significant variables were entered as independent variables into the regression analyses.

A total of 10,376 admissions were included these analyses. Of these, 904 (8.7%) experienced mortality. Comparing patients who experienced mortality with those who did not, there was increased rate of acute kidney injury with an odds ratio (OR) of 5.0 [95% confidence interval (CI) 4.3 to 5.8, p < 0.01], cardiac arrest with an OR 7.5 (95% CI 6.3 to 9.0, p < 0.01), and heart transplant with an OR 0.3 (95% CI 0.2 to 0.4, p < 0.01). The medical interventions with benefit for all endpoints after multivariate regression analyses in this cohort are methylprednisolone, captopril, enalapril, furosemide, and amlodipine.

Diuretics, steroids, angiotensin-converting enzyme inhibitors, calcium channel blockers, and beta blockers all appear to offer beneficial effects in paediatric cardiomyopathy admission outcomes. Specific agents within each group have varying effects.

Ebstein anomaly is a rare congenital heart defect (CHD) that, when severe, requires corrective surgery or other catheter-based intervention in the first year of life. Due to its rarity, risk factors for Ebstein anomaly remain largely unknown. Using national data, we examined 18 potential risk factors for Ebstein anomaly.

Using 1997–2011 data from the National Birth Defects Prevention Study, a population-based case–control study, we calculated crude and adjusted odds ratios and 95% confidence intervals for paternal age, maternal socio-demographics, reproductive history, and modifiable risk factors, and infant characteristics reported by mothers of 135 Ebstein anomaly cases and 11,829 controls.

Mothers of Ebstein anomaly cases had 4.1 (95% confidence interval: 1.8, 9.5) times the odds of reporting a family history of CHD compared with mothers of controls. Ebstein anomaly was associated with maternal second-hand cigarette smoke exposure at home (odds ratio = 2.2 [95% confidence interval: 1.1, 4.4]), but not maternal cigarette smoking (odds ratio = 1.3 [95% confidence interval: 0.8, 2.1]). Odds were elevated, but the 95% confidence interval included 1.0, for maternal marijuana use (odds ratio = 1.8 [95% confidence interval: 0.9, 3.8]) and paternal age ≥40 years at delivery (odds ratio = 1.9 [95% confidence interval: 1.0, 3.5]).

Maternal exposure to second-hand cigarette smoke at home and a family history of CHD were associated with elevated odds of Ebstein anomaly. Genetic analyses could clarify the potential heritability of Ebstein anomaly.

To evaluate academic achievement and satisfaction in adolescents with CHD.

Questionnaires were sent to all adolescents, aged between 17 and 20 years with CHD, currently treated at our hospital (n=326) in order to assess the patients’ education and satisfaction with their academic career. Results were compared with the official community statistics.

A total of 207 patients completed the questionnaires (participation rate 63.5%), 113 boys and 94 girls; 50% had completed mandatory school at the highest, 37.3% at the middle, and 12.7% at the lowest educational level. The distribution in the general population was comparable: 57.6, 32.5, and 9.9%, respectively (p=0.8). Adolescents with severe CHD were less likely to attain a higher educational level than those with moderate or mild CHD (p=0.03 for school grades 7–9). None of the other examined medical or socio-demographic factors, such as socio-economic status, foreign language, severity of CHD, cyanosis, and open heart surgery, were found to be associated with lower educational attainment. After the mandatory 9 years of schooling, 21.4% (n=44) of the patients with CHD compared with 16.7% in the general population attended higher school levels heading towards university education (p=0.7). From the 165 patients who provided information on career satisfaction, 79% regarded their job or school situation as being their desired one without a difference for those with severe CHD.

School education in Swiss adolescents with CHD is very similar to the normal population. In addition, the majority of adolescents are satisfied with their educational career. This fact may be due to the good educational support provided during schooling.

Efficient diagnosis of an underlying genetic aetiology in a patient with congenital heart disease is essential to optimising clinical care. Copy number variants are one aetiology of congenital heart disease; the majority are identifiable by targeted fluorescence in situ hybridisation or array comparative genomic hybridisation, not by classical cytogenetic analysis. This study assessed the utility of array comparative genomic hybridisation as a first-tier diagnostic test for neonates with congenital heart disease.

A prospective chart review of neonates with congenital heart disease in the Cardiac Intensive Care Unit at Children’s Hospital of Pittsburgh of UPMC was performed. Patients were tested by array comparative genomic hybridisation and classical cytogenetic analysis simultaneously. Data collected included all chromosome abnormalities detected, physical examination findings, and imaging results. McNemar’s test was used to compare detection of array comparative genomic hybridisation and classical cytogenetic analysis.

Of 45 patients, three (6.7%) had an abnormality detected by classical cytogenetic analysis and an additional 10 (22.2%) had a copy number variant detected by array comparative genomic hybridisation, highlighting an increased detection rate (p=0.008). Several of these copy number variants had unclear clinical significance, requiring additional investigation. The prevalence of dysmorphology and/or comorbidity in this population was 72%. Identification of dysmorphic features was greater when assessed by a geneticist than by providers of different subspecialties.

Array comparative genomic hybridisation has significant clinical utility as a first-tier test in this population, but it carries the potential for incidental findings and results of uncertain clinical significance. Collaboration between cardiologists and medical geneticists is essential to providing optimal clinical care.

To assess clinical presentation, treatment, and outcome of children with Ebstein's anomaly.

Data on long-term outcome of children with Ebstein's anomaly are scarce.

Retrospective analysis of all children with Ebstein's anomaly treated between February, 1979 and January, 2009 in a single tertiary institution. Primary outcomes included patient survival and need for intervention, either cardiac surgery or catheter intervention.

A total of 42 patients were diagnosed with Ebstein's anomaly at a median age of 5 days ranging from 1 day to 11.7 years. Symptoms included cyanosis, heart murmur, and/or dyspnoea. Associated cardiac anomalies occurred in 90% of the patients. Average follow-up was 9.5 plus or minus 7.0 years. The overall mortality rate was 14%. Of the six patients, three died postnatally before treatment. Cardiac surgery and/or catheter-guided interventions were required in 33 patients (79%). Cardiac surgery was performed in 21 (50%) patients at a median age of 9.1 years (range 0.1–16.5 years), including biventricular repair in 13 (62%), one-and-a-half chamber repair in seven (33%), and a staged single-ventricle repair in one. Peri-operative mortality was 4%. Catheter-guided interventions consisted of device closure of an atrial septal defect in three cases and radiofrequency ablation of accessory pathways in nine patients. The estimated 10-year survival was 85.3 plus or minus 5.6%.

In children, Ebstein's anomaly is usually diagnosed in the first year of age. Even though children with Ebstein's anomaly often require an intervention, their peri-operative mortality is low and long-term survival is good. Symptomatic newborns requiring an intervention may have a worse outcome.

Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis.

We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes.

The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy.

Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomiopathy, DiGeorge anomaly, and maternal diabetes.

We thought of assessing the prevalence and predictors of feeding disorders in patients with congenital heart defects after neonatal cardiac surgery.

Retrospective study of 82 consecutive neonates (48 males, 34 females) who underwent surgery for congenital heart defects from 1999 to 2002. Information was taken from patient charts and nursing notes. The presence of a feeding disorder was assessed by a questionnaire sent to the paediatricians when the child was 2 years of age. A feeding disorder was defined as a need for tube feeding, inadequate food intake for age, or failure to thrive. Data were analysed with descriptive statistics and logistic regression.

Feeding disorders occurred in 22% of the study population. Reoperation and early feeding disorders were identified as independent risk factors for later feeding disorders (odds ratio 5.8, p 0.01; odds ratio 20.7, p 0.02). There was a trend towards more feeding disorders in patients with neurological abnormalities during the first hospital stay.

Feeding disorder is a frequent, long-term sequela after neonatal cardiac surgery. Patients with congenital heart defects who undergo multiple cardiac surgeries and those with early feeding disorders are at risk of developing later feeding disorders. Patients with these risk factors need to be selected for preventive strategies.

To investigate the effect of bosentan in patients with a failing Fontan circulation.

A multicentric open label, non-controlled study.

5 tertiary care centres for congenital cardiology.

We included 10 patients with a failing Fontan circulation. Their median age at inclusion was 12.12 years, with a range from 4.41 to 33,41 years. The median interval between the Fontan operation and inclusion was 7.84 years, with a range from 1.96 to 12,18 years. Participants received half the usual dose of bosentan for 4 weeks, and then the full dose for a further 12 weeks.

We assessed saturations of oxygen at rest and during exercise, using a 6 minutes walk test, at baseline, and during and after 16 weeks of treatment. At each visit, we assessed blood chemistry and hepatic function, and asked the patients to complete a questionnaire concerning quality of life. All medical events and possible side effects were recorded.

Of the cohort, 1 patient withdrew. The changes in saturations of oxygen, exercise performance, and scores for the questionnaire did not reach statistical significance for the whole group. We noted, nonetheless, that saturations of oxygen and/or exercise capacity improved in 5 of the patients. This was further confirmed when those patients deteriorated again when the drug was discontinued.

Our study failed to show significant improvement after 3 months of treatment with bosentan in a small group of patients with failing Fontan circulations. Some individuals, nonetheless, did improve. When planning larger trials, it would be better to identify those patients who might potentially benefit from the treatment prior to commencing the trial.