We carried out a retrospective review of patients who underwent repair for ventricular septal defect and aortic arch obstruction – coarctation or interrupted aortic arch – between July, 2002 and June, 2013. Echocardiographic data were reviewed, and the need for re-intervention was evaluated.

A total of 89 patients were included in this study. A significant left ventricular outflow tract growth was noticed after surgical repair. Preoperatively, the mean left ventricular outflow tract Z-score was −1.46±1 (range −5.5 to 1.1) and increased to a mean value of −0.7±1.3 (range −2.7 to 3.2) at last follow-up (p=0.0001), demonstrating relevant growth of the left ventricular outflow tract after repair for ventricular septal defect and aortic arch obstruction. After primary repair, 11 patients (12.3%) required re-intervention with surgical repair for left ventricular outflow tract obstruction after a mean period of 36±21 months. There were no significant differences in age, weight, and indexed aortic valve and left ventricular outflow tract measurements between those who developed obstruction and those who did not.

Significant left ventricular outflow tract growth is expected after repair of ventricular septal defect and aortic arch obstruction. Small aortic valve and left ventricular outflow tract at diagnosis are not risk factors to predict the need for surgical re-intervention for left ventricular outflow tract obstruction in future.

The goal of the present prospective study was to assess health-related quality of life in children and adolescents with CHD before and after cardiac catheter treatment.

The study enrolled 96 children/adolescents with CHD from the north-east of China who underwent cardiac catheter intervention treatment between March, 2013 and January, 2014. The health-related quality of life at 24 hours before treatment, 1 month after treatment, and 6 months after treatment was evaluated using Pediatric Quality of Life Inventory Measurement Models 4.0 (PedsQLTM 4.0) generic core scales, and the scores were further compared.

Before treatment, each HRQOL domain score and the total score were obviously decreased than the post-treatment scores (1 month and 6 months). The total score and the scores in physical functioning and psychological functioning components were further increased 6 months after treatment than the scores 1 month after treatment.

The present study suggests that cardiac catheter interventional treatment improves the life quality of children or adolescents with CHD as time increases after the intervention.

Kawasaki disease is an acute systemic vasculitis. Cardiac complications are frequent and include endothelial dysfunction in patients with coronary anomalies. Thus far, endothelial dysfunction in patients with no coronary lesions is poorly understood. Our aim was to access the vascular function in adolescents and young adults long term after Kawasaki disease, but without coronary aneurysms or any other cardiac risk factors.

We carried out a single-centre prospective study in a Portuguese population. We evaluated two groups of subjects: (1) Kawasaki disease patients over 11 years of age, diagnosed >5 years ago, with no coronary lesions or any other risk factors for cardiovascular disease; (2) control group of individuals without cardiovascular risk factors. Patients and controls were clinically assessed. Endo-PAT and carotid intima-media thickness assessment were performed to determine vascular function.

In total, 43 Kawasaki disease patients were assessed and compared with 43 controls. Kawasaki disease patients presented a decreased reactive hyperaemia index compared with controls (1.59±0.45 versus 1.98±0.41; p<0.001). Augmentation index was similar in both groups (−4.5±7 versus −5±9%; p 0.6). The mean carotid intima-media thickness was not significantly increased in the Kawasaki disease group. There were no statistically significant changes with regard to laboratory data.

Children with Kawasaki disease may have long-term sequelae, even when there is no discernible coronary artery involvement in the acute stage of the disease. Further research is needed to assess whether known strategies to improve endothelial function would bring potential benefits to Kawasaki disease patients.

Infective endocarditis has been reported post Melody percutaneous pulmonary valve implant; the incidence and risk factors, however, remain poorly defined. We identified four cases of endocarditis from our first 25 Melody implants. Our aim was to examine these cases in the context of postulated risk factors and directly compare endocarditis rates with local surgical valves.

We conducted a retrospective review of patients post Melody percutaneous pulmonary valve implant in New Zealand (October, 2009–May, 2015) and also reviewed the incidence of endocarditis in New Zealand among patients who have undergone surgical pulmonary valve implants.

In total, 25 patients underwent Melody implantation at a median age of 18 years. At a median follow-up of 2.9 years, most were well with low valve gradient (median 27 mmHg) and only mild regurgitation. Two patients presented with life-threatening endocarditis and obstructive vegetations at 14 and 26 months post implant, respectively. Two additional patients presented with subacute endocarditis at 5.5 years post implant. From 2009 to May, 2015, 178 surgical pulmonic bioprostheses, largely Hancock valves and homografts, were used at our institution. At a median follow-up of 2.9 years, four patients (2%) had developed endocarditis in this group compared with 4/25 (16%) in the Melody group (p=0.0089). Three surgical valves have been replaced.

The Melody valve offers a good alternative to surgical conduit replacement in selected patients. Many patients have excellent outcomes in the medium term. Endocarditis, however, can occur and if associated with obstruction can be life threatening. The risk for endocarditis in the Melody group was higher in comparison with that in a contemporaneous surgical pulmonary implant cohort.

Shone’s syndrome is a complex consisting of mitral valve stenosis in addition to left ventricle outflow obstruction. There are a few studies evaluating the long-term outcomes in this population. We sought to determine the long-term outcomes in our paediatric population with Shone’s syndrome and the factors associated with left heart growth.

All patients diagnosed with Shone’s syndrome with biventricular circulation treated between 1978 and 2010 were reviewed. Baseline echocardiograms and data from catheterisations were also reviewed. Number of interventions (surgical+transcatheter), incidence of mitral valve replacement, and incidence of heart transplantation were tracked. Survival of the population and left heart structural growth were also reviewed.

A total of 121 patients with Shone’s syndrome presented at a median age of 28 days (0–17.3 years) and were followed-up for 7.2 years (0.01–35.5 years). These patients underwent 258 interventions during the study period, and the presence of coarctation was associated with repeat left heart interventions. The 10-year, transplant-free survival was 86%. Presence of pulmonary hypertension was associated with mortality. Left heart structural growth was seen for mitral and aortic valve annuli and left ventricular end-diastolic dimension over time.

Shone’s syndrome patients undergo a number of left heart interventions. Coarctation of the aorta is associated with an increased likelihood for repeat interventions. Survival appears to be more favourable than expected. Significant left heart growth will occur in the population. Pulmonary hypertension is associated with an increased risk of mortality.

The aim of this study was to assess the diagnostic value of plasma N-terminal connective tissue growth factor in children with heart failure.

Plasma N-terminal connective tissue growth factor was determined in 61 children, including 41 children with heart failure, 20 children without heart failure, and 30 healthy volunteers. The correlations between plasma N-terminal connective tissue growth factor levels and clinical parameters were investigated. Moreover, the diagnostic value of N-terminal connective tissue growth factor levels was evaluated. Compared with healthy volunteers and children without heart failure, plasma N-terminal connective tissue growth factor levels were significantly elevated in those with heart failure (p<0.01). N-terminal pro-brain natriuretic peptide and left ventricular end-diastolic dimension were positively correlated with plasma N-terminal connective tissue growth factor levels (r=0.364, p=0.006; r=0.308, p=0.016), whereas there was a negative correlation between left ventricular ejection fraction and plasma N-terminal connective tissue growth factor (r=−0.353, p=0.005). Connective tissue growth factor was significantly correlated with the severity of heart failure (p<0.001). Moreover, addition of connective tissue growth factor to N-terminal pro-brain natriuretic peptide did not significantly increase area under curve for diagnosing heart failure (area under curve difference 0.031, p>0.05), but it obviously improved the ability of diagnosing heart failure in children, as demonstrated by the integrated discrimination improvement (6.2%, p=0.013) and net re-classification improvement (13.2%, p=0.017) indices.

Plasma N-terminal connective tissue growth factor is a promising diagnostic biomarker for heart failure in children.

Previous studies have identified risk factors for femoral arterial thrombosis after paediatric cardiac catheterisation, but none of them have evaluated the clinical and economic significance of this complication at the population level. Therefore, we examined the national prevalence and economic impact of femoral arterial thrombosis after cardiac catheterisation in children.

Patients⩽18 years of age who underwent cardiac catheterisation were identified in the 2003–2009 Kids’ Inpatient Database. Patients were stratified by age as follows: <1 year of age or 1–18 years of age. The primary outcome was arterial thrombosis of the lower extremity during the same hospitalisation as cardiac catheterisation. Propensity score matching was used to determine the impact of femoral arterial thrombosis on hospital length of stay, cost, and mortality.

Among the 11,497 paediatric cardiac catheterisations identified, 4558 catheterisations (39.6%) were performed in children <1 year of age. This age group experienced a higher prevalence of reported femoral arterial thrombosis, compared with children aged 1–18 years (1.3 versus 0.3%, p<0.001). After matching, femoral arterial thrombosis in children <1 year of age was associated with similar mortality (5.4 versus 1.8%, p=0.28), length of stay (8 versus 5 days, p=0.11), and total hospital cost ($27,135 versus $28,311, p=0.61), compared with absence of thrombosis.

Femoral arterial thrombosis is especially prevalent in children <1 year of age undergoing cardiac catheterisation. Clinicians should be vigilant in monitoring femoral arterial patency in neonates and infants after cardiac catheterisation.

In very low birth weight infants, persistence of a patent ductus arteriosus results in morbidity and mortality. Therapies to close the ductus are effective, but clinical outcomes may depend on the accuracy of diagnosis and the timing of administration. The objective of the present study was to characterise the association between early echocardiography, therapy for patent ductus arteriosus, and outcomes in very low birth weight infants.

This retrospective cohort study used electronic health record data on inborn infants of gestational age ⩽28 weeks and birth weight <1500 g who were discharged after day of life 7 from 362 neonatal ICU from 1997 to 2013. The primary outcome was death between day of life 7 and discharge. Secondary outcomes included bronchopulmonary dysplasia, necrotising enterocolitis, and grade 3 or 4 intraventricular haemorrhage.

This study included a total of 48,551 infants with a median gestational age of 27 weeks (interquartile range 25, 28) and birth weight 870 g (706, 1050). Early echocardiography – that is, performed during days of life 2 to 6 – was performed in 15,971/48,551 (33%) infants, and patent ductus arteriosus was diagnosed in 31,712/48,551 (65%). The diagnosis was more common in infants who had undergone early echocardiography (14,549/15,971 [91%] versus 17,163/32,580 [53%], p<0.001). In multivariable analysis, early echocardiography was not associated with reduced mortality (odds ratio 0.97, 95% CI 0.89–1.05). Results were similar in the subset of infants who received therapy for patent ductus arteriosus (odds ratio 1.01, 95% CI 0.90–1.15).

Early echocardiography was associated with an increased diagnosis of patent ductus arteriosus, but not with decreased mortality.

Absent arterial valve leaflets are rare anomalies. On the basis of our understanding of the normal development of the arterial valves, we draw inferences that might offer clues to their morphogenesis.

We describe the findings from four human fetal autopsies with so-called “absent” arterial valvar leaflets. We then make inferences relative to these finding on the basis of our current understanding of normal development, the latter obtained by analysis of episcopic data sets from a large series of mouse embryos.

The fetuses had died between 12 and 15 weeks of gestation. In two cases, we found absence of the leaflets of the pulmonary valve, with patency of the arterial duct, but otherwise normal hearts. In a third case, there was absence of the leaflets of both arterial valves, along with a perimembranous ventricular septal defect and a “window-type” arterial duct. This fetus had a completely muscular subaortic infundibulum. The last fetus had a pulmonary dominant common arterial trunk, with absence of the truncal valvar leaflets, but again with a muscular subtruncal infundibulum. Findings from the analysis of the mouse embryos reveal that the arterial valvar leaflets are formed from the distal outflow cushions, but that the cushions have a separate function in septating the arterial roots and the proximal outflow tracts.

When interpreting the fetal findings in the light of development, we conclude that there had been normal fusion of the major outflow cushions, but failure in excavation of their peripheral margins in three of the cases. In the fourth case, however, the cushions had not only failed to excavate but had also failed to separate the arterial roots.

The aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes.

The aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs.

The data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes.

During 1991–2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p<0.001), maternal age >35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, p<0.001) were associated with transposition of the great arteries. In a univariate analysis, Bedouin descent (p=0.004) and congenital heart defects in siblings (p<0.001) were associated with truncus arteriosus.

We observed higher birth prevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.

The role of right ventricular longitudinal strain for assessing patients with repaired tetralogy of Fallot is not fully understood. In this study, we aimed to evaluate its relation with other structural and functional parameters in these patients.

Patients followed-up in a grown-up CHD unit, assessed by transthoracic echocardiography, cardiac MRI, and treadmill exercise testing, were retrospectively evaluated. Right ventricular size and function and pulmonary regurgitation severity were assessed by echocardiography and MRI. Right ventricular longitudinal strain was evaluated in the four-chamber view using the standard semiautomatic method.

In total, 42 patients were included (61% male, 32±8 years). The mean right ventricular longitudinal strain was −16.2±3.7%, and the right ventricular ejection fraction, measured by MRI, was 42.9±7.2%. Longitudinal strain showed linear correlation with tricuspid annular systolic excursion (r=−0.40) and right ventricular ejection fraction (r=−0.45) (all p<0.05), which in turn showed linear correlation with right ventricular fractional area change (r=0.50), pulmonary regurgitation colour length (r=0.35), right ventricular end-systolic volume (r=−0.60), and left ventricular ejection fraction (r=0.36) (all p<0.05). Longitudinal strain (β=−0.72, 95% confidence interval −1.41, −0.15) and left ventricular ejection fraction (β=0.39, 95% confidence interval 0.11, 0.67) were independently associated with right ventricular ejection fraction. The best threshold of longitudinal strain for predicting a right ventricular ejection fraction of <40% was −17.0%.

Right ventricular longitudinal strain is a powerful method for evaluating patients with tetralogy of Fallot. It correlated with echocardiographic right ventricular function parameters and was independently associated with right ventricular ejection fraction derived by MRI.

The aim of this study was to determine whether the exercise tolerance test can provide diagnostic and prognostic information regarding children and young adults and help predict outcome.

A total of 87 patients, aged 7–29 years (median 13, mean 13.4) were selected retrospectively. They underwent exercise test at the Freeman Hospital from December, 2015 to May, 2016. There were two groups of patients – 46 had symptoms such as chest pain, palpitations, syncope, or dyspnoea on exertion and no cardiac diagnosis, and 40 patients had a cardiac diagnosis such as hypertrophic cardiomyopathy, transposition of the great arteries with post-arterial switch operation, aortic stenosis or regurgitation, tetralogy of Fallot, abnormal coronary arteries, Wolff–Parkinson–White syndrome, or supraventricular tachycardia.

In the group of patients with symptoms and no cardiac diagnosis, exercise test was negative and there was no exercise-induced arrhythmia; 31 patients were discharged from follow-up. In the group of patients with a cardiac diagnosis, four patients had to be treated – one had ablation, one the Ross procedure, one aortic valve repair, and one aortic valve ballooning; in addition, seven patients had to be further investigated – one had signal average electrocardiogram, one stress cardiac MRI, two cardiac MRI, one lung function test, one reveal device, and one 24 hours electrocardiogram. In all, 43 patients were further followed-up from both groups.

The exercise tolerance test is useful for clinical decision making in children and young adults with a cardiac diagnosis. In this study, the exercise tolerance test in patients with symptoms suggestive of cardiac disease but no cardiac diagnosis did not reveal any new diagnoses.

Data regarding long-term outcome after percutaneous closure of left superior caval vein draining into the left atrium are lacking. The aim of the present study was to report the long-term follow-up by using contrast-enhanced CT.

In all, three patients underwent percutaneous closure of left superior caval vein draining into the left atrium between 2005 and 2015. All of them were evaluated clinically and underwent contrast-enhanced CT.

In one patient, the Amplatzer® Septal Occluder was used. In two patients, the Amplatzer® Vascular Plug type-1 was preferred: the device size/LSVC diameter ratio was 1.7 in the child and 1.2 in the adult. There were no early-onset or long-term onset complications. CT was performed 1, 2, and 10 years after the procedure, respectively. Complete occlusion of the vessel was documented in all. After 10 years since the procedure, CT revealed a persistent trivial residual shunt through the accessory hemiazygos vein in one patient, in whom the device was implanted above its drainage into the left superior caval vein. When an Amplatzer® Vascular Plug type-1 is oversized compared with the venous vessel diameter, it immediately assumes a dog-bone shape that disappears early to regain its shape memory and nominal size.

Percutaneous occlusion of left superior caval vein draining into the left atrium has excellent early and long-term outcomes. The optimal implantation of the device is below the drainage of the accessory hemiazygos vein, when present. The device might be oversized compared with the left superior caval vein diameter according to the age of the patient.

Tetralogy of Fallot with absent pulmonary valve syndrome is a rare form of tetralogy of Fallot with dilatation of large pulmonary arteries. Prognosis is related to the severity of the cardiac malformation and to bronchial tree compression by dilated pulmonary arteries. This study analyses the prenatal echographic lung appearance in fetuses with tetralogy of Fallot with absent pulmonary valve and discusses its significance.

We carried out a retrospective review of fetal and postnatal files of nine fetuses diagnosed with tetralogy of Fallot with absent pulmonary valve syndrome in our institution. Correlations of prenatal ultrasound and cardiac imaging findings were obtained with outcome.

Abnormal heterogeneous fetal lung echogenicity was detected in eight cases out of nine, always associated with significant lobar arterial dilatation. This aspect was well correlated with postnatal imaging and outcome in the four neonatal cases. The only fetus with normal lung echogenicity also had lower degree of pulmonary artery dilatation in the series.

This study demonstrates that a heterogeneous ultrasound appearance of the fetal lungs can be detected in utero in the most severe cases. This aspect suggests an already significant compression of the fetal bronchial tree by the dilated arteries that may have prognostic implications.