The Fontan circulation is the optimal treatment for patients with univentricular hearts. These patients are at high risk of circulatory failure. There is no consensus on the optimal drug treatment for the prevention of failure of the Fontan circulation. The aim of this systematic review was to provide an overview of evidence for drug therapy used in the prevention of Fontan circulatory failure.

We searched the Embase database for articles that reported drug therapy in Fontan patients. Studies published between 1997 and 2014 were included if efficacy or safety of medication was assessed, drug therapy aimed to prevent or treat failure of the Fontan circulation, and if the full text was available. Case reports were excluded.

A total of nine studies were included with a total of 267 Fontan patients; four studies evaluated the medication sildenafil, one iloprost, three bosentan, and one enalapril. Among all, two sildenafil studies reported improvement in exercise capacity, one in exercise haemodynamics, and one in ventricular performance. In the largest study of bosentan, an increase in exercise capacity was found. Enalapril did not result in improvements.

The studies analysed in this review suggest that bosentan, sildenafil, and iloprost may improve exercise capacity at the short term. Given the limitations of the studies, more, larger, placebo-controlled studies with longer follow-up periods are needed to better understand which drug therapies are effective in the prevention of failure of the Fontan circulation.

Surgical correction was the treatment of choice for pulmonary stenosis until three decades ago, when balloon valvuloplasty was implemented. The natural history of surgically relieved pulmonary stenosis has been considered benign but is actually unknown, as is the need for re-intervention.

The objective of this study was to investigate the morbidity and mortality of patients with surgically treated pulmonary stenosis operated at Aarhus University Hospital between 1957 and 2000.

The total study population included 80 patients. In-hospital mortality was 2/80 (2.5%), and an additional four patients died after hospital discharge; therefore, the long-term mortality was 5%. The maximum follow-up period was 57 years, with a median of 33 years. In all, 16 patients (20%) required at least one re-intervention. Pulmonary valve replacement due to pulmonary regurgitation was the most common re-intervention (67%). Freedom from re-intervention decreased >20 years after the initial repair. In addition, 45% of patients had moderate/severe pulmonary regurgitation, 38% had some degree of right ventricular dilatation, and 40% had some degree of tricuspid regurgitation, which did not require re-intervention at the present stage.

Surgical relief for pulmonary stenosis is efficient in relieving outflow obstruction; however, this efficiency is achieved at the cost of pulmonary regurgitation, leading to right ventricular dilatation and tricuspid regurgitation. When required, pulmonary valve replacement is performed most frequently >20 years after the initial surgery. Lifelong follow-up of patients treated surgically for pulmonary stenosis is emphasised in this group of patients, who might otherwise consider themselves cured.

The effect of Hybrid stage 1 palliation for hypoplastic left heart syndrome on right ventricular function is unknown. We sought to compare right ventricular function in normal neonates and those with hypoplastic left heart syndrome before Hybrid palliation and to assess the effect of Hybrid palliation on right ventricular function, using the right ventricular myocardial performance index and the ratio of systolic and diastolic durations.

We carried out a retrospective review of echocardiographic data on 23 infants with hypoplastic left heart syndrome who underwent Hybrid palliation and 35 normal controls. Data were acquired before Hybrid and after Hybrid palliation – post 1, 0–4 days; post 2, 1 week; post 3, 2–3 weeks; post 4, 1–1.5 months following Hybrid palliation.

Myocardial performance index and ratio of systolic and diastolic durations were higher in the pre-Hybrid hypoplastic left heart syndrome group (n=23) – 0.47±0.16 versus 0.25±0.07, p<0.001; 1.59±0.44 versus 1.09±0.14, p<0.0001 – compared with controls (n=35). There was no significant change in the myocardial performance index at any of the post-Hybrid time points. Ratio of systolic and diastolic durations increased significantly 2 weeks after Hybrid – post 3: 2.08±0.62 and post 4: 2.21±0.45 versus pre: 1.59±0.44, p=0.043 and 0.003. There were no significant differences in parameters between sub-groups of infants who died (n=10) and survivors (n=13).

Right ventricular myocardial performance index and ratio of systolic and diastolic durations were significantly higher in infants with hypoplastic left heart syndrome before intervention compared with controls. The ratio of systolic and diastolic durations increased significantly 2 weeks after Hybrid palliation. Our data suggest that infants with hypoplastic left heart syndrome have right ventricular dysfunction before intervention, which worsens over 2 weeks after Hybrid palliation.

Limited data exist on the vitamin D status in Fontan patients. We determined the prevalence and potential risk factors of vitamin D deficiency in this patient subset.

Data were collected from 27 Fontan patients (55.6% male, mean age 8.1±5.3 years). Protein-losing enteropathy was diagnosed in six patients (22.2%). Vitamin D deficiency was defined as a serum 25-hydroxyvitamin D level of <20 ng/ml. The neutrophil-to-lymphocyte ratio, a marker of systemic inflammation, was calculated. Associations between laboratory measurements and patient characteristics were explored. Mean serum 25-hydroxyvitamin D level was 14.1±10.4 ng/ml. Vitamin D deficiency was found in 19/27 patients (70.3%). Only skin type was associated with vitamin D deficiency (p=0.04). Hyperparathyroidism was present in 5/21 (23.8%) patients, and was more prevalent in patients with protein-losing enteropathy (p<0.001). Parathyroid hormone levels correlated with parameters of systemic inflammation (neutrophil-to-lymphocyte ratio: r=0.484, p=0.026; relative lymphocyte count: r=−0.635, p=0.002). Vitamin D supplementation significantly increased serum 25-hydroxyvitamin D levels (p<0.0001), and was accompanied by a reduction in parathyroid hormone concentrations (p=0.032).

A high prevalence of vitamin D deficiency was found among Fontan patients, independent of age, time after Fontan procedure, ventricular morphology, and presence of protein-losing enteropathy. A potentially important link between parathyroid hormone levels and systemic inflammation is suggested.

This study aimed to evaluate the incidence of cardiac disorders among children with mid-exertional syncope evaluated by a paediatric cardiologist, determine how often a diagnosis was not established, and define potential predictors to differentiate cardiac from non-cardiac causes.

We carried out a single-centre, retrospective review of children who presented for cardiac evaluation due to a history of exertional syncope between 1999 and 2012. Inclusion criteria included the following: (1) age ⩽18 years; (2) mid-exertional syncope; (3) electrocardiogram, echocardiogram and an exercise stress test, electrophysiology study, or tilt test, with exception of long QT, which did not require additional testing; and (4) evaluation by a paediatric cardiologist. Mid-exertional syncope was defined as loss of consciousness in the midst of active physical activity. Patients with peri-exertional syncope immediately surrounding but not during active physical exertion were excluded.

A total of 60 patients met the criteria for mid-exertional syncope; 32 (53%) were diagnosed with cardiac syncope and 28 with non-cardiac syncope. A majority of cardiac patients were diagnosed with an electrical myopathy, the most common being Long QT syndrome. In nearly half of the patients, a diagnosis could not be established or syncope was felt to be vasovagal in nature. Neither the type of exertional activity nor the symptoms or lack of symptoms occurring before, immediately preceding, and after the syncopal event differentiated those with or without a cardiac diagnosis.

Children with mid-exertional syncope are at risk for cardiac disease and warrant evaluation. Reported symptoms may not differentiate benign causes from life-threatening disease.

Previous studies investigating the known risk factors of atherosclerosis in phenylketonuria patients have shown conflicting results. The primary aim of our study was to investigate the serum atherogenic markers in adolescent classical phenylketonuria patients and compare these parameters with healthy peers. The secondary aim was to compare these atherogenic markers in well-controlled and poorly controlled patients.

A total of 59 patients (median age: 12.6 years, range: 11–17 years) and 44 healthy controls (median age: 12.0 years, range: 11–15 years) were enrolled in our study. Phenylketonuria patients were divided into two groups: well-controlled (serum phenylalanine levels below 360 µmol/L; 24 patients) and poorly controlled patients (serum phenylalanine levels higher than 360 µmol/L).

The mean high-density lipoprotein cholesterol levels of well-controlled patients (1.0±0.2 mmol/L) were significantly lower compared with poorly controlled patients and controls (1.1±0.2 mmol/L, p=0.011 and 1.4±0.2 mmol/L, p<0.001, respectively). Poorly controlled patients had lower high-density lipoprotein cholesterol levels than healthy controls (p=0.003). Homocysteine levels of both well-controlled (9.8±6.4 µmol/L) and poorly controlled (9.2±5.6 µmol/L) patients were higher compared with controls (5.8±1.8 µmol/L, p<0.01). The mean platelet volume of well-controlled patients (9.5±1.1 fL) was higher than that of poorly controlled patients and controls (8.9±0.8 fL, p=0.024 and 7.7±0.6 fL, p<0.001, respectively).

Lower high-density lipoprotein cholesterol and higher homocysteine and mean platelet volume levels were detected in phenylketonuria patients. In particular, these changes were more prominent in well-controlled patients. We conclude that phenylketonuria patients might be at risk for atherosclerosis, and therefore screening for atherosclerotic risk factors should be included in the phenylketonuria therapy and follow-up in addition to other parameters.

Adult patients with CHD often require complex operations, and indications for particular aspects of the operation are sometimes unclear. The aims of our study were as follows: to characterise concomitant procedures performed during adult congenital cardiac surgery, and to better define the risk involved with performing concomitant procedures during a single operation.

We retrospectively studied 458 adult congenital cardiac surgical patients. Major procedures were characterised as aortic, mitral, pulmonary, tricuspid, septal defect, single ventricle, transplant, and others. We constructed logistic regression models to assess the risk for mortality, major adverse event, and prolonged length of stay.

A total of 362 operations involved a single major procedure, whereas 96 involved concomitant procedures. Performing concomitant procedures increased mortality (7.3 versus 2.5%), major adverse events (21.8 versus 14.9%), and prolonged length of stay (29.2 versus 17.1%). The added risks of concomitant procedures on mortality, major adverse event, and prolonged length of stay were 2.9 (95% CI 1.0–8.5, p=0.05), 1.9 (95% CI 1.1–3.3, p=0.02), and 2.4 (95% CI 1.4–4.1, p=0.003), respectively. There were 200 patients with conotruncal anomalies who underwent pulmonary valve surgery. In this subset, the added risks of concomitant procedures in addition to pulmonary valve surgery on mortality, major adverse events, and prolonged length of stay were 6.6 (95% CI 1.2–37.3, p=0.03), 2.8 (95% CI 1.2–6.6, p=0.03), and 3.3 (95% CI 1.5–7.4, p=0.005), respectively.

Concomitant procedures performed during adult congenital heart surgery increase risk. Awareness of this risk may improve surgical decision making and outcomes.

The aim of this study was to describe the clinical characteristics, progression, treatment, and outcomes in isolated coronary artery fistula cases diagnosed prenatally.

We carried out a retrospective review of babies diagnosed prenatally with coronary artery fistulas between January, 2000 and December, 2013; five fetuses were included. Echocardiographic features and measurements were noted during pregnancy and after birth. Treatment and outcome were noted.

Gestational age at initial diagnosis was between 19 and 22 weeks; four coronary artery fistulas originated from the right and one from the left circumflex coronary artery. Drainage was into the right atrium in four cases and into the left ventricle in one case. There was cardiomegaly in two cases at the initial scan. The size of the fistulas increased during pregnancy in all except one. All prenatal diagnoses were confirmed postnatally. Among all, two patients developed congestive cardiac failure soon after birth and required transcatheter closure of the coronary artery fistula, 5 and 17 days after birth, respectively; three patients remained asymptomatic, and all of them showed progressive dilation of the feeding artery and had closure of the fistula at 20 months, 4 years, and 7 years of age, respectively. During the follow-up period, which ranged 2–14 years, all the patients were alive and well.

Coronary artery fistulas can be diagnosed accurately during fetal life. Some babies may develop congestive cardiac failure soon after birth requiring early treatment. Those treated conservatively should be kept under review as intervention may be required later.

Approximately 6000 children are born with CHD in Germany each year. It is increasingly rare that these children die from their chronic illness. In the present study, data recorded in the National Register for Congenital Heart Defects with respect to the prevalence of specific lesions and sex distribution are compared with that recorded in a published German prevalence study (Prevalence Study) and with the meta-analysis by van der Linde et al.

A descriptive data analysis was performed using a minimal data set. The demographic data included sex and birth year; the medical data comprised the cardiovascular diagnosis according to the short list of the International Paediatric and Congenital Cardiac Code.

As the data analysis shows, the National Register is a clinical register including primarily clinical cases/cases relevant to healthcare. The prevalence values and sex ratios recorded in the register are closer to the values given in the literature than those determined by the Prevalence Study. Severe CHD was slightly over-represented in the National Register compared with the van der Linde et al meta-analysis. The deviations with respect to prevalence values are within an acceptable range.

With its 48,000 patients, the National Register plays a unique and important role for research in the field of CHD. Samples from the National Register can be used as a gold standard for future studies, as the patient population registered in it can be considered representative of CHD in Germany and Europe.

Transcatheter cryoablation is a well-established technique for the treatment of atrioventricular nodal re-entry tachycardia and atrioventricular re-entry tachycardia in children. Fluoroscopy or three-dimensional mapping systems can be used to perform the ablation procedure. The aim of this study was to compare the success rate of cryoablation procedures for the treatment of right septal accessory pathways and atrioventricular nodal re-entry circuits in children using conventional or three-dimensional mapping and to evaluate whether three-dimensional mapping was associated with reduced patient radiation dose compared with traditional mapping.

In 2013, 81 children underwent transcatheter cryoablation at our institution, using conventional mapping in 41 children – 32 atrioventricular nodal re-entry tachycardia and nine atrioventricular re-entry tachycardia – and three-dimensional mapping in 40 children – 24 atrioventricular nodal re-entry tachycardia and 16 atrioventricular re-entry tachycardia.

Using conventional mapping, the overall success rate was 78.1 and 66.7% in patients with atrioventricular nodal re-entry tachycardia or atrioventricular re-entry tachycardia, respectively. Using three-dimensional mapping, the overall success rate was 91.6 and 75%, respectively (p=ns). The use of three-dimensional mapping was associated with a reduction in cumulative air kerma and cumulative air kerma–area product of 76.4 and 67.3%, respectively (p<0.05).

The use of three-dimensional mapping compared with the conventional fluoroscopy-guided method for cryoablation of right septal accessory pathways and atrioventricular nodal re-entry circuits in children was associated with a significant reduction in patient radiation dose without an increase in success rate.

The scimitar syndrome comprises hypoplastic right pulmonary artery and lung, anomalous right pulmonary venous drainage to the inferior caval vein, aortopulmonary collateral(s) to the right lung, and bronchial anomalies.

The aim of this study was to describe the morphological and clinical spectrum of variants from the classical scimitar syndrome in a single institution over 22 years.

In total, 10 patients were recognised. The most consistent feature was an aortopulmonary collateral to the affected lung (90%), but there was considerable variation in the site and course of pulmonary venous drainage. This was normal in 3 (one with meandering course), anomalous right to superior caval vein in 1, to the superior caval vein and inferior caval vein in 2, and to the superior caval vein and the left atrium in 1; one patient had a right pulmonary (scimitar) vein occluded at the insertion into the inferior caval vein but connected to the right upper pulmonary vein via a fistula. There were two left-sided variants, one with anomalous left drainage to the coronary sinus and a second to the innominate vein.

Among all, three patients had an antenatal diagnosis and seven presented between 11 and 312 months of age; 90% of the patients were symptomatic at first assessment.

All the patients underwent cardiac catheterisation; collateral embolisation was performed in 50% of the patients. Surgical repair of the anomalous vein was carried out in two patients, one patient had a right pneumonectomy, and one patient was lost to follow-up. There was no mortality reported in the remainder of patients during the study period.

The heterogeneity of this small series confirms the consistent occurrence of an anomalous arterial supply to the affected lung but considerable variation in pulmonary venous drainage.

Transcatheter pulmonary valve implantation is usually performed from a femoral venous – transfemoral – approach, but this may not be the optimal vascular access option in some patients. This study aimed to determine which group of patients might benefit from an internal jugular – transjugular – approach for transcatheter pulmonary valve implantation.

This multicentre retrospective study included all patients who underwent attempted transcatheter pulmonary valve placement in the right ventricular outflow tract between April 2010 and June 2012 at two large congenital heart centres. Patients were divided into two groups based on venous access site – transfemoral or transjugular. Patient characteristics, procedural outcomes, and complications were compared between groups.

Of 81 patients meeting the inclusion criteria (median age 16.4 years), the transjugular approach was used in 14 patients (17%). The transjugular group was younger (median age 11.9 versus 17.3 years), had lower body surface area (mean 1.33 versus 1.61 m2), more often had moderate or greater tricuspid regurgitation (29% versus 7%), and had a higher ratio of right ventricle-to-systemic systolic pressure (mean 82.4 versus 64.7). Patients requiring a transjugular approach after an unsuccessful transfemoral approach had longer fluoroscopic times and procedure duration.

The transjugular approach for transcatheter pulmonary valve implantation is used infrequently but is more often used in younger and smaller patients. Technical limitations from a transfemoral approach may be anticipated if there is moderate or greater tricuspid regurgitation or higher right ventricular pressures. In these patients, a transjugular approach should be considered early.

Thoracic endovascular aneurysm repair has been employed to treat late complications after aortic coarctation correction. However, its use in children has seldomly been reported.

We present the case of a 15-year-old child who presented with a ruptured aneurysm of the descending aorta complicated later by an aortic-oesophageal fistula following aortic coarctation stenting that was managed with multiple bridging endovascular interventions until a definitive repair was performed.

Thoracic endovascular aneurysm repair may be used successfully as a bridging intervention to a definitive repair in children with life-threatening aortic complications following aortic coarctation repair.

This study aimed to assess the psychological well-being and quality of life in children with hypertrophic cardiomyopathy and the potential psychosocial impact of screening.

A total of 152 children (aged 3–18 years) attending a specialist paediatric hypertrophic cardiomyopathy clinic, and their parents completed the Generic Core Scales and Cardiac Module of the Paediatric Quality of Life Inventory (PedsQL) questionnaire as well as the Strengths and Difficulties Questionnaire; 21 patients (14%) had hypertrophic cardiomyopathy (group A); 23 children (15%) harboured hypertrophic cardiomyopathy-causing sarcomeric mutations with normal echocardiograms (group G); and 108 children (71%) had a family history of hypertrophic cardiomyopathy with normal investigations and attended for clinical cardiological screening (group S).

In group A, mean PedsQLTM total scores reported by children and parents were lower than those reported by unaffected children (p<0.001). There was no significant difference between unaffected and gene-positive patients. Mean Cardiac module PedsQLTM total scores by children and parents were lower in children with hypertrophic cardiomyopathy compared with unaffected patients [mean child-reported total score 86.4 in group S versus 72.3 in group A (p<0.001) and 80.2 in group G (p=0.25); mean parent-reported total score 91.6 in group S versus 71.4 in group A (p<0.001) and 87 in group G (p=0.4)]. There was no significant difference between group S and group G on any of the scales, or between the three groups of patients in the mean Strengths and Difficulties Questionnaire scores.

Children with hypertrophic cardiomyopathy have a significantly reduced quality of life. Importantly, Quality-of-Life scores among unaffected children attending for screening were not different compared with scores from a normative UK population.