Arrhythmogenic right ventricular cardiomyopathy is characterised by progressive, fibrofatty replacement of myocardium, and ventricular arrhythmias, and its prognosis is usually poor. Arrhythmogenic right ventricular cardiomyopathy associated with atrial septal defect is very rare, and this combination may make the diagnosis, treatment, and prognosis difficult. We present a case of a patient with this association who underwent interventional treatment with a septal defect occluder. Transcatheter closure of atrial septal defect in a patient with arrhythmogenic right ventricular cardiomyopathy is hitherto unreported. During a 3-year follow-up he remained relatively stable. We also review the cases reported in the medical literature describing this uncommon association between arrhythmogenic right ventricular cardiomyopathy and atrial septal defect or patent foramen ovale.

Sudden cardiac death in the young is a relatively uncommon but marked event usually related to congenital diseases or anomalies. Despite the prevalence of each condition being variable, most common causes include primary myocardial diseases and arrhythmic disorder, frequently with inheritance pattern. Sudden cardiac death is usually preceded by symptoms, thus making personal and family history fundamental for its prevention. Nevertheless, in more than 50% of cases, sudden cardiac death is the first manifestation of the disease. In this review, we describe the different causes of sudden cardiac death, their incidence, and currently used preventive strategies.

Interest in brain natriuretic peptide (BNP) and N-terminal pro-brain natriuretic peptide (NT-proBNP) in the management of children with CHD has increased. There are, however, no current guidelines for their routine use. The aim of this review article is to provide an update on the data regarding the use of BNP/NT-proBNP in the evaluation and surgical treatment of children with CHD. BNP/NT-proBNP levels in children with CHD vary substantially according to age, laboratory assay methods, and the specific haemodynamics associated with the individual congenital heart lesion. The accuracy of BNP/NT-proBNP as supplemental markers in the integrated screening, diagnosis, management, and follow-up of CHD has been established. In particular, the use of BNP/NT-proBNP as a prognostic indicator in paediatric cardiac surgery has been widely demonstrated, as well as its role in the subsequent follow-up of surgical patients. Most of the data, however, are derived from single-centre retrospective studies using multivariable analysis; prospective, randomised clinical trials designed to evaluate the clinical utility and cost-effectiveness of routine BNP/NT-proBNP use in CHD are lacking. The results of well-designed, prospective clinical trials should assist in formulating guidelines and expert consensus recommendations for its use in patients with CHD. Finally, the use of new point-of-care testing methods that use less invasive sampling techniques – capillary blood specimens – may contribute to a more widespread use of the BNP assay, especially in neonates and infants, as well as contribute to the development of screening programmes for CHD using this biomarker.

Cardiac catheterisation in congenital heart disease is a developing field. Patients’ ages range from foetus to adulthood. This document is a revision and update of the previously published recommendations and summarises the requirements for training in diagnostic and interventional cardiac catheterisation.

Introduction: Persistent foetal tachyarrythmias complicated by hydrops fetalis carry a poor prognosis, with foetal death reported in excess of a quarter despite treatment. We present our experience with direct intraperitoneal amiodarone administration in eight hydropic foetuses with resistant supraventricular tachycardia. Methods: Amiodarone was injected slowly into foetal peritoneal cavity under ultrasound guidance. All mothers were loaded with oral amiodarone before the procedure and maintained on it. The procedure was repeated guided by foetal rhythm. Result: All eight cases had severe hydrops with a median foetal heart rate of 255 bpm (range 240–300 bpm), and the median gestational age was 27+1 weeks (range 21–33+3 weeks) at presentation. In six cases, the average time for supraventricular tachycardia to revert to sinus rhythm from the first procedure was 11.5 days. In one case, intravascular injection of amiodarone into the umbilical vein was performed before intraperitoneal injection, which resulted in conversion to sinus rhythm sustained until delivery. In the last case, supraventricular tachycardia and severe hydrops persisted and the baby was delivered 5 days later at 34 weeks’ gestation. Hydrops resolved in five foetuses with a mean resolution time of 28.4 days. The mean gestational age at delivery was 34+5 days and seven of eight cases survived beyond the neonatal period with good postnatal outcomes. Conclusion: Intraperitoneal administration of amiodarone is a relatively simple and effective strategy in refractory supraventricular tachycardia complicated by severe hydrops. The intraperitoneal route assures delivery of the drug to the severely hydropic foetus and enables a bolus dose to be delivered for sustained absorption.

Objective: Protocols for the placement of temporary pacing wires vary among institutions. Our current protocol is to selectively place temporary pacing wires in those patients who develop haemodynamically significant intra-operative arrhythmia. We wished to identify how effective our current protocol is at identifying who will develop post-operative arrhythmia and need temporary pacing wires. Methods: The charts of 880 patients over 8 years who underwent cardiopulmonary bypass were reviewed to find patients who developed intra-operative arrhythmia, had temporary pacing wires placed, and whether or not they developed post-operative arrhythmia and required utilisation of the pacing wires. Results: A total of 87 (9.9%) out of 880 patients who required cardiopulmonary bypass over 8 years had intra-operative arrhythmia and had temporary pacing wires placed. Of these, 59 (67.8%) had post-operative arrhythmia and utilised the pacing wires, whereas 28 (32.2%) did not have post-operative arrhythmia or utilise the pacing wires. In all, seven patients who did not have intra-operative arrhythmia or temporary pacing wires placed developed post-operative arrhythmia. Conclusion: Intra-operative arrhythmia is predictive of post-operative arrhythmia (70.2%) and our protocol is a sensitive means of identifying those who will develop post-operative arrhythmia (89.3%).

Objective: To establish whether the use of near-infrared spectroscopy is potentially beneficial in high-risk cardiac infants in United Kingdom paediatric intensive care units. Design: A prospective observational pilot study. Setting: An intensive care unit in North West England. Patients: A total of 10 infants after congenital heart surgery, five with biventricular repairs and five with single-ventricle physiology undergoing palliation. Interventions: Cerebral and somatic near-infrared spectroscopy monitoring for 24 hours post-operatively in the intensive care unit. Measurement and main results: Overall, there was no strong correlation between cerebral near-infrared spectroscopy and mixed venous oxygen saturation (r=0.48). At individual time points, the correlation was only strong (r=0.74) 1 hour after admission. The correlation was stronger for the biventricular patients (r=0.68) than single-ventricle infants (r=0.31). A strong inverse correlation was demonstrated between cerebral near-infrared spectroscopy and serum lactate at 3 of the 5 post-operative time points (1, 4, and 12 hours: r=−0.76, −0.72, and −0.69). The correlation was stronger when the cerebral near-infrared spectroscopy was <60%. For cerebral near-infrared spectroscopy <60%, the inverse correlation with lactate was r=−0.82 compared with those cerebral near-infrared spectroscopy >60%, which was r=−0.50. No correlations could be demonstrated between (average) somatic near-infrared spectroscopy and serum lactate (r=−0.13, n=110) or mixed venous oxygen saturation and serum lactate. There was one infant who suffered a cardiopulmonary arrest, and the cerebral near-infrared spectroscopy showed a consistent 43 minute decline before the event. Conclusions: We found that cerebral near-infrared spectroscopy is potentially beneficial as a non-invasive, continuously displayed value and is feasible to use on cost-constrained (National Health Service) cardiac intensive care units in children following heart surgery.

Background: Lesions of adjacent structures have been reported after closure of large atrial septal defects with the Amplatzer septal occluder. In children, growth of the heart should modify the initial relationship between the device and surrounding structures. Aim: To compare the relationship between large Amplatzer septal occluder and adjacent cardiac structures at short-, mid-, and long-term follow-up in at-risk paediatric population using echocardiography. Methods: A total of 25 children (4.6±2.9 years old, 18 girls) with the largest atrial septal defect devices implanted between 1997 and 2002 were enrolled prospectively for complete echocardiogram 17.8±10.5 months (mid-term follow-up) and 8.8±0.9 years (long-term follow-up) after the procedure. Results were compared with the echocardiogram carried out 2.1±3.4 days after the procedure (short-term follow-up). Results: The minimal distance between the left disk and the mitral valve increased: 1.4±2.0 mm at short-term and 5.1±2.3 mm at long-term follow-up (p<0.05), leading to less contact between the disk and the anterior leaflet and less mitral regurgitation (10 at short-term, 4 at long-term follow-up, p<0.05). The number of devices straddling the aorta decreased from 17 to 12 at long-term follow-up (p<0.05). There was protrusion of disk in the venous structure in seven patients on the first echocardiogram, which disappeared at long-term follow-up. Conclusion: Although frequently in close contact with the aortic root, mitral valve, or venous returns, large devices tend to centre and move away from the surrounding structures, with decreased risk for long-term distortion.

Background: We evaluated whether quality of life correlates to age and activity in children following heart transplantation. In addition, quality of life in children following heart transplantation was compared with previously reported values in children with congenital heart disease. Quality of life remains an important aspect of therapy. Methods: The Pediatric Quality of Life Inventory Generic Core Scales and Cardiac Module were administered to 14 children who had previously undergone heart transplantation. Patients wore a pedometer for 7 days to assess daily activity. Results: The age at assessment was 13.1±1.9 years. The patients were 7.1±5.7 years post heart transplantation. There was a negative correlation between age at first heart transplantation and emotional (r=−0.64; p<0.05) and school function (r=−0.57; p<0.05). A negative correlation between patient’s age at assessment and perceived physical appearance existed (r=−0.53; p<0.05). Daily steps negatively correlated with cognitive (r=−0.58; p<0.05), physical (r=−0.63; p<0.05), emotional (r=−0.62; p<0.05), and school function (r=−0.66; p<0.01). Heart transplantation patients reported better scores for treatment and symptoms (p<0.05) but lower physical health scores (p<0.01) than those with moderate congenital heart disease. Conclusions: Paediatric heart transplantation patients reported overall similar quality of life as patients with moderate congenital heart disease. Children receiving heart transplants at an older age may require additional emotional and educational support. Heart transplantation patients with higher activity levels may be more aware of their physical, emotional, and cognitive limitations, and thus score lower on these quality of life indicators.

The objective of the study was to compare the change in diastolic function, E/A ratio, in response to prolonged exercise in low birth weight and normal birth weight individuals. Using a case–control study design, 23 students of the University of Zimbabwe College of Health Sciences who had neonatal clinic cards as proof of birth weight were recruited into the study. Measurements of diastolic function, E/A ratio, were obtained using an echocardiogram before and after 75 minutes of exercise. Among the cohort, seven had low birth weight – <2500 g, three female patients and four male patients – and 16 had normal birth weight – six female patients and 10 male patients). The mean age was 20.7±3.3 years. After prolonged exercise for 75 minutes of running on a treadmill, decreases in diastolic function, E/A ratio, were significantly greater in low birth weight than in normal birth weight individuals (0.48±0.27 versus 0.19±0.18 p<0.05, respectively). There was a significant association between low birth weight and exercise-induced cardiac fatigue (the χ2 test p<0.05, odds ratio 4.64, 95% confidence interval 1.19–18.1). We conclude that low birth weight is associated with exercise-induced diastolic dysfunction in young adults.

Aim: Evaluation of possibilities of percutaneous closure of recanalised left superior caval vein after total cavopulmonary connection. Methods and Results: We analysed 19 patients after total cavopulmonary connection catheterised because of a sudden increase of desaturation. In four of them, the recanalisation of the left superior caval vein was identified. For this reason, the balloon occlusion tests of the veins were made temporarily. In all cases, the haemodynamic status of patients did not change, and arterial oxygen saturation increased significantly. Thus, using different types of implants, these veins were closed effectively in all patients. During the short-term follow-up, the effectiveness of treatments and constantly maintaining a high level of saturation were confirmed. Conclusions: Meticulous investigation of unclear causes of desaturation in cyanotic patients after Fontan completion is necessary. Almost all causes of desaturation, including recanalised additional left superior caval vein, can be effectively treated percutaneously.

Background: Percutaneous closure of patent ductus arteriosus has become the treatment of choice in many centres. In patients with large ducts and pulmonary hypertension, transcatheter closure has been achieved with success using the Amplatzer Duct Occluder or even the Amplatzer Muscular Ventricular Septal Defect Occluder. Materials and methods: We present a series of 17 patients with large and hypertensive ductus arteriosus who were treated with an Amplatzer Septal Occluder. The group had 11 female patients (64.7%) and a mean age of 18.6±12.1 years. Results: The haemodynamic and anatomical data are as follows: pulmonary artery systolic pressure 71.3±31.8 mmHg, pulmonary to systemic flow ratio 3.14±1.36, ductal diameter at the pulmonary end 12.5±3.8 mm, and at the aortic end 20.2±7.7 mm; 14 cases (82.3%) had type A ducts. In 11 patients, we began the procedure using a different device – six with duct occluder and five with ventricular septal occluder – and it was changed because of device embolisation in six (35.3%). All septal occluders were delivered successfully. Residual shunt was moderate in six patients (35.3%), mild in eight (47%), trivial in two (11.8%), and no shunt in one (5.9%). Pulmonary systolic pressure decreased to 48.9±10.8 mmHg after occlusion (p=0.0015). Follow-up in 15 patients (88.2%) for 28.4±14.4 months showed complete closure in all cases but one, and continuous decrease of the pulmonary systolic pressure to 31.4±10.5 mmHg. No complications at follow-up have been reported. Conclusions: The Amplatzer Septal Occluder is a good alternative to percutaneously treat large and hypertensive ductus arteriosus.

Objectives: Insulin-like growth factor-1 may serve some regulatory function in the immune system. Rheumatic mitral stenosis is related to autoimmune heart valve damage after streptococcal infection. The aim of this study was to assess the level of insulin-like growth factor-1 and its correlation with the Wilkins score in patients with rheumatic mitral stenosis. Methods: A total of 65 patients with rheumatic mitral stenosis and 62 age- and sex-matched control subjects were enrolled in this study. All subjects underwent transthoracic echocardiography. The mitral valve area and Wilkins score were evaluated for all patients. Biochemical parameters and serum insulin-like growth factor-1 levels were measured. Results: Demographic data were similar in the rheumatic mitral stenosis and control groups. The mean mitral valve area was 1.6±0.4 cm2 in the rheumatic mitral stenosis group. The level of insulin-like growth factor-1 was significantly higher in the rheumatic mitral stenosis group than in the control group (104 (55.6–267) versus 79.1 (23.0–244.0) ng/ml; p=0.039). There was a significant moderate positive correlation between insulin-like growth factor-1 and thickening of leaflets score of Wilkins (r=0.541, p<0.001). Conclusions: The present study demonstrated that serum insulin-like growth factor-1 levels were significantly higher in the rheumatic mitral stenosis group compared with control subjects and that insulin-like growth factor-1 level was also correlated with the Wilkins score. It can be suggested that there may be a link between insulin-like growth factor-1 level and immune pathogenesis of rheumatic mitral stenosis.

Aim: The use of β-blocker therapy in asymptomatic patients with hypertrophic cardiomyopathy is controversial. This study evaluates the effect of lifestyle changes and high-dose β-blocker therapy on their exercise capacity. Methods and results: A total of 29 consecutive newly diagnosed asymptomatic patients with familial hypertrophic cardiomyopathy, median age 15 years (range 7–25), were recruited. In all, 16 patients with risk factors for sudden death were treated with propranolol if no contraindications, or equivalent doses of metoprolol; 13 with no risk factors were randomised to metoprolol or no active treatment. Thus, there were three treatment groups, non-selective β-blockade (n=10, propranolol 4.0–11.6 mg/kg/day), selective β-blockade (n=9, metoprolol 2.7–5.9 mg/kg/day), and randomised controls (n=10). All were given recommendations for lifestyle modifications, and reduced energetic exercise significantly (p=0.002). Before study entry, and after 1 year, all underwent bicycle exercise tests with a ramp protocol. There were no differences in exercise capacity between the groups at entry, or follow-up, when median exercise capacity in the groups were virtually identical (2.4, 2.3, and 2.3 watt/kg and 55, 55, and 55 watt/(height in metre)2 in control, selective, and non-selective groups, respectively. Maximum heart rate decreased in the selective (−29%, p=0.04) and non-selective (−24%, p=0.002) groups. No patient developed a pathological blood-pressure response to exercise because of β-blocker therapy. Boys were more frequently risk-factor positive than girls (75% versus 33%, p=0.048) and had higher physical activity scores than girls at study-entry (p=0.011). Conclusions: Neither selective nor non-selective β-blockade causes significant reductions in exercise capacity in patients with hypertrophic cardiomyopathy above that induced by lifestyle changes.

Introduction: Cyanotic congenital heart disease is associated with functional limitation and vascular events. The nature and extent of endothelial dysfunction in cyanotic adults is poorly understood. We sought to characterise endothelial function in this setting. Methods: A total of fourteen adults with cyanotic congenital heart disease (40±3 years) together with age- and sex-matched healthy controls underwent assessment of nitric oxide-dependent vascular responses, including flow-mediated dilatation of the brachial artery and dynamic vessel analysis of the retina in response to flickering light. Plasma levels of the endothelium-derived vasoconstrictor endothelin-1 and the nitric oxide antagonist, asymmetric dimethylarginine, were measured. Circulating endothelial progenitor cells were assessed by flow cytometry. Results: Flow-mediated dilatation was significantly lower in cyanosed adults than controls (4.0±0.8 versus 7.2±1.0%, p=0.019, n=11 per group). Retinal arterial and venous dilatory responses were also impaired (2.9±0.8 versus 5.0±0.6%, p=0.05 and 3.4±0.3 versus 5.2±0.7%, p=0.04, n=13). Serum levels of endothelin-1 and asymmetric dimethylarginine were higher in cyanosed adults (3.0±0.6 versus 1.1±0.1 pg/ml, p=0.004 and 0.68±0.05 versus 0.52±0.02 μmol/L, p=0.03, n=11). Endothelial progenitor cells (CD34+CD45dimCD133+KDR+) were reduced in those with chronic cyanosis (17±4 versus 40±6 per million white blood cells, p=0.005, n=11). Conclusions: Endothelial function is impaired in the systemic arteries and retinal vessels in adults with cyanotic congenital heart disease, suggesting a widespread endotheliopathy. Diminished numbers of endothelial progenitor cells might potentially contribute to these observations.

Physical activity tends to be lower in school-age children with congenital heart disease than in healthy controls. To the best of our knowledge, objectively measured physical activity levels of preschool-age children with congenital heart disease have not been studied. Methods: A total of 10 children with either coarctation of the aorta (n=6; age 3.8±0.9) or tetralogy of Fallot (n=4, age 4.3±0.9) were recruited from the cardiology unit of McMaster Children’s Hospital. Height (103.7±8.2 cm) and weight (17.3±2.7 kg) measurements were recorded, and physical activity was determined using accelerometry over 7 consecutive days. Patients were compared with age-, sex-, and season of data acquisition-matched controls. Parents completed a questionnaire regarding the child’s physical activity and sedentary behaviours. Results: Patients spent on average 219.4±39.9 minutes engaged in total physical activity per day at the following intensities: light, 147.5±22.3; moderate, 44.0±11.8; moderate-to-vigorous, 71.9±22.6; and vigorous, 27.9±11.7. No significant differences were observed between patients and controls for total physical activity (p=0.80) or any of the intensities (p=0.71, 0.46, 0.43, and 0.45, respectively). Only 40% of patients and controls met the new Canadian Physical Activity Guidelines for the Early Years of at least 180 minutes of physical activity at any intensity every day. Of the patients’ parents, 90% believed that their child was as active, if not more active, than his/her siblings, and 80% of parents reported their child spending 1–3 hours in screen time activities daily. Conclusion: Children aged 3–5 years old with congenital heart disease have comparable physical activity levels to age-, sex-, and season-matched controls, and many do not meet Canadian Physical Activity Guidelines.

Purpose: This study aims to evaluate the health-related quality of life of adolescents with congenital heart disease, describing health-related quality of life according to the diagnosis and severity of congenital heart disease, identified by variables such as the presence of symptoms, surgical interventions, use of medication, and residual lesion. Methods: A cross-sectional study was conducted on 203 adolescents with congenital heart disease attended at the Pediatric Cardiology ambulatory of a reference hospital in Brazil. The Brazilian version of the questionnaire KIDSCREEN-27 was used for the assessment of health-related quality of life. Information related to the congenital heart disease diagnosis and clinical variables were collected from the medical records of the patients. Results: There was no statistically significant difference between acyanotic and cyanotic groups, as well as for the different diagnosis of congenital heart disease. A trend for better health-related quality of life in the dimension of Psychological Well-Being (p=0.054) was found in the groups with surgical intervention and use of medication. Adolescents that referred a good general health presented significantly better results in all dimensions of health-related quality of life, except for Autonomy and Parent Relation, than those who presented clinical symptoms (p<0.05). Conclusions: Type of congenital heart disease and initial diagnosis did not seem to affect the perception of health-related quality of life, corroborating findings of several studies. Surgical interventions and the use of medication can improve previous clinical status, and therefore it seems to be beneficial in terms of Psychological Well-Being. The presence of clinical symptoms was the variable that caused the largest impact on the perception of health-related quality of life, possibly because of the impairment they bring to the daily lives of these patients.

Background: Childhood obesity has increased in the last half of the century. The aim of this study was to evaluate the frequency of obesity in the children with congenital or acquired heart disease. Methods: A total of 1410 children were assessed in this study. The study population was composed of 518 children (289 boys, 229 girls) as control group and 892 children (477 boys, 415 girls) as heart disease group. Patients were grouped into four categories: (I) “Clinic control subjects”; (II) “mild heart disease” that has not been treated with either surgical or catheter intervention; (III) congenital heart disease treated with surgical and/or catheter intervention; and (IV) “arrhythmias”. A body mass index ⩾85th percentile was defined as overweight, ⩾95th percentile as obese, and <5th percentile was defined as underweight. Results: We did not detect any association between heart disease and obesity. There was no difference in the rates of overweight, obesity, and underweight between the healthy control subjects and patients with heart disease (8.1%, 13.3%, and 5.0%; 9.0%, 10.7%, and 4.7%, respectively, p=0.145). All subgroups had a similar prevalence of underweight, overweight, and obesity as the healthy control population. Within the heart disease population, the overall prevalence rates for overweight, obesity, and underweight were similar between the boys and girls. Conclusion: Obesity is a common problem in children with heart disease, at least in general population. It is an important additional risk factor for long-term cardiovascular morbidity and mortality in children with heart disease. Precautions to prevent obesity should be a part of paediatric cardiologist’s examination.

Background: Of the children with Down syndrome 40–50% have cardiac defects and the majority of these cardiac defects are amenable to biventricular repair. The outcome of single ventricle palliation is improving; nonetheless, there are limited data on Down syndrome patients with associated high-risk factors undergoing single ventricle palliation. Our aim was to study the outcomes of children with Down syndrome and high-risk factors on the single ventricle palliation pathway. Methods: A retrospective study on all patients with Down syndrome on the single ventricle palliation pathway from 2005 until 2011 was conducted. Operative, clinical, echocardiographic, haemodynamic data, and follow-up data were reviewed. Results: A total of 310 patients underwent at least one single ventricle surgical intervention. Of those, eight patients had Down syndrome, five of which had associated risk factors – low birth weight, high pulmonary vascular resistance, pulmonary vein stenosis, significant atrioventricular valve regurgitation, and extracardiac anomalies. Mortality in the high-risk group was 80% (4/5), compared with 33% (1/3) in the non-high-risk patients. Overall, after a median follow-up period of 138 days (8–576 days), only 37.5% (3/8) of patients were alive. Conclusion: Despite many improvements in the care of single ventricle patients, the fate of those with Down syndrome and associated high-risk factors remains poor. Further multicentre longer-term studies are needed to validate and quantify the cumulative effects of negative prognostic factors in this complex group of patients.

Asymptomatic isolated congenital left ventricular diverticulum: a cardiac MRI report about a 19-year-old man.