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.

Objectives: To evaluate long-term outcome of initial aortic valve intervention in a paediatric population with congenital aortic stenosis, and to determine risk factors associated with reintervention. Patients and methods: From 1985 to 2009, 77 patients with congenital aortic stenosis and a mean age of 5.8±5.6 years at diagnosis were followed up in our institution for 14.8±9.1 years. Results: First intervention was successful with 86% of patients having a residual peak aortic gradient <50 mmHg, and the proportion of patients with grade >1 regurgitation increased by 7%. Long-term survival after the first procedure was excellent, with 91% survival at 25 years. At a mean interval of 7.6±5.3 years, 30 patients required a reintervention (39%), mainly because of a recurrent aortic stenosis. Freedom from reintervention was 97, 89, 75, 53, and 42% at 1, 10, 15, 20, and 25 years, respectively. Predictors of reintervention were residual peak aortic gradient (p=0.0001), aortic regurgitation post-intervention >1 (p=0.02), prior balloon aortic valvuloplasty (p=0.04), and increased left ventricular posterior wall thickness (p=0.1). Conclusions: Aortic valve intervention is a safe and effective procedure for congenital aortic stenosis with excellent survival results. However, rate of reintervention is high and influenced by increased left ventricular posterior wall thickness pre-intervention, prior balloon valvuloplasty, higher residual peak systolic valve gradient, and more than mild regurgitation post-intervention. The study highlights that long-term follow-up is recommended for these patients.

Background: Children with decompensated heart failure are at high risk for arrhythmias, and ventricular assist device placement is becoming a more common treatment strategy. The impact of ventricular assist devices on arrhythmias and how arrhythmias affect the clinical course of this population are not well described. Methods and results: A single-centre retrospective analysis of children receiving a ventricular assist device between 1998 and 2011 was performed. In all, 45 patients received 56 ventricular assist devices. The median age at initial placement was 13 years (interquartile range 6–15). The median duration of support was 10 days (range 2–260). The aetiology of heart failure included cardiomyopathy, transplant rejection, myocarditis, and congenital heart disease. In all, 32 patients (71%) had an arrhythmia; 19 patients (42%) had an arrhythmia before ventricular assist device and eight patients (18%) developed new arrhythmias on ventricular assist device. Ventricular tachycardia was most common (25/32, 78%). There was no correlation between arrhythmia and risk of death or transplantation (p=0.14). Of the 15 patients who weaned from ventricular assist device, post-ventricular assist device arrhythmias occurred in nine (60%), with five (33%) having their first arrhythmia after weaning. Patients with ventricular dysfunction after ventricular assist device were more likely to have arrhythmias (p<0.02). Conclusions: Arrhythmias, especially ventricular, are common in children requiring ventricular assist device. They frequently persist for those able to wean from ventricular assist device.

Background: Holt–Oram syndrome is characterised by CHD and limb anomalies. Mutations in TBX5 gene, encoding the T-box transcription factor, are responsible for the development of Holt–Oram syndrome, but such mutations are variably detected in 30–75% of patients. Methods: Clinically diagnosed eight Holt–Oram syndrome patients from six families were evaluated the clinical characteristics, focusing on the cardiac manifestations, in particular, and molecular aetiologies. In addition to the investigation of the mutation of TBX5, SALL4, NKX2.5, and GATA4 genes, which are known to regulate cardiac development by physically and functionally interacting with TBX5, were also analyzed. Multiple ligation-dependent probe amplification analysis was performed to detect exonic deletion and duplication mutations in these genes. Results: All included patients showed cardiac septal defects and upper-limb anomalies. Of the eight patients, seven underwent cardiac surgery, and four suffered from conduction abnormalities such as severe sinus bradycardia and complete atrioventricular block. Although our patients showed typical clinical findings of Holt–Oram syndrome, only three distinct TBX5 mutations were detected in three families: one nonsense, one splicing, and one missense mutation. No new mutations were identified by testing SALL4, NKX2.5, and GATA4 genes. Conclusions: All Holt–Oram syndrome patients in this study showed cardiac septal anomalies. Half of them showed TBX5 gene mutations. To understand the genetic causes for inherited CHD such as Holt–Oram syndrome is helpful to take care of the patients and their families. Further efforts with large-scale genomic research are required to identify genes responsible for cardiac manifestations or genotype–phenotype relation in Holt–Oram syndrome.

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.

Kawasaki disease is an acute, febrile syndrome in infancy, characterised by vasculitis of medium-sized arteries, and affects predominantly young children. Family-based studies on Kawasaki disease supports the contribution of genetic factors in disorder manifestation. In a recent genome-wide association study, the polymorphism rs1801274 of FCGR2A [Fc fragment of immunoglobulin G, low-affinity IIa, receptor] gene has been implicated in disease pathogenesis. The aim of the present study was to explore the association of this variant, for the first time, in a group of Kawasaki-diseased patients of Greek origin. A total of 47 Kawasaki-diseased children and 50 control subjects were enrolled in the study. Polymerase chain reaction–restriction fragment length polymorphism assay was performed in rs1801274 genotyping. No association was observed between this polymorphism genotypes’ or alleles’ distribution between Kawasaki-diseased patients and controls. Furthermore, no association was revealed between this polymorphism and cardiovascular complications in Kawasaki-diseased patients. In the literature, the reported data over this polymorphism association with Kawasaki disease in Caucasian patients are contradictory. In addition, the disease shows low prevalence in the Caucasian populations. Therefore, the independent genetic association studies on rs1801274 with Kawasaki disease in various Caucasian groups increase the amount of genetic data, which could be used in a future meta-analysis, increasing the statistical power of the resultant conclusions.

Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.

Over the past decade, new echocardiographic techniques such as three-dimensional echocardiography and the imaging of myocardial deformation (strain) have been developed, and are increasingly used in clinical practice. In this article, we describe the rationale and methodology, review available guidelines for practice, and discuss the advantages and limitations of each of these modalities. When available, we have also summarised the scientific evidence for the clinical application of these techniques to detect heart failure in children.

Background: Children undergoing open heart surgery are at risk of neurological injury. A cohort of 35 patients, who had undergone cardiac surgery during infancy, had a significant reduction in Bayley Scale of Infant Development scores at a 12-month assessment. This cohort has now reached an appropriate age to reassess developmental progress. Methods: Detailed psychometric testing was conducted on 20 children from the original cohort using the Weschler Preschool and Primary Scale of Intelligence, the Wide Range Assessment of Memory and Learning, and the Wechsler Individual Achievement Test. Parents completed the Connor’s Rating Scale, the Behaviour Rating Scale of Executive Functioning, and the Child Behaviour Checklist. Results: The mean age of the cohort at assessment was 6.6 (standard deviation 0.4) years. Mean scores on all tests of intelligence, memory, academic achievement, and executive function fell within the average range. Of the children, 20–35% were found to have significant difficulties across these areas. Mean scores in the areas of social, emotional, behavioural, and psychological functioning also fell within the average range. Of the children studied, 35% had clinically significant problems in these areas. There was only a weak association between the 12-month scores and the Full-Scale Intelligence Quotient at 6 years. Conclusion: Detailed psychometric testing of these children suggests that they generally function in the average range; however, a significant proportion falls below age expectations in all the areas assessed. This highlights the importance of long-term follow-up with routine developmental screening to allow identification of a subgroup that may benefit from early educational and behavioural intervention.

Objective: To assess myocardial function in preterm infants with different degrees of ductal patency in the first week of life using tissue Doppler imaging. Study design: Infants <30 weeks of gestation underwent echocardiography on day 3. A total of 72 infants were recruited into the study and categorised into three groups (i) haemodyamically significant ductus arteriosus, (ii) patent ductus arteriosus and (iii) no patent ductus arteriosus. Those with haemodynamically significant ductus arteriosus were treated with indometacin and echocardiography was repeated after 48–72 hours following treatment. Peak systolic and diastolic myocardial velocities were obtained using tissue Doppler imaging, and myocardial performance index was calculated. Results: Initial myocardial velocities were significantly lower and myocardial performance index significantly higher in the haemodynamically significant ductus arteriosus group compared with other groups. For the haemodynamically significant ductus arteriosus group, post-treatment myocardial velocities were higher and myocardial performance index lower than pre-treatment. Conclusion: Preterm infants with haemodynamically significant ductus arteriosus had lower myocardial velocities and higher myocardial performance index, suggesting relative systolic and diastolic myocardial dysfunction. Babies whose patent ductus arteriosus remained open despite indometacin had lower pre-treatment myocardial velocities and higher myocardial performance index than those babies whose patent ductus arteriosus closed, suggesting worse myocardial function in this group. Measurement of myocardial function using tissue Doppler imaging in preterm infants is feasible and may prove to be helpful in the management of babies with patent ductus arteriosus.

Introduction: Dilated cardiomyopathy is usually idiopathic and may arise secondary to infections or metabolic or genetic causes. Another rare cause is hypocalcaemia. Owing to the fact that calcium plays an essential role in excitation and contraction of myocardial muscle, myocardial contractility may decline in patients with hypocalcaemia. Materials and Methods: Patients with symptoms of congestive heart failure and rickets-related hypocalcaemia were assessed clinically and by echocardiography in a paediatric cardiology clinic. Echocardiography was performed for all patients. Rickets was diagnosed according to the clinical, laboratory, and radiologic findings. Maternal lifestyle and living conditions were investigated, and the maternal 25-OH vitamin D3 blood level was measured. Results: We evaluated eight patients who developed heart failure as a result of severe hypocalcaemia associated with rickets between August, 1999 and June, 2012. The age distribution of the patients was 3–12 months. Laboratory results were consistent with advanced-stage rickets. Severe hypocalcaemia was detected in all patients. The maternal 25-OH vitamin D3 levels were low. Echocardiography revealed increased pre-treatment left ventricle end-systolic and end-diastolic diameters for age and reduced ejection fraction and fractional shortening. After clinical improvement, the patients were discharged. Conclusions: Severe hypocalcaemia associated with rickets must always be kept in mind among the causes of dilated cardiomyopathy and impaired cardiac function in infants. If diagnosed and treated in time, dilated cardiomyopathy and severe heart failure related to rickets respond well.

Background: Foetuses with simple tetralogy of Fallot almost universally have a patent ductus arteriosus. Two recently identified cases had an absent patent ductus arteriosus, requiring emergent intervention at birth. The objective of this study was to determine whether foetuses diagnosed with tetralogy of Fallot and no patent ductus arteriosus have poorer outcomes compared with those with tetralogy of Fallot+patent ductus arteriosus. Methods: All foetal cases of tetralogy of Fallot between January, 2000 and 2012 were retrospectively identified from The Hospital for Sick Children (Toronto, Canada) database. Cases – tetralogy of Fallot+no patent ductus arteriosus confirmed on postnatal echo – and controls – tetralogy of Fallot+patent ductus arteriosus, matched for gestational age – were identified from prenatal records, and both clinical and echocardiographic data were reviewed. Optimal outcome was defined as valve-sparing repair with no residual lesions. Student’s t-tests and Fisher’s exact χ2 were used to compare groups. Results: n=115 foetuses were diagnosed with tetralogy of Fallot: 11 (9%) had no patent ductus arteriosus, and were matched to 22 controls – mean gestational age at diagnosis 23.2±4.2 weeks, 23.4±6.6 weeks, respectively. Cases had a higher proportion of right aortic arches (64% versus 14%, p<0.001). Foetal and postnatal echocardiographic data did not reveal significant differences in branch pulmonary artery sizes, pulmonary valve sizes, or ventricular function. No differences were identified for cyanosis at birth (2/10 versus 7/20, p=0.67), or catheter intervention (5/10 versus 4/22, p=0.12). Optimal outcome rates were similar between cases and controls (4/11 (36%) versus 5/21 (24%), p=0.68). Conclusions: The patent ductus arteriosus does not appear to have an impact on clinical outcome in foetuses with tetralogy of Fallot.

Introduction: We aimed to evaluate changes in the cerebral blood supply in children during vasovagal syncope and to clarify the diagnostic value of transcranial Doppler for vasovagal syncope. Materials and methods: Patients were divided into three groups. Group 1 consisted of 31 patients who were symptomatic and whose head-up tilt test was positive. Group 2 comprised 21 patients who were symptomatic but whose tilt test was negative. Group 3 included 22 healthy children. For the diagnosis of vasovagal syncope, the tilt test was applied. For the subjects of the patient and control groups, the tilt test was repeated. The flow rates of bilateral middle cerebral arteries were continuously and simultaneously recorded with temporal window transcranial Doppler. Results: There were no statistically significant differences between the three groups with respect to age and gender distribution (p>0.05). When the bed was at an upright position, the maximum blood flow rate of the right middle cerebral artery was lower in Group 1 than in Group 2, although the decrease was more significant in comparison to the healthy control group (p<0.05). The minimum blood flow rate of the right middle cerebral artery was lower in Group 1 than the Group 2, although the decrease was more significant in comparison with the healthy control group (p<0.05). The maximum blood flow rate of the left middle cerebral artery was significantly lower in Group 1 than in the control group (p<0.05). Conclusion: Minimum and maximum blood flow rates are significantly decreased in patients tilt test (+) patients with vasovagal syncope during orthostatic stress.

In the 1970s, diagnosing anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) was often uncertain using imaging alone; however, with the advances in high-frequency transducers, advanced image processing, and other ultrasound modalities such as Doppler colour flow imaging, tissue Doppler imaging, and speckle tracking to asses regional wall motion abnormalities, modern echocardiography now permits accurate diagnosis of ALCAPA with greater certainty. Although many consider ultrasound to be the only imaging test necessary if there is a question as to the diagnosis, other imaging modalities such as MRI, CT, and cardiac catheterisation with angiography remain valuable complementary tests, especially in older patients.

This study aimed at examining three tilt angle-based positive responses and the time to positive response in a head-up tilt test for children with orthostatic intolerance, and the psychological fear experienced at the three angles during head-up tilt test. A total of 174 children, including 76 boys and 98 girls, aged from 4 to 18 years old (mean 11.3±2.8 years old), with unexplained syncope, were randomly divided into three groups, to undergo head-up tilt test at the angles of 60°, 70° and 80°, respectively. The diagnostic rates and times were analysed, and Wong–Baker face pain rating scale was used to access the children’s psychological fear. There were no significant differences in diagnostic rates of postural orthostatic tachycardia syndrome and vasovagal syncope at different tilt angles during the head-up tilt test (p>0.05). There was a significant difference, however, in the psychological fear at different tilt angles utilising the Kruskal–Wallis test (χ2=36.398, p<0.01). It was mildest at tilt angle 60° utilising the Kolmogorov–Smirnov test (p<0.01). A positive rank correlation was found between the psychological fear and the degree of tilt angle (rs=0.445, p<0.01). Positive response appearance time was 15.1±14.0 minutes at 60° for vasovagal syncope children. There was no significant difference in the time to positive response, at different tilt angles during the head-up tilt test for vasovagal syncope or for postural orthostatic tachycardia syndrome. Hence, it is suggested that a tilt angle of 60° and head-up tilt test time of 45 minutes should be suitable for children with vasovagal syncope.

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.