Recommendations for physical activity, recreation sport, and exercise training in paediatric patients with congenital heart disease: a report from the Exercise, Basic & Translational Research Section of the European Association of Cardiovascular Prevention and Rehabilitation, the European Congenital Heart and Lung Exercise Group, and the Association for European Paediatric Cardiology.

All children have a natural need to move, play, and perform activities. Physical activity is necessary for optimal physical, emotional, and psychosocial development for healthy children as well as children with congenital heart disease (CHD). In this paper we provide recommendations for physical activity, recreational sport, and exercise training in children and adolescents with CHD. In general, children with CHD should be advised to comply with public health recommendations of daily participation in 60 min or more of moderate-to-vigorous physical activity that is developmentally appropriate and enjoyable and involves a variety of activities. While all patients with CHD can participate and benefit from physical activity and exercise, those with specific lesions or complications may require counselling regarding precautions and recommendations.

Long-term behavior and quality of life after corrective cardiac surgery in infancy for tetralogy of Fallot or ventricular septal defect.

The objective of this study was to evaluate behavior and quality of life in children after corrective cardiac surgery in infancy. Twenty cyanotic (tetralogy of Fallot) and 20 acyanotic children (ventricular septal defect), operated at a mean age of 0.7 years with deep hypothermic circulatory arrest (DHCA) and low-flow cardiopulmonary bypass (CPB), were assessed at a mean age of 7.4 years by the Child Behavior Checklist (CBCL) and the German KINDL. Test results were related to perioperative and neurodevelopmental outcome. Compared to healthy children and not significantly different between the groups, internalizing and externalizing problems were elevated, school performance and total competence were reduced, and self- and parent-reported quality of life was not reduced. Parent-reported problems and reduced physical status were correlated with longer durations of DHCA and CPB. Internalizing and externalizing problems, reduced school competence, and reduced self-esteem were associated with reduced endurance capacity. Externalizing problems were related to reduced gross motor function. Poor school competence was related to reduced intelligence and academic achievement. Children with preoperative hypoxemia in infancy due to cyanotic cardiac defects are not at significantly higher risk for behavioral problems and reduced quality of life than those with acyanotic heart defects. The risk of long-term psychosocial maladjustment after corrective surgery in infancy is increased compared to that for normal children and related to the presence of neurodevelopmental dysfunction.

Results of exercise testing at a mean age of 10 years after neonatal arterial switch operation.

AIM: This prospective follow-up study investigated long-term exercise capacity at a mean age of 10 y after neonatal arterial switch operation for transposition of the great arteries in a large group of homogeneous unselected children. METHODS: 56 asymptomatic children, aged 7.9-14.3 y (10.5 +/- 1.6, mean +/- SD), were examined with respect to exercise tolerance, electrocardiographic (ECG) response and activity of biochemical markers for myocardial injury. The protocol included standard electrocardiography, M-mode and two-dimensional echocardiography at rest, a Bruce walking treadmill test to voluntary exhaustion, and determination of cardiac troponin I and T, creatine kinase and myoglobin from venous blood samples at rest and 4 h after exercise. Heart rate, blood-pressure response to exercise stress and endurance time were compared with published results of age-matched normal children. RESULTS: 54 patients (96.4%) had normal exercise capacity; a reduction in 2 patients was not due to cardiac disease. Heart rate and systolic blood pressure rose significantly between rest and peak exercise and did not differ from normal controls, whereas diastolic blood pressure was lower. ECG remained normal at rest and on exercise in 54 children (96.4%). Serum values of cardiac troponin I and T, creatine kinase and myoglobin were normal at rest and after exercise in all patients. CONCLUSION: The study demonstrates excellent long-term exercise capacity after neonatal arterial switch operation. Exercise testing is a useful and non-invasive screening method to detect patients with clinically relevant exercise-induced myocardial ischaemia and should be routinely performed in growing patients.

Long term behavioural outcome after neonatal arterial switch operation for transposition of the great arteries.

AIMS: To evaluate behavioural outcome and quality of life in children aged 8-14 years after neonatal arterial switch operation for transposition of the great arteries. METHODS: Sixty children operated as neonates with combined deep hypothermic circulatory arrest and low flow cardiopulmonary bypass were evaluated at age 7.9-14.3 years by the Child Behaviour Checklist (CBCL) and the Inventory for the Assessment of the Quality of Life in Children and Adolescents (IQCL). RESULTS: Parent reported behavioural outcome on all CBCL problem and competence scores was worse, whereas quality of life on self reported IQCL scores was not reduced compared to the normal population. On multivariate analysis, severe preoperative hypoxia was related to parent reported social problems; peri- and postoperative cardiocirculatory insufficiency was associated with internalizing, externalizing, attention, and total behavioural problems. Reduced expressive language was associated with total behavioural problems, and poor academic achievement was related to parent reported deficits in school performance. Impaired neurological status and reduced endurance capacity both predicted self reported stress by illness. CONCLUSIONS: The neonatal arterial switch operation with combined circulatory arrest and low flow bypass is associated with parent reported long term behavioural impairment, but not with self reported general reduction in quality of life. This discrepancy may be a result of different perception of illness. In our experience, increased risk of long term psychosocial maladjustment after neonatal corrective cardiac surgery is related to the presence of neurological impairment and reduced endurance capacity.

Time course of cranial ultrasound abnormalities after arterial switch operation in neonates.

BACKGROUND: The object of this study was to investigate the time course and fate of abnormal findings in cranial ultrasound after performing an arterial switch operation in neonates with transposition of the great arteries, and to analyze the relationship to cerebral cell damage. METHODS: Cranial ultrasound was performed prospectively in 35 neonates with transposition of the great arteries before the operation as well as 4 hours, 1, 2, and 3 days, and 1 and 2 weeks postoperatively. Blood levels of neuron-specific enolase, a marker of cerebral cell damage, were determined before, during, and 4 and 24 hours postoperatively. RESULTS: In 17 of 35 neonates (49%), early postoperative cranial ultrasound revealed abnormalities indistinguishable from intraventricular hemorrhage. In 11 neonates findings were transient and were normalized 2 weeks postoperatively, whereas in the remaining 6 neonates there was evidence of resolving hemorrhage. In all neonates there was a rise in neuron-specific enolase blood concentrations during and 4 hours after extracorporal circulation without correlation to sonographic findings. CONCLUSIONS: Enhanced echogenicity of the choroid plexus or dilatation of the cerebral ventricular system is a frequent early postoperative finding that may be caused by transient plexus edema rather than intraventricular hemorrhage and is not related to cerebral cell damage.

Neurodevelopmental outcome related to cerebral risk factors in children after neonatal arterial switch operation.

BACKGROUND: Neurodevelopmental outcome after neonatal arterial switch operation for complete transposition of the great arteries is an important topic needing prospective assessment. METHODS: A group of 33 unselected children (3.0 to 4.6 years) operated on as neonates with combined deep hypothermic circulatory arrest and low flow cardiopulmonary bypass and a control group of 32 age-matched healthy children (3.0 to 4.8 years) underwent evaluation of socioeconomic and clinical neurological status and a standardized test comprising all areas of child development. Results of patients were related to those of the control group, to population norms, and to preoperative, perioperative, and postoperative cerebral risk factors. RESULTS: Clinical neurological status was normal in 26 patients (78.8%) and reduced in 7 (21.2%). Complete developmental score and the subscores for motor function, visual perception, learning and memory, cognitive function, language, and socioemotional functions were not different compared to population norms. Compared to the patients, the children of the control group scored higher on tests of complete development, cognition, and language, but also on socioeconomic status. Complete developmental score and the scores for motor, cognitive, and language functions were weakly inversely related to the duration of circulatory arrest, but not to the duration of bypass. Cerebral risk factors such as serum levels of the neuron-specific enolase, perinatal acidosis, perinatal asphyxia, peri- and postoperative cardiocirculatory insufficiency, or clinical seizures were not correlated to the test results. CONCLUSIONS: Neonatal arterial switch operation with combined circulatory arrest and low flow bypass is associated with neurological impairment, but not with reduced development as assessed by formal testing of motor, cognitive, language, and behavioral functions. Perioperative serum level of the neuron-specific enolase is not a valid marker for later developmental impairment.

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system. There is a remarkable degree of clinical variability both within and between families with Marfan syndrome as well as in individuals with related disorders of connective tissue caused by FBN1 mutations and collectively termed type-1 fibrillinopathies. The so-called neonatal region in FBN1 exons 24-32 comprises one of the few generally accepted genotype-phenotype correlations described to date. In this work, we report 12 FBN1 mutations identified by temperature-gradient gel electrophoresis screening of exons 24-40 in 127 individuals with Marfan syndrome or related disorders. The data reported here, together with other published reports, document a significant clustering of mutations in exons 24-32. Although all reported mutations associated with neonatal Marfan syndrome and the majority of point mutations associated with atypically severe presentations have been found in exons 24-32, mutations associated with classic Marfan syndrome occur in this region as well. It is not possible to predict whether a given mutation in exons 24-32 will be associated with classic, atypically severe, or neonatal Marfan syndrome.

Cardiac myxoma in a 6-year-old child--constitutional symptoms mimicking rheumatic disease and the role of interleukin-6.

A 6-y-old girl with right atrial myxoma presented with remittent fever attacks, general arthralgia and laboratory investigations mimicking rheumatic or autoimmune disease. Interleukin-6 (IL-6) serum concentration was markedly elevated before and normal after tumour resection, whereas myxoma cells stained negatively for IL-6. IL-6 should be considered a myxoma marker: overproduction by myxoma cells and consecutive systemic passage are assumed to cause immunological features.

Cardiological and general health status in preschool- and school-age children after neonatal arterial switch operation.

OBJECTIVE: Cardiological and general health status 3-9 years after neonatal arterial switch operation for transposition of the great arteries should be evaluated by non-invasive methods. METHODS: A total of 77 unselected children with intact ventricular septum (75.3%) or ventricular septal defect (24.7%) without or with aortic isthmic stenosis (5.2%) were prospectively examined 3.2-9.4 years (5.4 +/- 1.6) after neonatal switch. Clinical pediatric and cardiological examination, standard and 24 h Holter electrocardiogram, M-mode, 2D-, Doppler and colour Doppler echocardiography were performed. Outcome data were compared to published normals. RESULTS: Reoperation rate was 2.6%, 96.1% were without limitation of physical activity and 98.7% without medication. Compared to normals, growth was adequate, weight and head circumference were slightly reduced. After median sternotomy, 23.4% had abnormal thoracic configuration (16.9% asymmetry, 6.5% funnel chest). ECG and Holter: 93.5% were in sinus, 6.5% in ectopic atrial or junctional rhythm. Incidence of complete right bundle branch block was 15.8% in patients with ventricular septal defect and 5.2% in those without. Ischemic ST-T changes during exercise due to coronary artery occlusion and evidence of old myocardial infarction were found in 1 patient (1.3%) each. Occasional atrial ectopy was found in 27.4%, ventricular ectopy in 15.3%: occasional in 12.5% and frequent (> 30/h) in 2.8% presenting bigemini, couplets and short runs of ventricular tachycardia at rest and during exercise. Echocardiography: Left ventricular function was normal in all. Endsystolic diameter of neoaortic valve annulus was beyond 90% confidence interval for controls in 79.2%, neoaortic root diameter in 100%. Mild aortic insufficiency was seen in 10.4%. No correlation was found between aortic insufficiency and aortic dilatation. Neoaortic stenosis was not seen, mild residual coarctation after end-to-end-anastomosis was found in 2.6%, native coarctation corrected later on in 1.3%. Supravalvular pulmonary stenosis was seen in 29.9% (19.5% trivial, 7.8% mild, 2.6% moderate), mild subvalvular pulmonary stenosis in 1.3%, pulmonary insufficiency in 2.6%. CONCLUSION: The study confirms good midterm results after neonatal arterial switch operation for transposition with or without ventricular septal defect. Long-term observation is necessary to assess rhythm, coronary artery and myocardial function as well as development of neo-aorta and pulmonary artery system.

Cognitive and motor development in preschool and school-aged children after neonatal arterial switch operation.

OBJECTIVE: The developmental status of children beyond 3 years of age after the neonatal arterial switch operation has not yet been systematically evaluated and is the topic of the present work. METHODS: Seventy-seven unselected children operated on as neonates with combined deep hypothermic circulatory arrest and low-flow cardiopulmonary bypass were examined at an age of 3.2 to 9.4 years (5.4 +/- 1.6 years, mean +/- standard deviation). Clinical neurologic status, standard scores of intelligence, acquired abilities and vocabulary, and standardized tests on gross motor and fine motor functions were carried out, and the results were related to preoperative, perioperative, and postoperative status and management. RESULTS: Neurologic impairment was more frequent (9.1%) than in the normal population. Intelligence was not different in these patients compared with normal children (p = 0.11), but motor function, vocabulary, and acquired abilities were poorer. Reduced intelligence was found in 9.1%, fine motor dysfunction in 22.1%, and gross motor dysfunction in 23.4% of the children. Intelligence was weakly but significantly inversely related to the duration of bypass (Spearman correlation coefficient -0.25, p = 0.03) and tended to be inversely related to the duration of circulatory arrest (-0.21, p = 0.07), but not to core cooling time on bypass or degree of hypothermia. Gross motor function, vocabulary, and acquired abilities were not significantly related to any of the perioperative parameters considered. No correlation was found between the test results and the variables perinatal asphyxia, perioperative and postoperative cardiocirculatory insufficiency, resuscitation events, and plexal or intraventricular cerebral hemorrhage. CONCLUSIONS: The neonatal arterial switch operation with combined circulatory arrest and low-flow bypass in our experience is associated with neurologic as well as fine and gross motor impairment but appears to be well tolerated concerning cognitive functions as based on formal intelligence testing.