Sport activities for children and adolescents: the Position of the European Academy of Paediatrics and the European Confederation of Primary Care Paediatricians 2023-Part 1. Pre-participation physical evaluation in young athletes.

The European Academy of Paediatrics (EAP) and the European Confederation of Primary Care Paediatricians (ECPCP) emphasize the importance of promoting healthy lifestyles within the pediatric population. Many health professionals have questions concerning adequate levels of physical activity for both the healthy pediatric population and for those who may have specific complications. Unfortunately, the academic literature that provides recommendations for participation in sport activities within the pediatric population that have been published during the last decade in Europe is limited and is mainly dedicated to specific illnesses or advanced athletes and not toward the general population. The aim of part 1 of the EAP and ECPCP position statement is to assist healthcare professionals in implementing the best management strategies for a pre-participation evaluation (PPE) for participation in sports for individual children and adolescents. In the absence of a uniform protocol, it is necessary to respect physician autonomy for choosing and implementing the most appropriate and familiar PPE screening strategy and to discuss the decisions made with young athletes and their families. This first part of the Position Statement concerning Sport Activities for Children and Adolescents is dedicated to healthy young athletes.

Predictors of Long-Term Outcome in Children with Hypertrophic Cardiomyopathy.

To date limited data are available to predict the progression to end-stage heart failure (HF) with subsequent death (non-SCD), need for heart transplantation, or sudden cardiac death (SCD) in children with hypertrophic cardiomyopathy (HCM). We aimed to determine predictors of long-term outcome in children with HCM. A total of 112 children (median 14.1, IQR 7.8-16.6 years) were followed up for the median of 6.5 years for the development of morbidity and mortality, including arrhythmic and HF-related secondary end points. HF end point included HF-related death or heart transplant, and arrhythmic end point included resuscitated cardiac arrest, appropriate ICD discharge, or SCD. Overall, 23 (21 %) patients reached the pre-defined composite primary end point. At 10-year follow-up, the event-free survival rate was 76 %. Thirteen patients (12 %) reached the secondary arrhythmic end point, and 10 patients (9 %) reached the secondary HF end point. In multivariate model, prior cardiac arrest (r = 0.658), QTc dispersion (r = 0.262), and NSVT (r = 0.217) were independent predictors of the arrhythmic secondary end point, while HF (r = 0.440), LV posterior wall thickness (r = 0.258), LA size (r = 0.389), and decreased early transmitral flow velocity (r = 0.202) were all independent predictors of the secondary HF end point. There are differences in the risk factors for SCD and for HF-related death in childhood HCM. Only prior cardiac arrest, QTc dispersion, and NSVT predicted arrhythmic outcome in patients aged <18 years. LA size, LV posterior wall thickness, and decreased early transmitral flow velocity were strong independent predictors of HF-related events.

Prognosis in children with pulmonary arterial hypertension: 10-year single-centre experience.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare progressive disease of the pulmonary arterioles with an unfavourable prognosis. AIM: To evaluate survival and prognostic factors in patients with PAH diagnosed and treated at a single centre in the years 2004­2013. METHODS: The study included 55 children (33 girls; 66%, 22 boys; 33%), with an average age 6.2 ± 6.0 years, with idiopathic PAH ­ n = 23 (42%), PAH associated with systemic-to-pulmonary shunts ­ n = 17 (31%), and PAH after corrective cardiac surgery ­ n = 15 (27%). Forty-seven of them (87%) were treated with advanced therapy. RESULTS: During the follow-up with an average time of 5.6 ± 4.7 years 15 (27.3%) children died. The one-, three-, five-, and ten-year survival was, respectively, 83.1%, 77.1%, 70.7%, and 65.2%. The analysis of the survival curves revealed a better prognosis in patients with baseline N-terminal pro-B-type natriuretic peptide (NT-proBNP) level < 605 pg/mL (p = 0.024) and a higher probability of survival of three and five years in children at baseline I/II World Health Organisation functional class (WHO-FC). The higher risk of death was associated with a higher pressure in the right atrium (HR 1.23, p < 0.01) and higher pulmonary resistance (HR 1.1, p < 0.01), whereas no history of syncope had a better prognosis (HR 0.31, p = 0.03). CONCLUSIONS: Survival in the study group was comparable to the currently published register data. Mortality risk factors were connected with the severity of the disease at diagnosis.

Idiopathic ventricular arrhythmia in children and adolescents: early effectiveness of radiofrequency current ablation.

BACKGROUND AND AIM: The aim of the study was to evaluate early effectiveness of radiofrequency (RF) current ablation for idiopathic ventricular arrhythmia (iVA) in children and to identify factors affecting treatment results. METHODS: Among over 600 children, 30 ablation procedures were performed for iVA. Patient age ranged from 2.0 to 17.9 years (mean 14.7 ± 3.1). We analysed arrhythmia recurrences at 24 h and the effect of patient age, arrhythmia location, type of anaesthesia, and the presence of spontaneous arrhythmia during the procedure on the treatment results. RESULTS: Sixteen (53%) children had right ventricular (RV) arrhythmia, including RV outflow tract arrhythmia in 9 of them (56%). In 14 (47%) children, arrhythmia was located in the left ventricle (LV), including LV outflow tract in 2 children, and the posterior fascicle in 4 children. The procedure was effective in 13 (81%) children in the RV arrhythmia group and in 11 (78%) children in the LV arrhythmia group, including all children with fascicular tachycardia. The only variable that affected the treatment results was the presence of spontaneous arrhythmia during the procedure (p = 0.012). No procedural complications were noted. CONCLUSIONS: RF current ablation of iVA is a safe procedure with high early effectiveness. The only variable that affected the treatment results was the presence of spontaneous arrhythmia during the procedure.

Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report.

UNLABELLED: Encephalocraniocutaneous lipomatosis (ECCL, Haberland syndrome, Fishman syndrome) is a very rare congenital disorder, involving skin, eye, bone and central nervous system malformations. In this paper we present a case of a 2-month-old boy with encephalocraniocutaneous lipomatosis diagnosed on the basis of characteristic clinical manifestations and neuroimaging findings. Neurologically, the child presented only with mild physical and mental retardation. 24-h Holter monitoring revealed asymptomatic multifocal atrial tachycardia. Initial therapy with digoxin and metoprolol was not effective. Introduction of propafenone resulted in supression of supraventricular arrhythmia. During the 3- years follow-up, sinus rhythm persisted, but neurological status deteriorated. CONCLUSION: Supraventricular arrhythmia may be associated with Haberland syndrome. It seems that propafenone is most effective in this condition.

The usefulness of scintigraphy with (99m)Tc-anti-granulocyte antibody for diagnosis and follow-up in children with myocarditis.

BACKGROUND AND AIM: The aim of this study was to investigate whether scintigraphy with (99m)Tc-Anti-Granulocyte antibody is useful for diagnosis and follow-up in children with myocarditis, and to determine its correlation with endomyocardial biopsy (EMB) and clinical features. METHODS: A total of 11 children, mean age 13 years and presenting with symptoms of myocarditis, were evaluated at the time of initial presentation and 6, 12 and 24 months after the first study. In all patients, myocardial scintigraphy was performed with estimation of antigranulocyte antibody uptake. EMB was done in 10 patients at the time of initial presentation and in 8 patients after 6 months. RESULTS: In 10 (91%) patients, positive antigranulocyte uptake was observed, with EMB confirming myocarditis in 8 children. In scintigraphy after 6 months, positive uptake was found in 9 (82%) patients, with EMB performed in 8 patients showing persistent myocarditis; after 12 months, scintigraphy indicated positive uptake in 7 (64%), and after 24 months only in 4 (36%) patients. CONCLUSIONS: 1. In 80% of patients with positive scintigraphy results, biopsy-proven myocarditis was observed. 2. The positive antigranulocyte uptake correlated with clinical features at diagnosis and in follow-up. 3. The control scintigraphy performed in follow-up after 6, 12, and 24 months allowed the evaluation of resolved or persistent myocarditis. 4. Myocardial scintigraphy results indicate that the inflammatory process in the myocardium decreases significantly after 12 months from the onset of the disease. 5. Scintigraphy with (99m)Tc-Anti-Granulocyte antibody seems to be a useful diagnostic method in myocarditis, but further studies are needed to establish its sensitivity and specificity.

Early screening for critical congenital heart defects in asymptomatic newborns in Mazovia province: experience of the POLKARD pulse oximetry programme 2006-2008 in Poland.

BACKGROUND: Early diagnosis of critical congenital heart defects (CCHD) may be missed both during prenatal echocardiography and the short stay in the neonatal nursery, leading to circulatory collapse or death of the newborn before readmission to hospital. AIM: To assess the usefulness of pulse oximetry as a screening test in early diagnosis of CCHD in newborns. METHODS: A prospective screening pulse oximetry test was conducted in 51 neonatal units in the Mazovia province of Poland as part of the POLKARD 2006-2008 programme between 16 January, 2007 and 31 January, 2008. Newborns with no circulatory symptoms or coexisting diseases, and no prenatal diagnosis, were enrolled. The test was performed between the 2(nd) and 24(th) hours of life in stable newborns. A double arterial oxygen saturation (SpO(2)) reading < 95% on a lower extremity led to cardiovascular evaluation and echocardiography. RESULTS: From a population of 52,993 newborns (14.2% of births in Poland), a group of 51,698 asymptomatic infants was isolated. CCHD was diagnosed solely by pulse oximetry in 15 newborns, which constituted 18.3% of all CCHD; 14 (0.026%) false positives were obtained and there were four false negative results. The sensitivity of the test was 78.9% and specificity 99.9%. The positive predictive value was 51.7% and negative 99.9%. CONCLUSIONS: Pulse oximetry fulfilling the screening test criteria, performed on a large population of newborns in Poland, proved useful in supporting prenatal diagnostics and postnatal physical examination in the early detection of initially asymptomatic CCHD. Good sensitivity and specificity results of the pulse oximetry test have allowed it to be recommended for use in neonatal units nationwide.

[Symptoms, diagnosis and characteristic abnormalities in the coronary arteries in Kawasaki disease in children]. / Symptomatologia a ustalenie rozpoznania i wystepowanie zmian w tetnicach wiencowych w chorobie Kawasaki u dzieci.

INTRODUCTION: Kawasaki disease (KD) is a vasculitis of unknown etiology, the diagnosis is based upon symptoms, characteristic abnormalities in the coronary arteries are the most important complications. AIM: Establishment of a data base of the patients with KD, assignation of symptoms, and frequency of abnormalities in the coronary arteries according to the clinical manifestations and time of the diagnosis. MATERIALS AND METHODS: The patients'data from selected centres of paediatric cardiology were put into a questionnaire form in the Internet. The data of 120 children were placed into data base in the year 2007, of which we analyzed 112 cases. RESULTS: The most frequent symptoms were fever and abnormalities of oral mucosa. Complete KD was diagnosed in 73%, incomplete in 27% (median of age 28 and 19 months respectively). The disease was diagnosed before its 10th day in 60% with similar frequency of both clinical manifestations, abnormalities in the coronary arteries were observed in 59% with complete and in 44% with incomplete KD clinical sings. The disease lasting longer than 70 days was diagnosed in 40% with similar frequency in both groups of clinical manifestations, abnormalities in the coronary arteries were in 79% with complete and in 75% with incomplete KD. In all cases, abnormalities in coronary arteries were in 67% with complete and in 57% with incomplete KD. CONCLUSIONS: The most frequent symptoms of Kawasaki disease are fever and abnormalities in the oral mucosa. Incomplete KD is more frequent in younger children. Despite complete KD in 40% of cases diagnosis was delayed. Abnormalities in the coronary arteries were more frequent in patients in whom KD was diagnosed only after the 10th day of the illness, but with the same frequency in both clinical manifestations. Diagnosis of incomplete KD before the 10th day of the illness was associated with lower risk of incidence of abnormalities in the coronary arteries.

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.

We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia. Genetic analysis revealed rare heterozygous point mutation in lamin A/C gene, g.428C>T. Cardiological evaluation showed atrial fibrillation, but we did not find signs of coronary heart disease, which is life-threatening cardiovascular complication in progeria. Electron microscopy of the muscle revealed abnormalities in nuclear architecture, i.e. blebbing, thick lamina and peripheral distribution of heterochromatin. As some diagnostic criteria characteristic for classic progeria are not fulfilled, this case could be regarded as atypical progeria associated with myopathy and atrial fibrillation. To our knowledge, this is the second case of such association described in the literature.

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.

The association of conotruncal heart defects with 22q11.2 chromosomal microdeletions is well established. However, it is not clear whether particular types of conotruncal malformations or additional cardiovascular anomalies are associated with microdeletions. In addition, cardiac surgery outcome in children with conotruncal defects and del22q11.2 is not well described. We prospectively enrolled 214 children with conotruncal defects: 126 with tetralogy of Fallot (TOF), 18 with pulmonary atresia-ventricular septal defect (PA-VSD), 15 with truncus arteriosus communis (TAC) type I, one with interrupted aortic arch (IAA) type B, and 54 with the transposition of great arteries, who were consecutively hospitalized at the Pediatric Cardiology Department between 2003 and 2005. 22q11.2 microdeletion was identified by fluorescence in situ hybridization. The postoperative course following cardiac surgery was compared in patients with TOF and its more severe form, PA-VSD, with/without del22q11.2 (groups A and B) and TAC with/without del22q11.2 (groups C and D). In 15 of 214 patients, 22q11.2 microdeletion was diagnosed (in 11 with TOF/PA-VSD, in three with TAC, in one with IAA type B). In patients with TOF/PA-VSD and microdeletion anatomic features that were significantly associated with 22q11.2, deletion included right aortic arch (p = 0.018), aberrant right subclavian artery (p < 0.001), and major aortopulmonary collateral arteries (p = 0.016). A complicated postoperative course was more frequent and mortality was higher in patients with conotruncal defects and with/without microdeletion. We conclude that additional cardiovascular anomalies are significantly more frequent in children with 22q11.2 microdeletion and TOF/PA-VSD. Children with conotruncal heart defects and 22q11.2 microdeletion more frequently experienced complicated postoperative course after cardiac surgery.

Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome.

Familial hypertrophic cardiomyopathy (HCM) displays autosomal dominant inheritance with incomplete penetration of defective genes. Data concerning the familial occurrence of ventricular preexcitation, i.e. Wolff-Parkinson-White (WPW) syndrome, also indicate autosomal dominant inheritance. In the literature, only a gene mutation on chromosome 7q3 has been described in familial HCM coexisting with WPW syndrome to date. The present paper describes the case of a 7-year-old boy with HCM and coexisting WPW syndrome. On his chromosome 14, molecular diagnostics revealed a C 9123 mutation (arginine changed into cysteine in position 453) in exon 14 in a copy of the gene for beta-myosin heavy chain (MYH7). It is the first known case of mutation of the MYH7 gene in a child with both HCM and WPW. Since no linkage between MYH7 mutation and HCM with WPW syndrome has been reported to date, we cannot conclude whether the observed mutation is a common cause for both diseases, or this patient presents an incidental co-occurrence of HCM (caused by MYH7 mutation) and WPW syndrome.

Reversal of tacrolimus-related hypertrophic cardiomyopathy after conversion to rapamycin in a pediatric liver transplant recipient.

Tacrolimus (Tac)-related hypertrophic cardiomyopathy (HCM) has been reported to be an unusual but serious complication affecting pediatric patients after solid organ transplantation. Herein, we present a case of young liver transplant recipient with Tac-induced HCM, treated by discontinuation of Tac followed by conversion to rapamycin (Rap). Our case report points out the potential but rather low risk of HCM during Tac immunosuppression in pediatric liver transplants and demonstrates that replacement of calcineurin inhibitors with mammalian target of Rap (mTOR) inhibitors may be an efficacious therapeutic tool to effect regression of established cardiac hypertrophy.

Risk factors for cardiac arrhythmias in children with congenital heart disease after surgical intervention in the early postoperative period.

OBJECTIVE: Early postoperative arrhythmias are a recognized complication of pediatric cardiac surgery. METHODS: Diagnosis and treatment of early postoperative arrhythmias were prospectively analyzed in 402 consecutive patients aged 1 day to 18 years (mean 29.5 months) who underwent operation between January and December 2005 at our institute. All children were admitted to the intensive care unit, and continuous electrocardiogram monitoring was performed. Risk factors, such as age, weight, Aristotle Basic Score, cardiopulmonary bypass time, aortic crossclamp time, and use of deep hypothermia and circulatory arrest, were compared. Statistical analysis using the Student t test, Mann-Whitney U test, or Fisher exact test was performed. Multivariate stepwise logistic regression was used to assess the risk factors of postoperative arrhythmias. RESULTS: Arrhythmias occurred in 57 of 402 patients (14.2%). The most common types of arrhythmia were junctional ectopic tachycardia (21), supraventricular tachycardia (15), and arteriovenous block (6). Risk factors for arrhythmias, such as lower age (P = .0041*), lower body weight (P = .000001*), higher Aristotle Basic Score (P = .000001*), longer cardiopulmonary bypass time (P = .000001*), aortic crossclamp time (P = .000001*), and use of deep hypothermia and circulatory arrest (P = .0188*), were identified in a univariate analysis. In the multivariate stepwise logistic regression, only higher Aristotle Basic Score was statistically significant (P = .000003*) compared with weight (P = .62) and age (P = .40); in the cardiopulmonary bypass group, only longer aortic crossclamp time was statistically significant (P = .007*). CONCLUSION: Lower age, lower body weight, higher Aristotle Basic Score, longer cardiopulmonary bypass time, aortic crossclamp time, and use of deep hypothermia and circulatory arrest are the risk factors for postoperative arrhythmias. Junctional ectopic tachycardia and supraventricular tachycardia were the most common postoperative arrhythmias.

[Psychomotor development rate of children with infantile neuronal ceroid lipofuscinosis]. / Ocena dynamiki rozwoju psychoruchowego dzieci z wczesnodziecieca neuronalna ceroidolipofuscynoza.

BACKGROUND: Late infantile neuronal ceroid lipofuscinosis (LINCL) is the most common childhood progressive encephalopathy. Severe psychodegradation with diminish of cognitive functions together with ataxia, myoclonus, resistant epilepsy, paresis and blindness in aged 3-6 yrs are observed. THE AIM OF STUDY: Cognition of psychomotor development in children with LINCL. MATERIAL AND METHODS: In group of 65 children with LINCL diagnosed by ultrastructural conjunctive examinations and/or low activity of TPP1 enzyme in leukocytes, the psychological assessment during 3 years of disease was performed. 25 children had done psychological test with use Psyche Cattell Scale for Small Children twice in 1-3 years intervals. In next 40 children clinical, neurological observations during some years was made. RESULTS: In 25 children Psyche Cattell tests revealed severe mental retardation (IQ 20-35) in 16% and profound mental retardation in 84%. In the first year of disease 56% of children was degraded to the profound mental retardation (44% in moderate and 12% in severe mental retardation). In all 65 affected children already in the first neurological visit the delay and regress in global of mental development was observed (any of children hadn't have IQ rates on average level). Analysis of psychodegradation rate revealed in 60% of children after 1-3 years from onset of disease very rapid mental retardation and decreased IQ above 2 SD and in 24% above 3SD. CONCLUSIONS: Common progressive encephalopathy LINCL caused very rapid severe mental degradation, already at the first stage of the development of disease and that is very important diagnostic sign.

[Kawasaki disease in children--9 years experience]. / Choroba Kawasaki u dzieci--9 letnie doswiadczenie jednego osrodka.

PURPOSE: The aim of the study was assessment of the course and treatment of Kawasaki disease on the basis of own experience. MATERIAL AND METHODS: Between November 1995 and December 2004 Kawasaki disease (KD) was diagnosed in 30 patients, (20 boys, 10 girls). The median age in acute stage was 20 months (range 1-96 months). Patients were divided into 4 groups (gr) according to changes in coronary arteries (CA). Group 1 (N=13) without CA aneurysms (CAA), group II (N=5) with small (<5mm) CAA. Group III (N=5) with medium (5-8mm) CAA, group IV (N=7) with giant (>8mm) CAA. Echocardiographic examination was performed in all patients. In echocardiographic examination the following were observed: CAA and valvar insufficiency in 15 patients, left ventricle enlargement in 3 patients, pericardial effusion in 6 patients. The treatment was intravenous immunoglobulin and aspirin in all patients, steroid treatment in 2 patients methylprednisolone, in 2 patients prednisone, in l patient hydrocortisone. The anti-inflammatory treatment was started after 10 days of illness in 66.7% of patients. Thrombi in CAA were treated in 6 patients, the treatment was: in all tissue - type plasminogen activator iv and intracoronary in 2 patients; heparin in all; enoxaparine in 3 patients; abciximab in 2 patients; acenocumarol and aspirin in all. Coronary angiographies were performed in 2 patients in acute stage of disease for thrombolytic therapy and in 4 patients during follow-up. Myocardial perfusion was assessed in SPECT (Single Photon Emission Computed Tomography) in 6 patients. Two children with giant CAA died during the first 8 months of acute stage (6.7%), 2 patients we lost from follow-up. 26 patients are in follow-up. RESULTS: during anti-inflammatory treatment (immunoglobulin, aspirin, steroid treatment) loss of fever, normalization of inflammatory markers, and no side effect, were observed except for 1 patient treated with methylprednosolone with thrombi in CAA during treatment and no side effects during treatment. During the follow-up period CAA regressed in 5 patients (35.7%), CAA became smaller in 7 patients (50%), CAA were the same in 2 patients (14.3%). Changes in echocardiographic examination: valvar insufficiency, left ventricle enlargement, pericardial effusion, disappeared during follow-up. Perfusion defects were observed in 4 patients in SPECT. In coronary angiography changes were observed in coronary arteries in 4 patients. CONCLUSIONS: 1. Kawasaki disease was diagnosed in 66.7% children after 10 days of illness. 2. Coronary artery aneurysms were found in 56.6% treated children. 3. Regression of CAA was observed in 37.5% patients mainly with small CAA. They became smaller in 50% cases mainly with medium and giant CAA. 4. Mortality rate was 6.7% and concerned children with giant CAA; they died during the first 8 months of illness. 5. Thrombolytic treatment of thrombi in CAA (rt-PA, heparin, enoxaparine, abciximab, acenocumarol, aspirin) was safe and successful. 6. In all patients with medium and giant CAA in the acute stage, changes were observed in echocardiographic, angiographic examination and myocardial perfusion during follow-up.