Neutrophil Count as Atrioventricular Block (AVB) Predictor following Pediatric Heart Surgery.

Neutrophils play a significant role in immune and inflammatory reactions. The preoperative inflammatory activation may have a detrimental effect on postoperative outcomes. The aim of the study was to investigate the relation between preoperative hematological indices on postoperative complications' risk in pediatric cardiac congenital surgery. The retrospective single center analysis included 93 pediatric patients (48 (65%) males and 45 (35%) females), mean age of 7 (3−30) months referred for cardiac surgery in cardiopulmonary bypass due to functional single ventricle disease (26 procedures), shunts lesions (40 procedures) and cyanotic disease (27 procedures). Among simple hematological indices, the receiver-operating-characteristic curve showed that a neutrophil count below 2.59 K/uL was found as an optimal cut-off point for predicting postoperative atrioventricular block following pediatric cardiac surgery (AUC = 0.845, p < 0.0001) yielding a sensitivity of 100% and a specificity of 65.62%. Preoperative values of neutrophil count below 2.59 K/uL in whole blood analysis can be regarded as a predictive factor (AUC = 0.845, p < 0.0001) for postoperative atrioventricular block in pediatric cardiac surgery.

Successful transcatheter closure of unusual giant and symptomatic right ventricle to right atrium fistula.

We report on a patient with a significantly enlarged right heart caused by a rare right ventricle to right atrium fistula. Cardiac magnetic resonance revealed diagnosis and delineated detailed anatomy of the defect. The shunt was successfully closed with an implantation of Amplatzer Vascular Plug II. We discuss possible causes of this anomaly and its treatment.

A 10-year single-centre experience in percutaneous interventions for multi-stage treatment of hypoplastic left heart syndrome.

OBJECTIVES: The purpose of this paper is to report our 10 years of experience of interventional treatment of patients with hypoplastic left heart syndrome and to focus on the frequency, type, and results of percutaneous interventions during all the stages of palliation, considering the different techniques, devices, and complications. BACKGROUND: Constant progress in surgical treatment of congenital heart defects in the last decade has significantly improved the prognosis for children with hypoplastic left heart syndrome. However, morbidity and mortality remain relatively high. Modern interventional procedures complement or occasionally replace surgical treatment. METHODS: Between January, 2001 and December, 2010, 161 percutaneous interventions were performed in 88 patients with hypoplastic left heart syndrome. Patients were divided into four groups: (a) before the first surgical treatment including hybrid approach, (b) after first-stage Norwood operation, (c) after second-stage bidirectional Glenn operation, and (d) after third-stage Fontan operation. RESULTS: Percutaneous interventions resulted in statistically significant changes in pulmonary artery pressures, vessel diameters, and O2 saturation. Complications occurred in 4.3% of interventions and were related mainly to stent implantation in stenosed pulmonary arteries. CONCLUSIONS: Percutaneous interventions may result in haemodynamic stability and reduction in the number of operations. They may result in significant changes in pulmonary artery pressures, vessel diameters, O2 saturation, with a low rate of complications, which are mainly related to stent implantation in the pulmonary arteries.

Pacemaker remote monitoring challenges in pediatric population: Single center long term experience.

BACKGROUND: Remote monitoring (RM) of cardiac implantable electronic devices for adults offers improved treatment efficacy and, consequently, better patient clinical outcomes. There is scant data on the value and prognosis of RM in the pediatric population. AIMS: The goal of this study was to determine the efficacy of RM by analyzing the connectivity of bedside transmitters, adherence to planned automatic follow-ups, and occurrence of alert-based events. METHODS: We evaluated the pediatric population with implanted pacemakers for congenital AV block or after surgically corrected congenital heart diseases. RESULTS: A total of 69 patients were included in our study. The median (Q1-Q3) patient age was 6.0 (2.0-11.0) years. All patients received bedside transmitters and were enrolled in the RM system. Among them, 95.7% of patients had their first scheduled follow-up successfully sent. Patients were followed up remotely over a median time of 33.0 (13-45) months. Only 42% of patients were continuously monitored, and all scheduled transmissions were delivered on time. Further analysis revealed that 34.8% of patients missed transmissions between June and September (holiday season). Alert-based events were observed in 40.6% patients, mainly related to epicardial lead malfunction and arrhythmic events. Overall compliance was also compromised by socioeconomic factors. CONCLUSIONS: Our findings are in concordance with recently published results by PACES regarding a high level of compliance in patient enrollment to RM and time to initial transmission. However, a lower level of adherence was observed during the holiday season due to interrupted connectivity of bedside transmitters. Importantly, a relatively low occurrence of alert transmissions was observed, mainly related to epicardial lead malfunction and arrhythmic events.

Do children with asymptomatic ventricular preexcitation have similar quality of life as healthy children?

BACKGROUND: To our knowledge, no studies have assessed quality of life (QoL) in asymptomatic children with a preexcitation electrocardiogram pattern. AIM: To evaluate the QoL of children with asymptomatic Wolff-Parkinson-White (WPW) syndrome. METHODS: This study involved QoL assessment of 31 children with asymptomatic preexcitation and 82 healthy children using the WHOQOL-BREF and the Pediatric Arrhythmia Related Score (PARS), a specific questionnaire that we have developed, which is related to patients' feelings and observations concerning arrhythmia. RESULTS: There were no significant differences between the two groups in all the measured domains; however, there were significant differences regarding general satisfaction with their health condition (P = 0.01). There were no differences in general satisfaction with the QoL, but WPW children more often experienced palpitations than the control group (P <0.001) and were more likely to feel sad (P = 0.046) and nervous (P = 0.04) compared to healthy children. CONCLUSIONS: The children with WPW were more dissatisfied with their health compared to healthy children. Although both groups of children had similar levels of satisfaction with their QoL, some areas of physical and psychological parameters of QoL were worse in WPW children. The PARS questionnaire is a useful tool as a disease-specific QoL instrument, which supplements the general questionnaire and aids in clinical practice and decision-making.

Anisocytosis as a possible predictor of low cardiac output syndrome in children undergoing mitral valve surgery.

PURPOSE: Mitral valve surgery in children involves correcting congenital and acquired pathologies, with a reported mortality rate of 0.9%. Low cardiac output syndrome (LCOS) is a serious complication with the incidence of 20-25%. The aim of the study was to estimate possible prognostic factors of LCOS in children undergoing mitral valve procedure. MATERIAL AND METHOD: This single-center retrospective analysis enrolled children aged <18 years who underwent mitral valve surgery during 24 year period. Preoperative clinical and laboratory parameters, and operative factors were analyzed. RESULTS: Thirty consecutive pediatric patients (11 (37%) males and 19 (63%) females) in median (Q1 - Q3) age of 57 (25-115) months, who underwent mitral valve replacement, were included. The 30-day mortality was 7% (2 patients) and was related to postoperative multiorgan failure. LCOS occurred in 8 (27%) children. The receiver operator curve (ROC) analysis established parameters that have predictive value for LCOS occurrence: cardiopulmonary bypass (CPB) time, with 89 â€‹min as optimal cut-off point (AUC â€‹= â€‹0.744, p â€‹= â€‹0.011) yielding sensitivity of 100% and specificity of 42.9%; left ventricular ejection fraction (LVEF) â€‹< â€‹60 % (AUC â€‹= â€‹0.824, okp â€‹= â€‹0.001) with sensitivity of 62.5% and specificity of 93.75%; and red blood cell distribution width (RDW) above 14.5 % (AUC â€‹= â€‹0.840, p â€‹< â€‹0.001; sensitivity of 87.5% and specificity of 75%). CONCLUSIONS: In mitral valve replacement in pediatric patients, CPBtime above 89 â€‹min, preoperative LVEF below 60% and preoperative RDW above 14.5% can be regarded as the potential predictors of LCOS.

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.

BACKGROUND: Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum. CASE PRESENTATION: Here, we present a boy with KSS whose symptoms included cardiac conduction deficit, cardiomyopathy and growth hormone (GH) deficiency. The patient showed typical symptoms for KSS from early childhood (chronic progressive external ophthalmoplegia, retinopathy, short stature). Long-range PCR analysis disclosed a 7663-base pair heteroplasmic deletion in the mtDNA encompassing nucleotides 6340-14003. At 12 years of age, GH deficiency was recognized and recombinant growth hormone (rGH) therapy was started. At 15 years of age, a complete atrioventicular block was diagnosed and the patient received a pacemaker. During the following 6 months, progressive deterioration of the left ventricle was observed and an echocardiogram showed features of dilated cardiomyopathy. The rGH treatment was then discontinued at a final height of 163 cm. Unfortunately, due to multi-organ insufficiency and inflammation, the patient died at the age of 18 years. CONCLUSIONS: The response to rGH therapy in the patient was very satisfactory. The large mtDNA deletion had no apparent impact on the response to rGH. Cardiac disturbances occurred as part of the syndrome and were not related to rGH therapy; however, the progression of the disease led to death.

Heart Rate Asymmetry in Healthy Children.

Heart rate asymmetry (HRA) is a physiological phenomenon characterized by an unequal contribution of heart rate decelerations and accelerations to different heart rate variability (HRV) features. While HRA has been demonstrated in adults' ECGs of different duration, a similar investigation in healthy children has not been conducted. This study investigated the variance- and number-based HRA features in 96 healthy children (50 girls and 46 boys, aged 3-18 years) using 24-h ECGs. Additionally, we studied sex differences in HRA. To quantify HRA, variance-based and relative contributions of heart rate decelerations to short-term (C1d), long-term (C2d), and total (CTd) HRV, and the number of all heartbeats (Nd) were computed. Heart rate decelerations contributed more to C1d, but less to C2d and CTd, and were less frequent than heart rate accelerations. Short-term HRA was better expressed in boys. The majority of children (93.7%) had short-term HRA, 88.5% had long-term HRA, 88.5% had total HRA, and 99.0% had more accelerations than decelerations. No sex differences were observed for the rate of various HRA features. Heart rate asymmetry is a common phenomenon in healthy children, as observed in 24-h ECGs. Our findings can be used as reference data for future clinical studies on HRA in children.

The beneficial role of simple inflammatory blood indices in pediatric cardiology.

Simple whole blood analysis can effectively demonstrate complex changes in inflammatory responses to cardiovascular disorders in adults and enable the prediction of adverse outcomes or diminished survival. Such inflammatory activation has also been detected in the pediatric population. Blood analysis results are repeatable and readily available, which gives the method an advantage over others. Inflammatory phenomena such as a high leukocyte count and an increased neutrophil-to-lymphocyte ratio (NLR) are related to a poor prognosis of advanced heart defects and worse outcomes after pediatric cardiac surgery in the advanced stages of the disease. Surgery-associated inflammation exacerbates these diseases, and the inflammatory response may further complicate the postoperative period. Simple blood cell counts and indices may be beneficial for evaluating cardiac surgery outcomes and cardiovascular disorder prognosis in infants and children. This review summarizes current knowledge on inflammatory markers in pediatric cardiovascular diseases and surgery.

Rapidly Progressive Idiopathic Pulmonary Arterial Hypertension in a Paediatric Patient Treated with Lung Transplantation.

Pulmonary arterial hypertension (PAH) is a rare heterogeneous disorder in the paediatric population which is mostly associated with congenital heart disease. The management of paediatric idiopathic PAH (IPAH) is difficult due to insufficient comparative data and depends on the results of evidence-based adult studies with several pulmonary vasodilators, as well as the clinical experiences of paediatric experts. Our aim was to present the case of a 9-year-old girl who underwent several methods of treatment, including pharmacotherapy with a significant reaction to treprostinil, as well as bilateral lung transplantation. The patient's treatment was distinguished by the fact that the dose escalation was as rapid as that observed in the adult population. Due to the limited current evidence and knowledge, the initiation of treatment for these patients remains an individual choice. On the grounds of the number of non-specific symptoms, the diagnosis of this patient was a long process and based mainly on the differential diagnosis. The purpose of this paper is to study this example in order to highlight the importance of early symptoms and the quick implementation of intensive treatment. The applied methods may be useful in doubtful diagnosis processes and treatment procedures in the paediatric population.

Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease.

Familial thoracic aortic aneurysms and dissections may occur as an isolated hereditary trait or as part of connective tissue disorders with Mendelian inheritance, but severe cardiovascular disease in pediatric patients is extremely rare. There is growing knowledge on pathogenic variants causing the disease; however, much of the phenotypic variability and gene-gene interactions remain to be discovered. We present a case report of a 5.5-year-old girl with an aortic aneurysm and concomitant polycystic kidney disease. Whole exome sequencing was performed, followed by family screening by amplicon deep sequencing and diagnostic imaging studies. In the proband, two pathogenic variants were identified: p.Tyr257Ter in the LOX gene inherited from her mother, and p.Thr2977Ile in the PKD1 gene inherited from her father. All adult carriers of either of these variants showed symptoms of aortic disease. We conclude that the coexistence of two independent genetic variants in the proband may be the reason for an early onset of disease.

SARS-CoV-2 attacks the weakest point - COVID-19 course in a pediatric patient with Friedreich's ataxia.

COVID-19 pandemic is the biggest epidemiologic problem of the 21st century. A severe course of SARS-CoV-2 infection in children is rare. Sometimes, especially in patients with chronic disease, COVID-19 may be insidious and life-threatening. This article presents the course of COVID-19 in a 17-year-old boy with Friedreich's ataxia-induced hypertrophic cardiomyopathy. Although, the main symptoms of COVID-19 (i.e., fever, cough) were moderate at the beginning of the illness, the patient's condition deteriorated rapidly due to cardiac problems, atrial fibrillation, and heart failure. The patient required antiarrhythmic treatment and pharmacological and electrical cardioversion. Moreover, because of pneumonia requiring supplemental oxygen, remdesivir and convalescent plasma therapy was given to the patient., The administration of the antiviral treatment was crucial to the patient's recovery.

The Impact of COVID-19 Pandemic on Children with Pulmonary Arterial Hypertension. Parental Anxiety and Attitudes. Follow-Up Data from the Polish Registry of Pulmonary Hypertension (BNP-PL).

The COVID-19 pandemic has impacted healthcare systems worldwide. Little is known about the impact of the pandemic on medical and psycho-social aspects of children with rare diseases such as pulmonary arterial hypertension and their parents. The study is based on children registered in The Database of Pulmonary Hypertension in the Polish Population and a parent-reported survey deployed during the first 6 months of the pandemic. The questionnaire consisted of six question panels: demographic data, fear of COVID-19, General Anxiety Disorder-7 (GAD-7), social impact of pandemic, patients' medical status, and alarming symptoms (appearance or exacerbation). Out of 80 children registered, we collected 58 responses (72.5% response rate). Responders (parents) were mostly female (n = 55; 94.8%) at a mean age of 40.6 ± 6.9 years. Patients (children) were both females (n = 32; 55%) and males with a mean age of 10.0 ± 5.1 years. Eleven (19%) children had symptoms of potential disease exacerbation. Eight parents (72.7%) decided for watchful waiting while others contacted their GPs or cardiologists (n = 6; 54.5%). Three children had to be hospitalized (27.3%). Most planned hospitalizations (27/48; 56.2%) and out-patient visits (20/35; 57.1%) were cancelled, delayed, or substituted by telehealth services. Among the participating parents, the study shows very high levels of anxiety (n = 20; 34.5%) and concern (n = 55; 94.8%) and the need for detailed information (52; 89.6%) regarding COVID-19 and medical service preparedness during the pandemic. The COVID-19 pandemic has influenced child healthcare and caused high levels of anxiety among parents.

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.

BACKGROUND: The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of this study was to determine the frequency of 22q11.2 microdeletion in 87 children suffering from a congenital heart defect (conotruncal or non-conotruncal) coexisting with at least one additional 22q11.2DS feature and to carry out 22q11.2 microdeletion testing of the deleted children's parents. We also attempted to identify the most frequent heart defects in both groups and phenotypic traits of patients with microdeletion to determine selection criteria for at risk patients. METHODS: The analysis of microdeletions was conducted using fluorescence in situ hybridization (FISH) on metaphase chromosomes and interphase nuclei isolated from venous peripheral blood cultures. A molecular probe (Tuple) specific to the HIRA (TUPLE1, DGCR1) region at 22q11 was used for the hybridisation. RESULTS: Microdeletions of 22q11.2 region were detected in 13 children with a congenital heart defect (14.94% of the examined group). Microdeletion of 22q11.2 occurred in 20% and 11.54% of the conotruncal and non-conotruncal groups respectively. Tetralogy of Fallot was the most frequent heart defect in the first group of children with 22q11.2 microdeletion, while ventricular septal defect and atrial septal defect/ventricular septal defect were most frequent in the second group. The microdeletion was also detected in one of the parents of the deleted child (6.25%) without congenital heart defect, but with slight dysmorphism. In the remaining children, 22q11.2 microdeletion originated de novo. CONCLUSIONS: Patients with 22q11.2DS exhibit wide spectrum of phenotypic characteristics, ranging from discreet to quite strong. The deletion was inherited by one child. Our study suggests that screening for 22q11.2 microdeletion should be performed in children with conotruncal and non-conotruncal heart defects and with at least one typical feature of 22q11.2DS as well as in the deleted children's parents.

Circulating brain-derived neurotrophic factor, leptin, neuropeptide Y, and their clinical correlates in cystic fibrosis: a cross-sectional study.

INTRODUCTION: Cystic fibrosis (CF) involves chronic inflammation and decreased pulmonary function, which increase caloric demand. Yet, sufficient energy provision is hindered by reduced appetite and fat malabsorption. Brain-derived neurotrophic factor (BDNF), leptin, and neuropeptide Y (NPY) belong to energy balance-regulating factors. We aimed to assess their concentrations in CF patients in order to search for potential clinical correlates. MATERIAL AND METHODS: This was an exploratory, cross-sectional study. Patients' weight and height Z-scores, forced expiratory volume in 1 s (FEV1%), exocrine pancreatic status (fecal elastase-1), genotypes, and other characteristics were assessed. Serum concentrations of BDNF, leptin, NPY, IL-6, and TNF-α were measured using ELISA. RESULTS: The study enrolled 56 patients, of whom 29 (52%) were female and 17 (30%) were younger than 16 years. Median (1st-3rd quartile) mass Z-score was -0.85 (-1.56-(-0.36)); median FEV1 was 70.5% (45.0-89.5); 48 (86%) patients had exocrine pancreatic insufficiency and 8 (14%) diabetes. Overall, median concentrations were: BDNF: 33.91 ng/ml (26.40-40.43), leptin: 12.05 ng/ml (8.93-17.77), NPY: 2.86 ng/ml (1.75-4.42). None of these factors correlated with mass Z-score, FEV1%, IL-6 or TNF-α. Leptin and NPY correlated negatively (ρ = -0.62, p = 3 × 10-7); BDNF/NPY ratio was associated with leptin (ρ = 0.54, p = 2 × 10-5), BDNF/leptin ratio correlated with NPY (ρ = 0.60, p = 1 × 10-6). In a multivariable regression analysis NPY was weakly, but independently, associated with FEV1%, and leptin with age. CONCLUSIONS: BDNF and leptin were not associated with weight Z-score or FEV1%. Serum NPY concentrations seemed to be lower in CF patients with reduced pulmonary function independently of malnutrition and inflammation.

Children and Adolescents with Pulmonary Arterial Hypertension: Baseline and Follow-Up Data from the Polish Registry of Pulmonary Hypertension (BNP-PL).

We present the results from the pediatric arm of the Polish Registry of Pulmonary Hypertension. We prospectively enrolled all pulmonary arterial hypertension (PAH) patients, between the ages of 3 months and 18 years, who had been under the care of each PAH center in Poland between 1 March 2018 and 30 September 2018. The mean prevalence of PAH was 11.6 per million, and the estimated incidence rate was 2.4 per million/year, but it was geographically heterogeneous. Among 80 enrolled children (females, n = 40; 50%), 54 (67.5%) had PAH associated with congenital heart disease (CHD-PAH), 25 (31.25%) had idiopathic PAH (IPAH), and 1 (1.25%) had portopulmonary PAH. At the time of enrolment, 31% of the patients had significant impairment of physical capacity (WHO-FC III). The most frequent comorbidities included shortage of growth (n = 20; 25%), mental retardation (n = 32; 40%), hypothyroidism (n = 19; 23.8%) and Down syndrome (n = 24; 30%). The majority of children were treated with PAH-specific medications, but only half of them with double combination therapy, which improved after changing the reimbursement policy. The underrepresentation of PAH classes other than IPAH and CHD-PAH, and the geographically heterogeneous distribution of PAH prevalence, indicate the need for building awareness of PAH among pediatricians, while a frequent coexistence of PAH with other comorbidities calls for a multidisciplinary approach to the management of PAH children.

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.