DISORDERS OF MOTOR IMPLEMENTATION OF UTTERANCE IN ADOLESCENTS AFTER RADICAL CORRECTION OF CONGENITAL HEART DEFECTS

Status epilepticus (SE) is a severe complication of cardiac surgery for cyanotic congenital heart defects in children. SE significantly worsens neurological prognosis and increases the likelihood of fatal outcomes. In most cases, epileptic seizures and status epilepticus in intensive care unit patients lack clinical manifestations and are detected exclusively through electroencephalography (EEG). In this study, we present a series of clinical observations demonstrating the transformation of SE from clinical to electrographic manifestations during anticonvulsant therapy in children with cyanotic congenital heart defects during the postoperative period. We emphasize the critical importance of EEG in managing SE in pediatric intensive care settings.

Mortality rates after surgery for congenital heart defects in children and surgeons' performance

To evaluate the relationship between the cerebral tissue oxygenation index measured by near-infrared spectroscopy and central venous oxygen saturation (SvO2) after corrective surgery of congenital heart defects in children. Prospective observational clinical study. A tertiary neonatal and paediatric intensive care unit for paediatric cardiology. Neonates and children consecutively admitted to the paediatric cardiology intensive care unit after corrective surgery of non-cyanotic congenital heart defects. Forty-three children were studied. Cerebral tissue oxygenation index, measured non-invasively by near-infrared spectroscopy, was compared to SvO2, measured by a catheter placed in the right atrium, and to haemodynamic and respiratory parameters. Pearson's correlation coefficients and p values were calculated. Simultaneously measured values for SvO2 (62.2+/-9.8%, 39.8-80.4%) and cerebral tissue oxygenation index (56.7+/-8.8%, 35.8-71.2%) showed a significant correlation ( r=0.52, p<0.001). Cerebral tissue oxygenation index and SvO2 are not interchangeable parameters, but cerebral tissue oxygenation index reflects the haemodynamic influence on cerebral oxygenation after cardiovascular surgery. Further work is necessary to confirm the clinical role of continuous non-invasive measurement of cerebral tissue oxygenation index with regard to the variations of global systemic oxygen consumption after cardiac surgery in children.

Increased prevalence of cleft lip with or without cleft palate (CL(P], isolated cleft palate (CP), and congenital heart defects (CHD) in children of epileptic mothers have been ascribed to early fetal exposure to antiepileptic drugs (AED). However, common genetic factors responsible for both the malformations in question and the epileptic disorder might be of relevance for the increased rate of CL(P), CP, and CHD, rather than the influence of AED. The present review analyzes the literature on genetic and environmental etiologic factors (i.e. AED and epileptic seizures) that have been reported to increase the rate of CL(P), CP, and CHD in children of parents with epilepsy. Our data suggest that genetic factors are of minor importance for the etiology of facial clefts in offspring of epileptic patients. The rate of facial clefts was increased by a factor of 4.7 in children of AED-treated mothers with epilepsy compared with the background population values. Children of fathers with epilepsy and sibs of epileptic patients had no more facial clefts than expected. The rate of CHD in children of mothers and fathers with epilepsy was comparable to population figures. The role of epileptic seizures as a causative factor for CL(P), CP, and CHD is not settled, but seems to be of limited importance. Areas of future research are outlined concerning the teratogenic role of AED and their metabolites, especially on the postnatal intellectual development of the exposed children. Finally, the need for studies on prophylactic measures as well as the necessity of international surveillance systems on new AED teratogenicity are emphasized.

Background. Cardiac surgery in combination with hypothermia, ischaemia and reperfusion leads to an inflammatory response causing postoperative complications. Toll-like receptors are signalling molecules through which some functions of innate immunity can be activated, and polymorphic variants in the TLR-family genes can be predictors of complications after cardiac surgery.Aim. To study the associations of TLR-family genes with infectious and non-infectious complications of cardiac surgery for congenital heart defects.Methods. The study included 89 children (44 girls and 45 boys) with congenital heart defects who underwent cardiac surgery. Complications occurred in 47 children 47 days after cardiac surgery. There were no complications in 42 children. Genotyping was performed by real-time PCR using TaqMan probes.Results. A two-locus model of gene-gene interaction between TLR1 rs5743551 and TLR2 rs3804099 was the best fit, accounting for 4.01% of phenotypic entropy. The TLR2 gene polymorphic variant rs5743708 had the highest predictive potential (2.59%).Conclusion. The development of postoperative complications of cardiac surgical treatment for congenital heart defects can be due to the synergistic effect of the polymorphic variants rs5743551 in the TLR1 gene and rs3804099 in the TLR2 gene. This effect occurs through the features of TLR1 and TLR2 transcription, the subsequent expression of receptors on cells and signalling which activates the synthesis of proinflammatory cytokines and chemokines.Received 25 February 2021. Revised 11 May 2021. Accepted 12 May 2021.Funding: The work is supported by the complex program of fundamental research of the Siberian Branch of the Russian Academy of Sciences (No. 0554-2019-0002).Conflict of interest: The authors declare no conflicts of interests.Contribution of the authorsConception and study design: A.V. Shabaldin, A.V. Ponasenko, A.V. TsepokinaData collection and analysis: A.A. Anikeenko, A.V. Tsepokina, S.A. ShmulevichStatistical analysis: A.V. Shabaldin, A.V. TsepokinaDrafting the article: A.V. Shabaldin, A.V. Tsepokina, A.V. PonasenkoCritical revision of the article: A.V. TsepokinaFinal approval of the version to be published: A.V. Tsepokina, A.A. Anikeenko, S.A. Shmulevich, A.V. Ponasenko, A.V. Shabaldin

AimCongenital heart defects represent an important health problem. The assessment of congenital heart defects (CHD) in childrenMaterial and MethodWe carried out a retrospective study on congenital heart defects (CHD) in...

One of the main goals of corrective surgery of congenital heart defects in children is the improvement of quality of life, which in young children is predominantly determined by exercise capacity. It is not known whether this goal can be achieved in school-aged children who have undergone cardiac surgery in infancy. To determine if primary school-aged children who underwent surgery to correct congenital heart defects in infancy are physically as fit as their peers. We examined 84 children with congenital heart defects, aged 4 to 11 years, after surgical repair. Fifty-two children had simple defects (ie, atrial or ventricular septal defect, coarctation of the aorta). Thirty-two children had complex defects (ie, tetralogy of Fallot, pulmonary atresia with ventricular septal defect). All patients underwent exercise testing performed on a specially modified bicycle ergometer. Ninety-eight sex- and age-matched healthy children served as the control group. There was no gender difference, either in healthy children or in the group with congenital heart defects, regarding exercise testing and that the healthy children reached a mean +/- SD normalized maximal performance of 2.8 +/- 0.3 W/kg. The same range was found for the children who had undergone surgery to correct simple heart defects. The children operated on to correct complex heart defects showed significantly impaired mean normalized maximal performance, although this tended to be lower in the group that had pulmonary atresia with a ventricular septal defect than in the group with tetralogy of Fallot (mean normalized maximal performance, 1.9 W/kg vs 2.3 W/kg). The goal of normal exercise capacity in childhood after heart surgery is achieved in those with simple heart defects only. In children with complex heart defects impaired exercise performance persists, depending on the severity of the heart defect and probably on chronotropic incompetence.

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The problem of congenital heart defects (CHD) in children, it is determined not only by a severe course, early development of disability, high-cost methods of treatment, but also by regional peculiarities. On the basis of the register of CHD in children in Chelyabinsk, the monitoring of prevalence and morbidity indicators from 2000 to 2020, calculated per 1000 children’s population, taking into account its average number, was carried out. During the analyzed period, there was an almost 3-fold increase in the total number of children with CHD: from 691 people in 2000 to 1903 people in 2020. A stable growth of this pathology was revealed in the first year of their life: 3.9 % in 2000, 11.0 % in 2012, 12.3 % in 2020. The prevalence and primary incidence of CHD over the past 20 years have been characterized by a steady increase: from 3.68 and 0.72 in 2000 to 8.04 and 1.48 in 2020, respectively. Septal defects and open ductus arteriosus occupy leading positions in the structure of all CHD, accounting for 61 % in 2000 and 74 % in 2020. An increase in the number of early surgical interventions, especially during the first year of a child’s life (from 11 % in 2000 up to 31 % in 2020) is associated with a decrease in disability (from 15.7 % in 2000 to 4.8 % in 2020). Monitoring of registry data, especially at the regional level, can be a useful mechanism for assessing the situation of CHD, monitoring the effectiveness of both conservative and cardiac surgical treatment.

Although the use of extracorporeal life support (ECLS) following repair of congenital heart defects in children is increasing, the criteria for ECLS usage in these patients is not well defined. The overall survival of such patients is disappointingly low and may depend on both the indication for support and the time at which ECLS is commenced. Between January 1993 and December 1996, 727 children underwent surgery for congenital heart defects at our institution with an overall hospital mortality of 5.8% (42 children). Nine of these children were treated with ECLS postoperatively. There were seven males and two females with a mean age of 7.2 months (range 2 weeks-3 years). Seven children could not be weaned from cardiopulmonary bypass (CPB) in the operating theatre. A further two were treated with ECLS later on during the postoperative period (commenced at 14 and 48 h). Full veno-arterial extra corporeal membrane oxygenation (ECMO) support was used in all children except one in whom a left ventricular assist device (LVAD) was used. The median duration of support was 121 h (range 15-648 h). Four children (44%) were weaned from support and two of these are long-term survivors. Of the seven children in whom ECLS was instituted because of failure to wean from CPB, there was one long term survivor (LVAD support). Of the two patients in whom ECLS was instituted during the post-operative period there is one long-term survivor. Weaning form ECLS and decannulation in 44% of our patients is comparable to other series of post-cardiotomy patients requiring ECLS. However, full veno-arterial ECMO instituted because of a failure to wean from CPB during corrective surgery is associated with an extremely poor outcome (zero long-term survivors in six patients).

Thymectomy is a stage of surgery when treating some congenital heart defects. Thymus gland is the central organ of immune system. This organ is the primary site of T-cell lymphopoiesis and central tolerance to autoantigens during fetal and early postnatal life. If performed neonatally or in infancy, the thymectomy may cause restriction of these immune functions. Suppression of T-cell lymphopoiesis in children with thymectomy can be estimated as a subpopulation of thymic naive T helper cells (CD3+CD4+CD45RA+CD31+). To perform this task, we evaluated subpopulations of thymic naive T helper lymphocytes with CD3+CD4+CD45RA+CD31+ phenotype in the children (n = 40) who underwent thymectomy during surgical treatment of congenital heart diseases in neonates, or in early postnatal life. Their data were compared with children who underwent surgical treatment of congenital heart disease without thymectomy at the same age periods (n = 12), and healthy children (n = 23). We have revealed that thymectomy in frames of surgery of congenital heart disease leads to reduced thymic naive T helper lymphocytes with CD3+CD4+CD45RA+CD31+ phenotype in peripheral blood. Early execution of thymectomy is associated with deficiency of the thymic naive T helper lymphocytes in the peripheral blood, as well as a decrease in T helper cells (CD3+CD4+). The number thymic naive T helper lymphocytes in peripheral blood negatively corrrelated with terms elapsed after the surgery of congenital heart defects in children.

Study question Are children conceived after assisted reproductive technology (ART) more likely to be born with congenital heart defects (CHDs) than those born after spontaneous conception (SC)? Summary answer Major CHDs and severe CHDs are associated with ART, with a higher risk in both ART-conceived singletons and multiples compared to singletons from SC. What is known already Children born after ART have higher risk of birth defects compared to children born after SC. Among these defects, CHDs hold the highest prevalence, accounting for about 50% of all major birth defects and affecting approximately 1-2% of children in the general population. Several cohort studies and systematic reviews, among these a recent review including 41 studies and in total 25,856 ART children, shows increased risk of CHDs in children born after ART. However, conflicting findings have been reported for specific CHDs. Study design, size, duration This Nordic registry-based cohort study included 7,747,637 liveborn children, with 171,735 conceived after ART. All liveborn children (singletons and multiples) in Denmark (1994–2014), Finland (1990–2014), Norway (1984–2015), and Sweden (1987–2015) were included. National data from ART registries, medical birth registries, patient registries, cause of death registries, and population registries were cross-linked. Participants/materials, setting, methods The International Classification of Diseases (ICD) versions 8, 9, 10 were used for selection of CHDs. Major and severe CHDs were defined according to European Concerted Action on Congenital Anomalies and Twins (EUROCAT). Outcomes were major CHDs, severe CHDs, six hierarchical CHD lesion groups, and ten selected major CHDs. CHD diagnoses were considered prenatally or within the first year of life in Denmark, Finland, Sweden, and prenatally or at birth in Norway. Main results and the role of chance Major CHDs occurred among 1.84% (n = 3159) children born after ART and among 1.15% (n = 86,824) children born after SC, with adjusted odds ratio (AOR) 1.36; 95% CI 1.31–1.41. Risk was highest in multiples, regardless of conception method. Severe CHDs were detected in 0.35% (n = 594) children born after ART and in 0.26% (n = 19,375) children born after SC; AOR 1.30; 95% CI 1.20–1.42. When analysing the risk of CHD for the specific groups of CHDs by the hierarchical classification, children born after ART had higher risk of CHDs than children born after SC for five of the six lesion groups: conotruncal defects, non-conotruncal defects, ventricular septal defect, atrial septal defects, and other CHDs. ART was further associated with an elevated risk in four of ten selected major CHDs. Major CHDs occurred among 1.62% (n = 2059) singletons born after ART and among 1.11% (n = 18,539) singletons born after SC; AOR 1.19; 1.14–1.24. The prevalence of severe CHDs was 0.31% (n = 399) among singletons born after ART and 0.25% (n = 18,539) among singletons born after SC; AOR 1.20; 95% CI 1.09–1.33. In singletons born after ART, no difference was seen between ICSI and IVF or between frozen and fresh embryo transfer for major CHDs or severe CHDs. Limitations, reasons for caution A main limitation in this study is the lack of information on CHDs in miscarriages, pregnancy terminations, and stillbirths. Another limitation is that information on specific techniques used in assisted reproduction was not available from Finland. Lastly, we did not have information on causes of infertility. Wider implications of the findings CHDs, although rare, imply severe risks. Our study reveals an association between ART and major CHDs. While most CHD-affected children survive to adulthood, high morbidity and mortality rates persist in childhood and adulthood. The potential benefit of fetal echocardiography screening in ART pregnancies, beyond routine obstetric ultrasound, remains uncertain. Trial registration number ISRCTN 11780826

Prevalence of significant congenital heart defects in children of parents with Fallot's tetralogy

HighlightsSpecific associations between specific risk factors and types of CHD have been identified, which allows differentiating high-risk groups.Pathogenetic mechanisms of the influence of maternal factors on the formation of congenital heart defects, including placental dysfunction, have been established.The need for comprehensive prevention, including pregravid correction of modifiable factors and optimization of prenatal screening in the formed risk groups, has been substantiated. AbstractThe article presents a comprehensive analysis of risk factors for the development of congenital heart defects (CHD) in children associated with the health status of the mother and environmental exposure. The main attention is paid to the mechanisms of influence of somatic pathology of the mother, including metabolic disorders (diabetes mellitus, obesity), pregnancy complications (preeclampsia) and environmental factors on the processes of cardiogenesis. The key pathogenetic pathways are considered, including placental function disorders, epigenetic changes and oxidative stress. Particular importance is attached to the analysis of the relationship between specific risk factors and types of developing heart defects. Modern approaches to the prevention of CHD are presented, including pregravid preparation, correction of modifiable risk factors and improvement of prenatal diagnostic methods. The importance of an interdisciplinary approach to reducing the incidence of congenital cardiac pathology is emphasized.

The prevalence of adult congenital heart disease (ACHD) has risen markedly over the past 2 decades, with the number of adults now rivaling the number of children with severe defects.1 This is, perhaps, not surprising given that current care allows nearly 90% of infants born with heart defects to thrive into their adult years.1,2 This remarkable triumph is tempered, however, by the realization that early interventions were reparative and not curative. Numerous complications may surface years after uneventful childhood courses, justifying vigilant clinical follow-up throughout adulthood. The 12-lead ECG remains an invaluable cornerstone in the clinical appraisal of adults with congenital heart disease that, in certain circumstances, provides diagnostic and/or prognostic information. The present review imparts a clinical perspective to ECG interpretation in ACHD, emphasizing practical and pathogenomonic findings in the more frequently encountered congenital defects in adults. Anatomic features of the conduction system relevant to ECG findings in ACHD are summarized, including variations in the location of the sinus node, atrioventricular (AV) node, and His-Purkinje system. Thereafter, pertinent ECG features are highlighted for common subtypes of ACHD (Table). Examples are provided throughout for illustration. View this table: Table. Typical ECG Features in Common Forms of ACHD ### Sinus Node In the morphologically normal heart, a crescent-shaped sinus node is characteristically located epicardially along the lateral aspect of the superior cavoatrial junction. It generates a P-wave axis typically between 15° and 75°. Most patients with ACHD have normally positioned atrial chambers, called atrial situs solitus, with normal sinus node location. The position of the sinus node may, however, vary with the atrial chambers and their appendages. #### Juxtaposition of the Atrial Appendages In juxtaposition of the atrial appendages, both appendages are on the same side of the arterial pedicle rather than each being ipsilateral to its respective atrium. Left juxtaposition, with left-sided atrial appendages, frequently accompanies tricuspid atresia and has …