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Aim: This study aimed to develop a model to help parents cope with decisional conflict. Background: Parents of children with congenital heart defect experience decisional conflict when they are uncertain about treatment decisions for their child, which may lead to delay in seeking care or distress over the decision made. Design: Correlational design with model building and data triangulation was used. Methods: Data were collected through surveys and interviews with a consecutive sample of 221 parent respondents from June to December 2018. Structural equation modelling and qualitative data analysis were used. Results: Lower decisional conflict was seen in parents with higher income, more nurse support and physician risk communication. Time delay for surgery was correlated with the child's age, social service coverage, and social support. Decisional conflict mediated the influence of income, nurse support and physician risk communication on satisfaction with decision. Based on model fit parameters, the emerging model is a good and parsimonious model of decisional conflict. The overall theme, 'Deciding for Surgery: What Matters Most', described the processes parents went through in making treatment decisions. Conclusion: Nurses may help parents feel more certain, less conflicted, and more satisfied with their decision by addressing factors including knowledge gaps, personal values, available support, and resource access. Summary statement: What is already known about this topic? Decisional conflict occurs when parents are uncertain of the best action for their child because treatment options entail risks for undesirable outcomes, value compromise, unclear prognosis, or anticipated regret over the decision.Professional support, information, and communication are vital to parents' decision‐making process.Child, parent, and support factors may influence parent treatment decisions in varied paediatric conditions. What this paper adds? Child's age at the time of decision‐making had an effect on the delay in surgery. However, assisting parents to weigh their options and focus on personal values allowed them to make their treatment decision.Low income, costly health services, and bureaucratic processes impeded the timely availment of surgery. Healthcare reforms that provide a system of government funding, streamlined health structure, and social insurance may be looked into.Family support weighed in on the parents' decision to delay surgery for fear of blame or guilt. Providing relevant information enabled parents to make a choice and stand by their decision regardless of the outcome. The implications of this paper: Modelling provides a framework to identify which factors are more important and how they interact to affect decision‐making. It may be used as an approach to find solutions to clinical problems for groups with different diagnoses.Though nursing support, information, and communication are essential, a more holistic family nursing care approach may be considered to assist parents to make appropriate treatment decisions for their child.Familiarity with the healthcare system may equip nurses to aid parents in processing available healthcare funding and dealing with financial uncertainty affecting decisions for their child's treatment. [ABSTRACT FROM AUTHOR]

Pentalogy of Cantrell is a congenital anomaly characterized by a combination of birth defects involving the sternum, diaphragm, pericardium, abdominal wall, and heart. Pentalogy of Cantrell is a rare anomaly with high mortality. This paper describes the treatment of a 9-month-old girl with pentalogy of Cantrell, pentalogy of Fallot, and left ventricular diverticulum. The patient is alive and well 13 years after surgery. [ABSTRACT FROM AUTHOR]

Context: Congenital heart disease (CHD) is a leading cause of mortality by birth defects with significant social and economic burden. Pulse oximetry as a safe and non-invasive screening method, and with its potential for early detection of CHD has improved neonatal health outcomes. Objectives: The aim of this study was to systematically review economic evaluation studies that compared pulse oximetry with current programs to diagnose early detection of CHD in full-term newborns. Data Sources: A systematic review was conducted according to preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, and related articles published from 1995 up to March 2020 were searched in different databases (MEDLINE, EMBASE, PubMed, Science Direct, Google Scholar, Scopus, NHS EED, Science Citation Index, MagIran, Cochrane Library, EconLit and SID). The articles were selected based on inclusion and exclusion criteria. Consolidated health economic evaluation reporting standards (CHEERS) statement checklist was used to qualitatively evaluate the papers. Overall, 7 articles were included in the study. Results: Timely diagnosis was considered as main effectiveness health outcome in most studies. The highest and lowest values of incremental cost-effectiveness ratio (in two-phase studies) were €139,000 and $100 per infant in the Netherlands and Colombia respectively; and (in one-phase studies) were £24,000 and £1,489 per infant both belonging to the UK. Implementing pulse oximetry method concurrent with the clinical examination is more cost-effective. The reviewed studies had been conducted in high-income and upper middle-income countries; therefore, when the results are generalizing by policy makers in different health systems, a substantial precaution approach is needed. [ABSTRACT FROM AUTHOR]

Aims. The aim of this retrospective study was to determine the detection rate of the pathogenic copy number variants (CNVs) in a cohort of 33 foetuses - 32 with CHD (congenital heart defects) and 1 with kidney defect, after exclusion of common aneuploidies (trisomy 13, 18, 21, and monosomy X) by karyotyping, Multiplex ligation - dependent probe amplification (MLPA) and chromosomal microarray analysis (CMA). We also assess the effectivity of MLPA as a method of the first tier for quick and inexpensive detection of mutations, causing congenital malformations in foetuses. Methods. MLPA with probe mixes P070, P036 - Telomere 3 and 5, P245 - microdeletions, P250 - DiGeorge syndrome, and P311 - CHD (Congenital heart defects) was performed in 33 samples of amniotic fluid and chorionic villi. CMA was performed in 10 relevant cases. Results. Pathogenic CNVs were found in 5 samples: microdeletions in region 22q11.2 (≈2 Mb) in two foetuses, one distal microdeletion of the 22q11.2 region containing genes LZTR1, CRKL, AIFM3 and SNAP29 (≈416 kb) in the foetus with bilateral renal agenesis, 8p23.1 (3.8 Mb) microdeletion syndrome and microdeletion in area 9q34.3 (1.7 Mb, Kleefstra syndrome). MLPA as an initial screening method revealed unambiguously pathogenic CNVs in 15.2 % of samples. Conclusion. Our study suggests that MLPA and CMA are a reliable and high-resolution technology and should be used as the first-tier test for prenatal diagnosis of congenital heart disease. Determination of the cause of the abnormality is crucial for genetic counselling and further management of the pregnancy.

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Aim. This paper is a report of a study of the process of grandparent involvement with siblings of preschool children with hypoplastic left heart syndrome. Background. An increasing number of grandparents are involved in parental or near-parental roles with their grandchildren. Most research concerns grandparent involvement due to parental issues (e.g. teenage pregnancy, mental illness, addiction). Some research addresses grandparent involvement when their grandchild is ill. Grandparents' 'double concern' for both their adult children and their ill grandchildren is reported in the literature. In this paper, we describe a third concern for grandparents: the sibling(s) of their sick grandchild. Method. Individual interviews were conducted in 2007 with 15 grandparents of six preschool children with complex congenital heart disease. Open and selective coding, categorization, and theoretical memoing were used to analyse the data. Findings. 'Stepping in as needed' and 'safeguarding relationships' were identified as two core categories related to grandparenting siblings of children with heart disease. Grandparents stepped into a parent role with toddler and preschool-aged siblings by attending to their daily care routines, recreational and play times, and relational needs while parents were occupied with their sick and hospitalized infants. Grandparents' concerted efforts to sustain parent-child and child-sibling relationships were also striking. Conclusion. Our findings extend the concept of 'double concern' to 'triple concern', and direct a research and practice focus towards the unexplored roles and needs of grandparents and siblings in families whose young children have life-threatening illnesses. [ABSTRACT FROM AUTHOR]

Aims: To determine the frequency of pregnancy terminations due to prenatal congenital heart defect (CHD) and assess the agreement fetal echocardiography (FECHO) and autopsy findings. Methods: The data were retrospectively assessed between 2008 and 2017 in a population of 116 698 live births. The correlations between the FECHO and autopsy findings were classified into five levels of agreement: complete, partial, altered diagnosis, disagreement, and unfeasible autopsy. Results: Totally, 293 CHDs were identified and 49% of families (143/293) decided to terminate the pregnancy. In 1% (2/143) of cases, the autopsy could not be performed, for the other 99% (141/143), the pathologist confirmed the presence of CHDs. Complete agreement between FECHO and autopsy was achieved in 85% (122/143). In 10% (14/143) of cases, the pathologist found minor findings, which were not described in the FECHO. In 4% (5/143) of cases, the pathologist changed the main diagnosis. Conclusion: Altogether, the results indicated that FECHO is a highly sensitive method for the prenatal detection of CHD but is incapable of detecting the complete spectrum of cardiac defects. Autopsies verified the diagnosis, confirmed the overall impairment in the fetus, and provided data for further counselling of the affected family.

Aim: To study congenital heart defects (CHDs), evaluate their relation to extra-cardiac pathologies, and assess the significance of prenatal diagnostics for heart diseases. Methods: Data from 1999-2017 were analyzed for the incidence of significant CHDs in fetuses (prenatal ultrasound/echocardiography) and children, including, where applicable, autopsy data and genetic evaluation. Results: Among 220,400 fetuses, 819 (3.7 cases per 1000) significant CHDs were observed. Of the total, 53% (435/819) of CHDs were diagnosed prenatally. The heart defect was an isolated impairment in 78% (640/819), associated with a genetic impairment in 16% (128/819), and with extra-cardiac malformations without genetic pathology in 6% (51/819). Chromosomal aberrations were diagnosed prenatally in 70% (90/128) of those affected and extra-cardiac conditions in 86% (44/51). The CHD and genetic pathology association was more frequent prenatally [21% (90/435) vs. postnatally: 10% (38/384; P

A plethora of studies have shown that heart diseases have become the number one killer in the world. Congenital Heart Defect (CHD) is one of the most commonly observed heart defect in an increasing number of newborns. Various research work has been done for CHD detection based on clinical data, however very less work has been with non-clinical data of the patient. Hence in this work, we explore the best suitable approach for non-clinical information, which is prominently no invasive, of the pregnant women in diagnosing the chances of CHD in a child that lives in their womb. For this purpose, a variety of machine learning algorithms including the Naïve Bayes (NB) and the Feedforward Artificial Neural Network (ANN) have been explored. Few relevant researches done previously on the dataset of this problem, used the weighted Support Vector Machine (WSVM) and the weighted Random Forest (WRF) models, however, the state of the art neural network model, used in this paper, significantly improved the CHD detection performance. The results show that the ANN model yields a high accuracy of 99.6% and an impressive weighted accuracy of 90.9% on the selected dataset. Hence it may be strongly suggested to build an ANN-based model for CHD detection in yet to be born babies using such noninvasive nonclinical datasets. [ABSTRACT FROM AUTHOR]

Transposition of the great arteries (TGA) is a conotruncal abnormality characterized by discordant ventriculoarterial alignments, with the aorta arising from the right ventricle and the pulmonary artery arising from the left ventricle and resultant parallel circulation of the systemic and pulmonary circuits. TGA can be dextro-TGA or levo-TGA based on the position of the aortic valve, right or left, regarding the pulmonary valve, and simple or complex TGA based on associated cardiac anomalies. With an incidence of 0.2-0.3/1,000 live births, TGA is the secondmost common cyanotic heart disease following the tetralogy of Fallot. Around 98% of TGA cases have a normal four-chamber view (4CV). The International Society of Ultrasound in Obstetrics and Gynecology and the American Institute of Ultrasound in Medicine added evaluation of the outflow tracts, three-vessel view (3VV), and three-vessel trachea view (3VTV) which improved the sensitivity of ultrasound screening for congenital heart disease (CHD). However, the prenatal detection rate of TGA, especially simple TGA, is generally low internationally, ranging from 25 to 50%. Without treatment, 50% of these infants die within the 1st month and 90% within the 1st year of life. The prenatal diagnosis of TGA improves postnatal outcomes through planned delivery at a tertiary care center and timely perinatal management. Immediately after birth, prostaglandin-E1 is given to keep the ductus arteriosus open to allow the mixing of oxygen-rich and oxygen-poor blood. If necessary, an atrial septostomy can be performed for short-term survival. Arterial switch operation (ASO) restores normal pulmonary and systemic circulation, with a 20-year survival rate of 90-97%. [ABSTRACT FROM AUTHOR]

Left ventricular outflow tract obstruction (LVOTO), a major form of outflow tract malformation, accounts for a substantial portion of congenital heart defects (CHDs). Unlike its prevalence, the genetic architecture of LVOTOremains largely unknown. To unveil the genetic mutations and risk genes potentially associated with LVOTO, we enrolled a cohort of 106 LVOTO patients and 100 healthy controls and performed a whole-exome sequencing (WES). 71,430 rare deleterious mutations were found in LVOTO patients. By using gene-based burden testing, we further found 32 candidate genes enriched in LVOTO patient including known pathological genes such as GATA5 and GATA6. Most variants of 32 risk genes occur simultaneously rather exclusively suggesting polygenic inherence of LVOTO and 14 genes out of 32 risk genes interact with previously discovered CHD genes. Single cell RNA-seq further revealed dynamic expressions of GATA5, GATA6, FOXD3 and MYO6 in endocardium and neural crest lineage indicating the mutations of these genes lead to LVOTO possibly through different lineages. These findings uncover the genetic architecture of LVOTO which advances the current understanding of LVOTO genetics. [ABSTRACT FROM AUTHOR]

To explore the effect of a daily goal checklist on pediatric cardiac intensive care unit (PCICU) length of stay (LOS) after congenital heart surgery. This study is a prospective randomized single-center study. Group characteristics were as follows: STANDARD group: n = 30, 36.7% female, median age 0.9 years; control group: n = 33, 36.4% female, median age 1.1 years. Invasive ventilation time, STAT categories, mean vasoactive-inotropic score (VIS)24h, maximal (max.) VIS24h, mean VIS24–48h, max. VIS24–48h, VIS category, number of sedatives, analgesics, diuretics, number of deployed diagnostic modalities, morbidities, and mortality did not differ between both groups. Median PCICU LOS was 96.0 h (STANDARD group) versus 101.5 h (control group) (p = 0.63). In the overall cohort, univariate regression analysis identified age at surgery (b = −0.02), STAT category (b = 18.3), severity of CHD (b = 40.6), mean VIS24h (b = 3.5), max. VIS24h (b = 2.2), mean VIS24–48h (b = 6.5), and VIS category (b = 13.8) as significant parameters for prolonged PCICU LOS. In multivariate regression analysis, age at surgery (b = −0.2), severity of CHD (b = 44.0), and mean VIS24h (b = 6.7) were of significance. Within the STANDARD sub-group, univariate regression analysis determined STAT category (b = 32.3), severity of CHD (b = 70.0), mean VIS24h (b = 5.0), mean VIS24–48h (b = 5.9), number of defined goals (b = 2.6), number of achieved goals (b = 3.3), number of not achieved goals (b = 10.8), and number of unevaluated goals (b = 7.0) as significant parameters for prolonged PCICU LOS. Multivariate regression analysis identified the number of defined goals (b = 2.5) and the number of unevaluated goals (b = −3.0) to be significant parameters. Conclusion: The structured realization and recording of daily goals is of advantage in patients following pediatric cardiac surgery by reducing PCICU LOS. What is known: • Communication errors are the most frequent reasons for adverse events in intensive care unit patients. • Improved communication can be achieved by discussion and documentation of the patients' goals during daily rounds. What is new: • In the overall cohort age at surgery, severity of congenital heart defect and mean vasoactive inotropic score within the first 24 hours had significant impact on pediatric cardiac intensive care unit (PCICU) length of stay (LOS). • In the intervention group, the number of defined goals and the number of unevaluated goals were significant parameters for prolonged PCICU LOS. [ABSTRACT FROM AUTHOR]

Rheumatic valvular heart disease (RVHD) and congenital heart defect (CHD) are one of the major causes of child deaths in Pakistan. According to a survey, prevalence of RVHD in Pakistan is among the highest in the world and 3.9 % of children suffer from CHD annually. If the diagnostic treatment is done earlier, then the diseases can be controlled before reaching the critical stage. Due to the lack of physicians in poor countries, there is a need for an automatic diagnostic toolkit for congenital and RVHD so that the early and accurate diagnosis of disease could be made possible even in the absence of expert physicians. In this paper, a diagnostic toolkit for rheumatic valvular and congenital heart defect is designed and developed using feed-forward back-propagation network based on symptomatic and clinical parameters. The system is built using MatLab toolkit for neural networks and graphical user interface. [ABSTRACT FROM AUTHOR]

This paper represents the research results of echocardiographic study for early prediction of mortality. The classification task is solved by analyzing the echocardiographic data from medical information system. Echocardiographic data of 90000 hearts condition extracted directly from medical information system were analyzed. The considered echocardiographic studies were conducted for patients with CHF, CHD, hypertension, heart arrhythmia, valvular heart disease, autoimmune disease, congenital heart defect, cardiomyopathy, endocrine disease, heart failure, mixed connective tissue disease, cancer, aneurism. Using machine learning methods and neural networks it is possible to make an early prediction of mortality based on instrumental echocardiographic study. It can be offered to clinicians as support for accurate, reasonable saving clinical decisions with minimization risks for patient's health. The classification task mortality prediction is solved by machine learning methods with 97% ROC curve. The simple echocardiographic test results like FV Simpson, systolic volume, the valves condition, the condition of the ascending aorta and other echocardiographic data are used as predictors. Such a simple approach to solving critical tasks can make the method widely used in clinical practice. [ABSTRACT FROM AUTHOR]

Please cite this paper as: Obermann-Borst S, Vujkovic M, de Vries J, Wildhagen M, Looman C, de Jonge R, Steegers E, Steegers-Theunissen R. A maternal dietary pattern characterised by fish and seafood in association with the risk of congenital heart defects in the offspring. BJOG 2011; DOI: 10.1111/j.1471-0528.2011.02984.x. Objective To identify maternal dietary patterns related to biomarkers of methylation and to investigate associations between these dietary patterns and the risk of congenital heart defects (CHDs) in the offspring. Design Case-control study. Setting Western part of the Netherlands, 2003-08. Population One hundred and seventy-nine mothers of children with CHD and 231 mothers of children without a congenital malformation. Methods Food intake was obtained by food frequency questionnaires. The reduced rank regression method was used to identify dietary patterns related to the biomarker concentrations of methylation in blood. Main outcome measures Dietary patterns, vitamin B and homocysteine concentrations, biomarkers of methylation ( S-adenosylmethionine [SAM] and S-adenosylhomocysteine [SAH]) and the risk of CHD estimated by odds ratios and 95% confidence intervals. Results The one-carbon-poor dietary pattern, comprising a high intake of snacks, sugar-rich products and beverages, was associated with SAH ( β = 0.92, P < 0.001). The one-carbon-rich dietary pattern with high fish and seafood intake was associated with SAM ( β = 0.44, P < 0.001) and inversely with SAH ( β = −0.08, P < 0.001). Strong adherence to this dietary pattern resulted in higher serum ( P < 0.05) and red blood cell ( P < 0.01) folate and a reduced risk of CHD in offspring: odds ratio, 0.3 (95% confidence interval, 0.2-0.6). Conclusions The one-carbon-rich dietary pattern, characterised by the high intake of fish and seafood, is associated with a reduced risk of CHD. This finding warrants further investigation in a randomised intervention trial. [ABSTRACT FROM AUTHOR]

Congenital heart defects (CHDs) are the most common neonatal malformations and are a leading cause of infant death in developed countries. Finding safe and effective diagnostic methods to screen for CHDs is important. The aim of this study was to evaluate the effectiveness of pulse oximetry (PO) and perfusion index (PI) in screening CHD. We conducted a systematic review of studies in PubMed, Embase, and the Cochrane Library published on or before October 1, 2021. Studies based on PICOS were included in this systematic review. The flow chart is made by PRISMA software. The quality of included studies was assessed by RevMan5 software (QUADAS-2: Quality Assessment of Diagnostic Accuracy Studies-2). The sensitivity, specificity, and other measurements of accuracy were pooled using Stata/SE 12.0 software. Five studies containing 46,965 neonates were included in this study. A randomized-effects model was used for the meta-analysis because of significant heterogeneity. The combined sensitivity and specificity were 0.82 (95% confidence interval [CI], 0.53–0.95) and 0.97 (95% CI, 0.57–1.00), respectively. The area under the curve was 0.92 (95% CI, 0.89–0.94). The combination PO and PI was significant in CHD screening. Once diagnosed by the combined method, it means that the neonate is most likely to have a CHD. Key Points Pulse oximetry and PI screening. Congenital heart defects. A systematic review and meta-analysis. [ABSTRACT FROM AUTHOR]

Background: Transposition of the great arteries (TGA) is a common critical neonatal congenital heart defect. After birth, physiological shunts close rapidly, necessitating early treatment with prostaglandin infusion and balloon-atrial septostomy. Timing of delivery is challenging, balancing the risks and advantages of early-term delivery and specialized care. The aim of this study is to assess the safety of a full-term delivery policy in fetuses diagnosed with TGA. Methods: A retrospective chart review was conducted of 17 women with a prenatal diagnosis of fetal TGA at Virgen del Rocío University Hospital between 2015 and 2021. Primary outcomes included: incidence of preterm, early-term, full-term, and late-term delivery, and rate of cesarean section. Secondary outcomes included: Saturday to Sunday admission and birth, and delivery between 0:00 a.m. and 8:00 a.m. Results: Full-term birth was achieved in 94.1%, reaching a low cesarean delivery rate (17.6%). A total of 82.4% of infants were born on weekdays, and only in three of the cases (17.6%) did delivery occur between 0 a.m. and 8 a.m. The median birth weight was 3300 g. Intravenous prostaglandins were administered in all cases, and 94.1% required balloon-atrial septostomy. Conclusions: In our study favoring full-term delivery, we reduce early-term deliveries and the cesarean section rate in prenatally diagnosed TGA. [ABSTRACT FROM AUTHOR]

This paper reports a Swedish analysis of the possible effect of maternal occupation on the occurrence of congenital heart defects. The analysis included 3324 infants (1108 cases and 2216 controls) born during the period 1982-1986. Information on maternal occupation was retrieved using two sources: the 1985 census and the Medical Birth Registry. A comparison between these two sources using the information on mothers of 756 infants born in 1986 showed a good concordance although 11% of the women were reported with a different employment status. No association appeared between the type of maternal occupation and the occurrence of infant congenital heart defects although some odds ratios were slightly above 1. [ABSTRACT FROM AUTHOR]

Existing evidence supported that congenital heart defect (CHD) was associated with a combination of environmental and genetic factors. Based on this, this study aimed at assessing the association of maternal folic acid supplementation (FAS), genetic variations in offspring methylenetetrahydrofolate dehydrogenase (MTHFD)1 and MTHFD2 genes, and their interactions with CHD and its subtypes. A hospital-based case–control study, including 620 cases with CHD and 620 healthy children, was conducted. This study showed that the absence of FAS was significantly associated with an increased risk of total CHD and its subtypes, such as atrial septal defect (ASD). FAS during the first and second trimesters was associated with a significantly higher risk of CHD in offspring compared to FAS during the three months prior to conception. The polymorphisms of offspring MTHFD1 and MTHFD2 genes at rs2236222, rs11849530, and rs828858 were significantly associated with the risk of CHD. Additionally, a significantly positive interaction between maternal FAS and genetic variation at rs828858 was observed for the risk of CHD. These findings suggested that pregnant women should carefully consider the timing of FAS, and individuals with higher genetic risk may benefit from targeted folic acid supplementation as a preventive measure against CHD. [ABSTRACT FROM AUTHOR]

Background: Women with disabilities are less likely to receive reproductive health counseling than women without disabilities. Yet, little is known about reproductive health counseling and concerns among women with congenital heart defects (CHD) and disabilities. Methods: We used population-based survey data from 778 women aged 19 to 38 years with CHD to examine contraceptive and pregnancy counseling and pregnancy concerns and experiences by disability status, based on six validated questions on vision, hearing, mobility, cognition, self-care, and living independently. Multivariable Poisson regression was used to examine adjusted prevalence ratios between disability status and each outcome, adjusted for CHD severity, age, race/ethnicity, place of birth (Arkansas, Arizona, Georgia), and insurance type. Results: Women with disabilities (n = 323) were 1.4 and 2.3 times more likely than women without disabilities (n = 455) to receive clinician counseling on safe contraceptive methods and avoiding pregnancy because of their CHD. Women with CHD and disabilities, compared to those without disabilities, were more likely to be concerned about their ability to have children (aPR = 1.2) and to have delayed or avoided pregnancy (aPR = 2.2); they were less likely to have ever been pregnant (aPR = 0.7). Associations differed slightly across specific disability types. All associations remained after excluding 71 women with chromosomal anomalies. Conclusion: Among women with CHD, reproductive counseling, concerns, and experiences differ by disability status. [ABSTRACT FROM AUTHOR]

Congenital heart defects are the most common chronic congenital anomalies in childhood. They occur as a consequence of the action of genetic and multifactorial factors. Feasibility is present in both sexes, regardless of the economic situation of the country. They lead to structural and functional changes in the heart muscle, thus interfering with its normal functioning. The most effective method of treating and solving the problem of heart defects is surgery. By being exposed to an invasive procedure, they encounter numerous postoperative risks, and it is necessary to provide maximum care and support. The formation of a care team, the application of the health care process, ensures adequate conditions during the stay in the tertiary level health institution. This paper presents all the necessary segments of nursing care, in children with a diagnosis of congenital heart defect. The segments arise from the process of health care. Professional action is based on independent and interdependent nursing interventions. Key words: congenital heart defect, cardiac intensive care, nursing diagnoses of heart defects in children, postoperative care of heart defects.

The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach. [ABSTRACT FROM AUTHOR]

Background: Good oral health in children with congenital heart defect (CHD) is important. Aim: To assess oral health behavior during early childhood in children with CHD in comparison with children with no known systemic conditions and to explore parental oral health behavior associated with children's behavior. Design: Seventy of all 89 children born in Finland between April 1, 2017, and March 31, 2020, with (a) major CHD potentially included in the criteria of endocarditis prophylaxis or (b) any CHD with surgical repair combined with a chromosomal syndrome, and a comparison group of 87 children with no known systemic conditions were recruited. Thirty‐five children with CHD were randomized to usual care (no intensified counseling) and were compared with 87 matched comparison children by a parental questionnaire assessing child and parental oral health behavior at child age at 24 months. Results: Toothbrushing twice a day (p =.008) and the use of fluoride toothpaste twice a day (p =.059) were less common in children with CHD than in children in the comparison group. Nonwater drinks between meals was more common among children in the CHD group than in the comparison group (p =.015). Conclusion: Children with major CHD experience poorer oral health behavior in comparison with children with no known systemic conditions during early childhood. [ABSTRACT FROM AUTHOR]

While somatic variants of TRAF7 (Tumor necrosis factor receptor-associated factor 7) underlie anterior skull-base meningiomas, here we report the inherited mutations of TRAF7 that cause congenital heart defects. We show that TRAF7 mutants operate in a dominant manner, inhibiting protein function via heterodimerization with wild-type protein. Further, the shared genetics of the two disparate pathologies can be traced to the common origin of forebrain meninges and cardiac outflow tract from the TRAF7-expressing neural crest. Somatic and inherited mutations disrupt TRAF7–IFT57 interactions leading to cilia degradation. TRAF7-mutant meningioma primary cultures lack cilia, and TRAF7 knockdown causes cardiac, craniofacial, and ciliary defects in Xenopus and zebrafish, suggesting a mechanistic convergence for TRAF7-driven meningiomas and developmental heart defects. [ABSTRACT FROM AUTHOR]

The aim of this systematic literature review was to assess the data regarding neuromarkers used to evaluate the impact of cardiovascular surgery on neurodevelopmental pattern of children with congenital heart defects. A systematic search was performed on PubMed and Google Scholar databases. Out of 713 publications screened, 10 studies (471 patients) met the inclusion criteria. The included studies were coded on several variables: number and heterogeneity of patients (age, congenital heart defects), exclusion of patients with conditions that predispose to neurological impairment, neuroimaging workup pre- and post-surgery, neurodevelopmental assessment, interventions (part of a different study), and follow-up period. Results were reported according to PRISMA guidelines. Findings include: neuron-specific enolase and brain-derived neurotrophic factor are not reliable neuromarkers, for protein S100B different results were reported, for activin A there is lack of evidence, and glial fibrillary acidic protein could represent a reliable neuromarker for acute brain-injury. Directions for future research are discussed. [ABSTRACT FROM AUTHOR]

Objective: To find out the prevalence of different types of arrhythmias in children with congenital heart defects (CHDs) presenting at a tertiary care hospital. Study Design: Cross-sectional study. Setting: Department of Pediatrics, Rai Medical College Teaching Hospital, Sargodha Pakistan. Period: July 2021 to June 2022. Material & Methods: A total of 120 children of both genders aged 1 day to 16 years and presenting to study setting with confirmed CHDs were evaluated. At the time of enrollment, demographical information and disease history were noted. Necessary laboratory investigations like complete blood count and serum electrolytes were analyzed while standard electrocardiography (ECG) was performed. Prevalence of different types of arrhythmias was noted. Results: In a total of 120 children with CHDs, 64 (53.3%) were boys. Mean age was be 2.7±2.1. Most common electrolyte abnormalities were noted to be hyponatremia and hypermagnesemia found in 39 (32.5%) and 26 (21.7%) children respectively. There were 31 (25.8%) children who were diagnosed to have arrhythmias. Out of these 31 children, first degree A-V block was the most common types of arrhythmias observed in 24 (77.4%) cases while ectopic A-V rhythm were found in 3 (9.7%). Conclusion: The findings of this research revealed that arrhythmias are quite common among children having CHDs. There is a need to routine assessment for the possible presence of arrhythmias among children presenting with CHDs. [ABSTRACT FROM AUTHOR]

Objective: To analyze children of congenital heart defect hospitalized with lower respiratory tract infections (LRTIs). Study Design: Cohort study. Setting: Department of Pediatrics, Rai Medical College Teaching Hospital, Sargodha Pakistan. Period: July 2021 to June 2022. Material & Methods: Echocardiography confirmed known CHD cases of both genders aged 1 month to 10 years and hospitalized with LRTI were included. Demographic and clinical data were noted while relevant radiological examination and bacterial culture / respiratory virus panel from nasopharayngeal swabs examined. Types of CHD (acyanotic or cyanotic), types of bacterial causative agents and outcomes in terms of duration of hospitalization (days) and mortality or discharged were noted. Results: In a total of 63 children, 34 (54.0%) were male. The mean age was 1.56±1.42 years while 46 (73.0%) children were aged below 1 year. Assessment of causative agents revealed that 9 (14.3%) had viral involvement, 8 (12.7%) bacterial agents. Majority of the children, 44 (69.8%) had acyanotic CHD while remaining 19 (30.2%) had cyanotic CHD. Need for pediatric intensive care unit (PICU) admission was noted in 22 (34.9%). Although, need for PICU stay was more among children with acyanotic CHD when compared to cyanotic CHD, but the difference did not reach statistical significance (40.9% vs. 21.1%, p=0.1292). Likewise, duration of hospitalization was relatively more among children with acyanotic CHD when compared to children with cyanotic CHD but the difference did not reach statistical significance (17.65±8.21 vs. 14.3±6.84, p=0.1243). Conclusion: Majority of the children with CHD hospitalized with LRTI were below 1 year of age. Acyanotic CHD was the most common CHD type. Mortality was relatively low and most of the children with CHD hospitalized with LRTI were treated and discharged successfully. [ABSTRACT FROM AUTHOR]

Objective: Fetal heart-rate irregularities occur in 1-2% of pregnancies and are usually caused by premature atrial contractions (PAC). Although PAC are considered benign, they may be associated with cardiac defects and tachyarrhythmia. We aimed to determine the incidence of congenital heart defects (CHDs) and complications in fetuses with PAC.Methods: This was a systematic review and meta-analysis conducted in accordance with the PRISMA statement for reporting items for systematic reviews and meta-analyses. MEDLINE and EMBASE were searched from 1990 to June 2021 to identify studies on fetuses with PAC. The primary outcome was CHD; secondary outcomes were complications using the endpoints supraventricular tachyarrhythmia (SVT), cardiac failure and intrauterine fetal demise. Meta-analysis of proportions was performed, subdivided into high-risk and low-risk populations based on reason for referral. Pooled incidences with 95% CIs were calculated.Results: Of 2443 unique articles identified, 19 cohort studies including 2260 fetuses were included. The pooled incidence of CHD in fetuses with PAC was 2.8% (95% CI, 1.5-4.1%), when 0.6% is the incidence expected in the general population. The pooled incidence of CHD was 7.2% (95% CI, 3.5-10.9%) in the high-risk population and 0.9% (95% CI, 0.0-2.0%) in the low-risk population. SVT occurred in 1.4% (95% CI, 0.6-3.4%) of fetuses diagnosed with PAC. Cardiac failure was described in 16 fetuses (1.4% (95% CI, 0.5-3.5%)), of which eight were CHD-related. Intrauterine fetal demise occurred in four fetuses (0.9% (95% CI, 0.5-1.7%)) and was related to CHD in two cases.Conclusions: Our findings suggest that the risk of CHD in fetuses with PAC is 4-5 times higher than that in the general population. CHD was present more frequently in the high-risk population. Consequently, an advanced ultrasound examination to diagnose PAC correctly and exclude CHD is recommended. Complications of PAC are rare but can result in fetal demise, thus weekly fetal heart-rate monitoring remains advisable to enable early detection of SVT and to prevent cardiac failure. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]