Types Of Congenital Heart Defects Research Articles

Atrial septal defect (ASD), trans-catheter closure – case report

Atrial septal defect (ASD) is one of the most common types of congenital heart defects, occurring in about 25% of children. An atrial septal defect occurs when there is a failure to close the communication between the right and left atria. It encompasses defects involving both the true septal membrane and other defects that allow for communication between both atria. There are five types of atrial septal defects ranging from most frequent to least: patent foramen ovale, ostium secundum defect, ostium primum defect, sinus venosus defect, and coronary sinus defect. Small atrial septal defects usually spontaneously close in childhood. Large defects that do not close spontaneously may require percutaneous or surgical intervention to prevent further complications such as stroke, dysrhythmias, and pulmonary hypertension. This activity describes the evaluation, diagnosis, and management of atrial septal defect and highlights the role of team-based interprofessional care for affected patients. Atrial septal defects are frequently asymptomatic. The characteristic murmur is a soft, systolic ejection murmur over the pulmonic area (second intercostal space) combined with a wide, fixed splitting of S2. Many ASDs go undiagnosed until adulthood; therefore, treatment, especially of large defects, is often delayed. Untreated large defects can cause exercise intolerance, cardiac dysrhythmias, palpitations, increased incidence of pneumonia, pulmonary hypertension and increased mortality.

First trimester maternal infections and offspring congenital heart defects: a systematic review and meta-analysis

Abstract Background Maternal infections early in pregnancy have been proposed as playing a role in the development of congenital heart defects. We aimed to summarise contemporary evidence regarding the association between first-trimester maternal infection and risk of offspring congenital heart defects. Methods For this systematic review and meta-analysis, we searched Medline and Embase for studies reporting associations of at least one measure of maternal infection during pregnancy and offspring congenital heart disease in humans and published in English between January 1, 1990 and February 13, 2024. Studies were eligible for inclusion if they reported rates of offspring congenital heart defects among both infected and non-infected mothers, and included a minimum of 50 offspring with congenital heart defects. We stratified associations by type of infection and type of heart defect when data from at least two studies were available. We used inverse variance weighted random-effect meta-analyses to pool the estimates. In main analyses, we pooled crude estimates from studies reporting maternal infections during the first trimester of pregnancy. We performed sensitivity analyses to include studies that i) investigated infections later in pregnancy or at unspecified time-points, and ii) adjusted for potential confounders such as maternal age, socioeconomic status, or ethnicity. Findings: We identified 11 studies (7 case control studies, 4 cohort studies) with data from 1,805,115 pregnancies. Nine of these studies assessed maternal infectious status through self-reported questionnaires or medical records, two used laboratory antibody testing and three reported on specific infectious pathogens. Studies reported on various types of bacterial and viral infections, including influenza, urinary tract infections, cytomegalovirus, herpes simplex virus, or chlamydia, with varying effect sizes. Ten studies reported a positive association between maternal infection variables and offspring congenital heart defects, with a pooled odds ratio (OR) and 95% confidence interval of 1.56 (1.27, 1.91) across all types of infections. Associations differed by individual subtype of congenital heart defects, with ORs ranging from 1.28 (0.89, 1.85) for pulmonary atresia to 1.75 (1.23, 2.49) for ventricular septal defects. Sensitivity analyses that included infections measured later in pregnancy, or adjusted rates for potential confounders, showed broadly similar trends but attenuated effect sizes. Interpretation: First trimester maternal infections are associated with increased risk of congenital heart defects. Associations appear to vary by type of infection and type of congenital heart defect, and to extend beyond infections commonly tested for during routine pregnancy screening. Larger-scale studies are warranted to confirm these findings using laboratory antibody testing and investigating how these associations vary by specific pathogens and subtypes of congenital heart defects.

Variability in patient-reported outcomes among different congenital heart defects: a comparative analysis of 7,498 patients from 32 countries

Abstract Background Patient-reported outcomes (PROs) may not always correlate with the complexity of congenital heart defects (CHDs), as significant variation has been observed between CHDs within complexity levels. Accurate comparisons across various types of CHDs necessitate large sample sizes. Purpose The objective of this study was to compare PROs across different CHDs in a large international sample. Methods ‘Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease – International Study II’ (APPROACH-IS II) was an international cross-sectional investigation, in which 8,415 patients from 32 countries in 6 continents were enrolled (20 high; 7 upper-middle; 4 lower-middle; and 1 low income). For the comparison across different CHDs, conditions with at least 50 patients were included in the analysis. Hence, the sample consisted of 7,498 patients (median age=33y; 53.1% women). Patients completed questionnaires to measure perceived health status (RAND-12 Health Survey; EuroQOL-5D Visual Analog Scale); depressive symptoms (Patient Health Questionnaire-8); anxiety (General Anxiety Disorder-7) and quality of life (Linear Analog Scale). Generalized linear mixed models (GLMMs) were performed with center as random effect. Results Cyanotic heart defects were associated with the lowest scores for physical functioning, mental health, self-rated health, and quality of life (see Figure). Other CHDs found to be associated with poor PRO scores encompassed unrepaired secundum atrial septal defect, Ebstein anomaly, single ventricle, and truncus arteriosus. Conversely, the most favorable scores for all PROs, except for anxiety, were observed with isolated pulmonic stenosis. Other CHDs with favorable PRO scores comprised coarctation of the aorta, isolated small ventricular septal defect, congenital aortic valve disease, and repaired ventricular septal defect. Adjusted for sociodemographic and physiological factors, GLMMs revealed significant differences across defects, using the best score for each PRO as the reference (see Figure). Conclusion Substantial variation in PROs was observed among different types of CHDs. Interestingly, some complex heart defects demonstrated relatively good PRO scores, comparable to some simple defects. On the other hand, unrepaired simple defects or those with residual lesions, were associated with worse PROs.

Genome-wide association studies of Down syndrome associated congenital heart defects.

Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n=886: atrioventricular septal defects (AVSD), n=438; atrial septal defects (ASD), n=122; ventricular septal defects (VSD), n=170; other types of CHD, n=156) and DS with a structurally normal heart (DS+NH, n=572). We performed four GWAS for common variants (MAF>0.05) comparing DS with CHD, stratified by CHD-subtype, to DS+NH controls. Although no SNP achieved genome-wide significance, multiple loci in each analysis achieved suggestive significance (p<2×10-6). Of these, the 1p35.1 locus (near RBBP4) was specifically associated with ASD risk and the 5q35.2 locus (near MSX2) was associated with any type of CHD. Each of the suggestive loci contained one or more plausible candidate genes expressed in the developing heart. While no SNP replicated (p<2×10-6) in an independent cohort of DS+CHD (DS+CHD: n=229; DS+NH: n=197), most SNPs that were suggestive in our GWASs remained suggestive when meta-analyzed with the GWASs from the replication cohort. These results build on previous work to identify genetic modifiers of DS-associated CHD.

Population-Based Estimates of the Prevalence of Children With Congenital Heart Disease and Associated Comorbidities in the United States.

Congenital heart defects (CHD) are the most common birth defects and previous estimates report the disease affects 1% of births annually in the United States. To date, CHD prevalence estimates are inconsistent due to varied definitions, data reliant on birth registries, and are geographically limited. These data sources may not be representative of the total prevalence of the CHD population. It is therefore important to derive high-quality, population-based estimates of the prevalence of CHD to help care for this vulnerable population. We performed a descriptive, retrospective 8-year analysis using all-payer claims data from Colorado from 2012 to 2019. Children with CHD were identified by applying International Classification of Diseases-Ninth Revision (ICD-9) and International Classification of Diseases-Tenth Revision (ICD-10) diagnosis codes from the American Heart Association-American College of Cardiology harmonized cardiac codes. We included children with CHD <18 years of age who resided in Colorado, had a documented zip code, and had at least 1 health care claim. CHD type was categorized as simple, moderate, and severe disease. Association with comorbid conditions and genetic diagnoses were analyzed using χ2 test. We used direct standardization to calculate adjusted prevalence rates, controlling for age, sex, primary insurance provider, and urban-rural residence. We identified 1 566 328 children receiving care in Colorado from 2012 to 2019. Of those, 30 512 children had at least 1 CHD diagnosis, comprising 1.95% (95% CI, 1.93-1.97) of the pediatric population. Over half of the children with CHD also had at least 1 complex chronic condition. After direct standardization, the adjusted prevalence rates show a small increase in simple severity diagnoses across the study period (adjusted rate of 11.5 [2012]-14.4 [2019]; P<0.001). The current study is the first population-level analysis of pediatric CHD in the United States. Using administrative claims data, our study found a higher CHD prevalence and comorbidity burden compared with previous estimates.

Maternal exposure to ambient ozone and fetal congenital heart defects: a national multicenter study in China.

Ambient O3 has demonstrated an aggravated increasing trend in the context of global warming. The available evidence of maternal exposure to ambient O3 on fetal congenital heart defects (CHD) is still limited, especially in high polluted areas. To examine associations of maternal exposure to ambient O3 during early pregnancy with fetal CHDs. We conducted a national multicenter study in 1313 hospitals from 26 provinces in China and collected a total of 27,817 participants athigh risk of CHD from 2013 to 2021. Exposure to ambient O3 during the embryonic period, preconception, the first trimester and periconception was assessed by extracting daily concentrations from a validated grid dataset at each subject's residential district. CHDs were diagnosed based on fetal echocardiography. Each 10 µg/m3 increase of exposure to ambient O3 during the embryonic period was approximately linearly associated with a 12.7% (odds ratio [OR]: 1.127, 95% confidence interval [CI]: 1.098, 1.155) increase in odds of pooled CHD (p < 0.001). The associations remain robust after adjusting for ambient PM2.5 and NO2 exposure. The odds of different types of CHD in association with ambient O3 exposure varied greatly. We observed significant association of ambient O3 exposure with ventricular septal defect (VSD), tetralogy of Fallot (TOF); pulmonary stenosis (PS), pulmonary atresia (PA), transposition of great arteries (TGA) and persistent left superior vena cava (PLSVC), with TOF demonstrating the strongest estimates (OR: 1.194, 95% CI:1.107, 1.288). The estimates for preconception, the first trimester and periconception demonstrate consistent findings with the main analyses, indicating stronger associations of ambient O3 exposure during the periconception period. Our study provides evidence that higher ambient O3 during early pregnancy was significantly associated with increased odds of fetal CHD. Our findings suggest that pregnant women, clinical practitioners, and policy makers need to pay more attention to the exposure to higher ambient O3 during early pregnancy to reduce the risk of developing CHD and to improve outcomes across the life span.

Incidence and Antenatal Detection of Congenital Heart Malformations-Data from a Tertiary Obstetric Romanian Center.

Congenital heart defects (CHDs) are among the most frequent congenital defects, and they significantly burden the healthcare system due to their high mortality rate and high cost of care for survivors. We aimed to highlight the incidence of CHDs in a tertiary center in Western Romania. A retrospective study was carried out between 2018 and 2022 at the "Pius Brinzeu" Emergency County Hospital Timisoara. Relevant information about the mothers and the newborns were collected and statistically analyzed. The incidence of CHDs from 2018 to 2022 in our center was 5.3%. Eleven types of malformations were diagnosed postnatally in 541 newborns, with 28.8% of cases having more than one type of CHD. The antenatal detection rate was 28%, with the highest rates for tetralogy of Fallot, hypoplastic left heart syndrome, or significant ventricular septal defects and the lowest for pulmonary stenosis. The lower antenatal detection rate was influenced mainly by incomplete or absent prenatal care. The incidence of CHDs is clearly dependent of a multifactorial approach, and the results highlight this. With an incidence almost 50% lower than reported within the literature and a low rate of prenatal detections, CHDs could be a more of a burden to endure regarding medical treatment. Improvements in patients' education, prenatal care, and screening programs could improve diagnosis, decrease mortality, and optimize postnatal care.

Prognostic value of cardiopulmonary exercise test in children with congenital heart defects

BackgroundCardiopulmonary exercise testing (CPET) has an important prognostic value in adults with different congenital heart defects (CHDs) and is a useful tool for risk stratification and clinical decision-making. In this...

P-772 Assisted reproductive technology and the risk of minor congenital heart defects in the newborn

Abstract Study question Are children conceived through assisted reproductive technology (ART) at higher risk of minor congenital heart defects (CHD) compared with naturally conceived (NC) children? Summary answer Contrary to previous studies children conceived through ART had similar risk of minor CHDs compared with children conceived naturally. What is known already Congenital heart defects (CHD) may precipitate cardiac arrhythmias, lead to thromboembolic events, culminate in heart failure or even sudden cardiac demise. A systematic review and meta-analysis showed an elevated odds ratio (OR) for diagnosis of any CHD among children conceived through in-vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) compared with NC children. Other studies indicate that ART is associated with an increased arterial blood pressure and vascular dysfunction in the pulmonary and systemic arterial vasculature. This association persists throughout childhood, adolescence, and early adulthood in individuals conceived through ART; this indicates a lasting impact on the cardiovascular circulatory system. Study design, size, duration The present study is a sub-study to the Copenhagen Baby Heart Study (CBHS), a prospective population-based cohort study of &amp;gt; 25 000 children born in the three main maternity wards in Copenhagen, Denmark, in 2016–2018. Transthoracic echocardiography (TTE) was performed on all children within 60 days of delivery and diagnosis of CHD was reviewed by a specialist in paediatric cardiology. Information regarding parental health, pregnancy, delivery, and the newborn was collected through Danish patient registries. Participants/materials, setting, methods This study includes all children conceived by ART in the CBHS (n = 1 784), and a matched group (1:4 by maternal age at birth) of NC children (n = 7 141). Exclusion criteria were genetic or chromosomal syndromes and heart surgery. Minor CHD was defined as an atrial (ASD) or ventricular septum defects (VSD), bicuspid aortic valve, coarctation of the aorta, pulmonary stenosis, or patent ductus arteriosus. We calculated ORs using logistic regression analyses. Main results and the role of chance The mean maternal age at birth was 34.9 (standard deviation [SD] ±4.4) and 35.1 years (SD ± 4.6) and the newborn mean age at TTE was 12.1 (SD ± 9.3) and 12.2 days (SD ± 9.4) in the ART and NC population, respectively. Parental CHD was registered in 40 (2.2 %) children in the ART group and 121 (1.7 %) in the NC group. Overall, 165 (9.2%) children conceived by ART and 611 (8.6%) NC children were diagnosed with a minor CHD. The most prevalent CHDs were VSD and ASD which accounted for 38.8 % and 35.2 % in children with CHD in the ART group, respectively, and 36.8 % and 33.9 % in children with CHD in the NC group. The unadjusted OR for minor CHD was 1.09 (95% CI 0.91–1.30). Adjustments for maternal age and parental CHD did not change the OR. There were no differences in ORs when stratifying by minor CHD type. We stratified by the method of ART: ICSI and IVF and frozen embryo transfer and fresh embryo transfer, and calculated risk of minor CHD comparing the methods and with NC children. We found no difference in any ORs, crude or adjusted. Limitations, reasons for caution Children born preterm, and children with severe minor and major CHDs, were underrepresented in the cohort indicating parents of such children chose not to participate in a research project that would include another hospital visit. Residual confounding is plausible because parental CHD diagnoses were retrieved from patient registries. Wider implications of the findings The number of children conceived through ART is increasing each year and previous research have found an increased risk of CHD in children conceived through ART. Our findings indicate no increased risk of minor CHD, providing comforting and significant information for advising individuals considering or undergoing ART treatment. Trial registration number NCT02753348

Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.

Left-right laterality disorders are a heterogeneous group of disorders caused by an altered position or orientation of the thoracic and intra-abdominal organs and vasculature across the left-right axis. They mainly include situs inversus and heterotaxy. Those disorders are complicated by cardiovascular abnormalities significantly more frequently than situs solitus. In this study, 16 patients with a fetal diagnosis of laterality disorder with congenital heart defects (CHD) were evaluated with a single nucleotide polymorphism array(SNP-arry) combined with whole-exome sequencing (WES). Although the diagnostic rate of copynumber variations was 0 and the diagnostic rate of WES was 6.3% (1/16), the likely pathogenic gene DNAH11 and the candidate gene OFD1 were ultimately identified. In addition, novel compound heterozygous mutations in the DNAH11 gene and novel hemizygous variants in the OFD1 gene were found. Among the combined CHD, a single atrium/single ventricle had the highest incidence (50%, 8/16), followed by atrioventricular septal defects (37.5%, 6/16). Notably, two rare cases of common pulmonary vein atresia (CPVA) were also found on autopsy. This study identified the types of CHD with a high incidence in patients with laterality disorders. It is clear that WES is an effective tool for diagnosing laterality disorders and can play an important role in future research.

Genomic and bioinformatics analysis of nucleotide changes in the coding regions of the CCDC103 gene in patients with Tetralogy of Fallot (TOF): A type of Congenital Heart Defects

Genomic and bioinformatics analysis of nucleotide changes in the coding regions of the CCDC103 gene in patients with Tetralogy of Fallot (TOF): A type of Congenital Heart Defects

Stages of motor development in children with cyanotic congenital heart defects after surgical treatment

Background. The article deals with the actual problem of pediatric neurology, pediatric cardiology, and pediatric cardiac surgery, in particular, the peculiarities of neurodevelopment in children with congenital heart defects (CHD). The purpose is to conduct a study of stages of stato-motor development (SMD) in patients with cyanotic congenital heart defects after surgical treatment and to determine the influence of pathogenic factors on neurodevelopmental delay. Materials and methods. Thirty-five patients with cyanotic CHD underwent examination and surgical treatment at the Center for Pediatric Cardiology and Cardiac Surgery of the Ministry of Health of Ukraine: 20 children — with transposition of the great vessels (TGV) and 15 children — with tetralogy of Fallot (TOF). The control group consisted of 35 healthy patients whose motor development corresponded to their age. Gestational age, body weight at birth, Apgar score, saturation, and duration of artificial blood circulation during surgical treatment for CHD were considered. Assessment of motor development was carried out with the help of the following scales: Munich Functional Developmental Diagnosis (G.J. Köhler, H.D. Egelkraut) and section 2 of the Hammersmith Infant Neurological Examination. Data were processed using the software Microsoft Excel version 16.0.12527.21236. Results. The gestational age of the studied group of patients with cyanotic CHD was 38 weeks, body weight — 3,500 g, which corresponded to the control group. Patients of the first subgroup with TGV were diagnosed with lower saturation indicators (р = 0.0001), a lower 1-minute Apgar score (p = 0.028) and a longer duration of artificial blood circulation — 146.00 ± 29.03 (р = 0.043) compared to the second subgroup with TOF. SMD delay was diagnosed in 29 % of cases, namely 12 % with TGV and 17 % with TOF. The average period of sitting with delayed SMD was 8.4 ± 2.2 months (p = 0.002), walking — 18.4 ± 6.3 months (p = 0.0001). Subsequently, children with TGV continue to develop without a significant delay compared to the TOF subgroup. Conclusions. 1. Patients with cyanotic CHD are born at 38 weeks of gestation, with sufficient body weight without a significant difference depending on the type of CHD and compared to the control group of healthy children. The predominance of the male gender is typical in cyanotic CHD. However, children with transposition of the great vessels are characterized by a lower 1-minute Apgar score and lower indicators of saturation at birth compared to those with tetralogy of Fallot. 2. Based on the conducted study, a delay of SMD was found in 29 % of patients with cyanotic CHD, namely 17 % with TOF and 12 % with TGV. The average duration of sitting with delay was 8.4 ± 2.2 months and walking was 18.4 ± 6.3 months. 3. Surgical treatment was carried out according to the detected indications, for transposition of the great vessels on the first day and for tetralogy of Fallot at 8 months of life. No pathogenic influence of the duration of artificial blood circulation and aortic clamping during cardiosurgical treatment on SMD in children was found. An increase in the duration of artificial blood circulation was noted during arterial switch operation in children with TGV, but no significant difference was found in children with SMD delay. 4. Timely early surgical treatment of critical CHD — TGV on the first day after birth, a developed route for pregnant women, techniques of performing operations — ensure a better SMD of this subgroup in the future. In patients with TOF, taking into account the long period of hypoxia before the start of surgical correction, neuropsychiatric disorders of varying degrees are more often noted. The development of an individual rehabilitation program is provided for this category of children.

The Prevalence of Congenital Heart Diseases and Associated Risk Factors among Neonates Admitted to the NICU of Shahid Sadoughi Hospital, Yazd, Iran from 2022 to 2023: A Cross-Sectional Study

Background: Congenital heart defects (CHDs) are among the most prevalent congenital defects observed in neonates, leading to structural and functional abnormalities in the heart. This research examines the prevalence of CHDs and its various subcategories among neonates admitted at Shahid Sadoughi Hospital in Yazd, Iran, from 2022 to 2023. The study also aims to assess the presence of risk factors among infants diagnosed with CHDs. Methods: This is a descriptive cross-sectional study, encompassing all neonates diagnosed with CHDs. Echocardiography was conducted to classify the specific type of CHDs, and a questionnaire was administered to the parents of neonates with CHDs to identify potential risk factors. Results: Out of 1149 newborns admitted to the hospital in one year, 29 (2.52%) were diagnosed with CHDs, and 9 of them died from the condition. The prevalence of CHDs and the mortality rate were 2.5% and 0.78%, respectively. The most common defect was atrial septal defect (ASD), affecting 19 newborns (65.5% of cases), and 15 newborns exhibited multiple defects within the subtypes of CHDs. Conclusion: Our research reveals that the incidence of CHDs among newborns in our area was 2.52%, with a mortality rate of 0.78% within a one-year timeframe. More than half of CHD cases were found in offspring of consanguineous unions, suggesting a potential risk factor within the Yazd community, likely linked to the prevalent custom of consanguineous marriages in the region.

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the KMT2D gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic KMT2D variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype-phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with KMT2D mutations are left-sided obstructive lesions and septal defects.

Prevalence of Congenital Heart Disease Among Preterm Newborns Between 28 and 35 Weeks Admitted at Al Bayda Medical Center, Libya (2021)

Congenital heart diseases (CHDs) are defined as structural abnormalities of the heart. CHD can be simple (isolated lesions) or complex (multiple lesions). Premature infant (newborn delivered before 37 weeks of geospatial age). This study was carried out to determine the prevalence of CHD among very preterm to moderate premature newborns and to investigate associated risk and mortality. A prospective cohort study was designed with concurrent timing of data collection and was carried out in the Department of the Neonatal Intensive Care Unit (NICU) at Al Bayda Medical Center (2021), Gestational age was calculated as postnatal assessment by the Dubowitz/Ballard method. Echocardiography was done to identify the presence and types of congenital heart defects. Out of 60 admitted preterm infants, 43 were found to have congenital heart disease. The prevalence rate was (71.67%) of admissions. Out of the total defects, Echocardiographic findings showed that atrial septal defect (ASD) was the most common structural defect no=30 (69.77%), (Patent ductus arteriosus) PDA no=12 (27.91%), and ventricular septal defect (VSD) no=10 (23.26%). Of the studied premature infants, 9 patients died during the study period. The case fatality rate (CFR) was (15%). Death rates were higher for premature neonates with CHD 7 (16.3%) than those with normal hearts, which were 2 (11.8%), but the observed difference was statistically not significant. Congenital heart anomalies are not significantly associated with birth weight and gender or maternal age, consanguinity, maternal socioeconomic state, and maternal illness. Conclusion: CHD was found to be high among preterm. The most common heart defect was ASD, followed by PDA and VSD.

Biomarkers and predictors of postoperative necrotizing enterocolitis in neonates with duct-dependent congenital heart defects undergoing cardiac surgery: a cohort study

The development of necrotizing enterocolitis (NEC) in neonates with duct-dependent congenital heart defects (CHD) who underwent cardiac surgery is accompanied by high mortality. Analysis of predictors is necessary for understanding the pathophysiology of NEC and development of approaches for prevention to achieve favorable outcomes of cardiac surgery. The purpose of the study was to develop a prognostic model for predicting the development of NEC after cardiac surgery in neonates with duct-dependent CHD. Methods. A prognostic cohort study was performed that included full-term neonates with duct-dependent CHD who underwent cardiac surgery at the Almazov National Medical Research Center from January 2021 to September 2023. The outcome was the development/absence of stage IB-III NEC in the postoperative period. Biomarkers of NEC (intestinal fatty acid binding protein (i-FABP, ng/ml), claudin-3 (CLDN3, ng/ml), calprotectin (CALPR, ng/ml), ischemia modified albumin (IMA, ng/ml), vascular endothelial growth factor A (VEGF A, pg/ml)) were measured by ELISA in the blood serum before cardiac surgery and 12-14 hours after surgery. We also analyzed clinical characteristics of neonates, C-reactive protein levels, complete blood count, abdominal ultrasound, ejection fraction (EF, Teicholtz) in the preoperative and postoperative periods, surgical parameters, P(v-a)CO2/C(a-v)O2 upon arrival from the operating room, vasoactive inotropic score (VIS) and arterial blood lactate levels in the first 24 hours after surgery. The association between predictors and the development of NEC after cardiac surgery was assessed using univariate and multivariate logistic regression analysis. Internal validation of the model was performed using 10-fold cross-validation. Results. During the observation period, 187 neonates underwent surgical treatment of duct-dependent CHD, of which 32 children developed stage IB-III NEC in the postoperative period (17.1%), two neonates required surgical treatment of NEC (6.3%). After meeting the non-inclusion and exclusion criteria, two groups of patients were formed: a main group (30 neonates who developed stages IB-III NEC in the postoperative period, of which stage III NEC was in one neonate) and a comparison group (40 neonates without NEC). Groups were comparable by types of CHD. Predictors associated with NEC (univariate analysis): intrauterine growth retardation (IUGR), formula feeding before surgery, high levels of IMA before on the first postoperative day (POD), procedures performed before surgery (Rashkind procedure/valvuloplasty/stenting), lower EF in in the early postoperative period, a higher maximum level of VIS in the first 24 hours after surgery, as well as a higher level of IR in the superior mesenteric artery (SMA) and thickening of the intestinal wall on the first postoperative day (POD) Independent preoperative predictors of NEC (AUC of model 0.885, specificity 0.867): IUGR (OR 32.2 (1.4-730.3), p=0.029), formula feeding (OR 12.6 (2.6-60.2), p=0.002), IMA level before surgery (OR 1.03 (1.01-1.04), p=0.004), CLDN3 level before surgery (OR 0.5 (0.3-0.9), p=0.013). Independent early postoperative predictors of NEC: IMA level on 12-14 hour after surgery (OR 1.02 (1.01-1.03), p=0.030), P(v-a)CO2/C(a-v)O2 immediately after surgery (OR 2.3 (1.2-4.4), p=0.008), IR&gt;0.93 in SMA (OR 7.2 (1.6-32.4), p=0.011) and thickness of intestinal wall by ultrasound on POD 1 (OR 4.9 (1.3-19.2), p=0.021). Adding of VEGF A level (12-14 hour after surgery, negatively associated with NEC) to the model increased the specificity, but the predictor was not significant. AUC of postoperative model 0.862, specificity 0.800. The final model included preoperative (IUGR, formula feeding) and postoperative predictors (IMA, P(v-a)CO2/C(a-v)O2, IR of SMA&gt;0.93, intestinal wall thickness), AUC=0.921, specificity 0.83. Conclusion. The identified predictors indirectly indicate the role of hypoxia in the pathophysiology of NEC in term neonates with duct-dependent CHD. Breast milk feeding/mixed feeding in the preoperative period may help reduce the risk of NEC in the postoperative period. Low levels of CLDN3 before surgery were associated with the development of NEC, but the interpretation of the result is controversial.

Risk factors for isolated atrial septal defect secundum morbidity

Atrial septal defect secundum is a common type of congenital heart defect and even more common among children born premature. The aim of this study was to assess premature birth as a potential associated risk factors for cardiac morbidity in children with isolated ASD II. In this retrospective national registry-based case–control study all children born in Sweden between 2010 and 2015 with an isolated ASD II diagnosis were included. Association between premature birth and cardiac morbidity in children with isolated ASD II was assessed by different outcomes-models using conditional logistic regression and adjustments were made for confounding factors. Overall, 11% of children with an isolated ASD II received treatment for heart failure. Down syndrome was the only independent risk factors for associated with cardiac morbidity in children with ASD II (OR = 2.25 (95%CI 1.25–4.07). Preterm birth in children was not associated with an increased risk of ASD II cardiac morbidity.

Clinical characteristics of congenital heart defects in mild congenital anorectal malformation: single-centre experience

ObjectiveTo analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and rectovestibular fistulas.MethodsThe retrospective study of 183 patients with mild CARM was conducted with assessments of demographic information, color Doppler echocardiography results, and follow-up data. We performed an analysis of the clinical characteristics of CHD, grouping them based on sex and type of mild CARM.ResultsOf the 183 patients, rectoperineal fistula occurred in 133 patients (72.7%), while the frequency of CHD was 79.8% (146/183). Ventricular septal defects (VSDs) occur more frequently in patients with rectoperineal fistula compared to those with rectovestibular fistula (1.5% vs. 10%), while the opposite trend was observed for patent ductus arteriosus (PDAs) (39.8% vs. 22.0%). Additionally, males presented higher frequency of PDA (42.7% vs. 26.4%) and self-healing (6 months: 87.2% vs. 42.6%; 12 months: 91.0% vs. 63.2%) than females. However, males had a lower rate of undergoing cardiac surgery (6.4% vs. 17.6%) and a younger median diagnosis age (1 day vs. 9 days).ConclusionOur study indicates that there is a necessity for meticulous cardiac assessment and follow-up in neonates diagnosed with mild CARM.

Maternal Diabetes and Overweight and Congenital Heart Defects in Offspring

Maternal diabetes and overweight or obesity are known to be associated with increased risk of congenital heart defects (CHDs) in offspring, but there are no large studies analyzing outcomes associated with these factors in 1 model. To investigate the association of maternal diabetes and overweight or obesity with CHDs among offspring in 1 model. This nationwide, population-based register study was conducted in a birth cohort from Finland consisting of all children born between 2006 and 2016 (620 751 individuals) and their mothers. Data were analyzed from January 2022 until November 2023. Maternal prepregnancy body mass index (BMI; calculated as weight in kilograms divided by height in meters squared), categorized as underweight (<18.5), normal (18.5-24.9), overweight (25.0-29.9), and obesity (≥30), was assessed. Maternal diabetes status, classified as no diabetes, type 1 diabetes (T1D), type 2 or other diabetes, and gestational diabetes, was assessed. Odds ratios (ORs) of isolated CHDs in children were found. In addition, 9 anatomical CHD subgroups were studied. Of 620 751 children (316 802 males [51.0%]; 573 259 mothers aged 20-40 years [92.3%]) born in Finland during the study period, 10 254 children (1.7%) had an isolated CHD. Maternal T1D was associated with increased odds of having a child with any CHD (OR, 3.77 [95% CI, 3.26-4.36]) and 6 of 9 CHD subgroups (OR range, 3.28 [95% CI, 1.55-6.95] for other septal defects to 7.39 [95% CI, 3.00-18.21] for transposition of great arteries) compared with no maternal diabetes. Maternal overweight was associated with left ventricular outflow tract obstruction (OR, 1.28 [95% CI, 1.10-1.49]) and ventricular septal defects (OR, 0.92 [95% CI, 0.86-0.98]), and obesity was associated with complex defects (OR, 2.70 [95% CI, 1.14-6.43]) and right outflow tract obstruction (OR, 1.31 [95% CI, 1.09-1.58]) compared with normal maternal BMI. This study found that maternal T1D was associated with increased risk for most types of CHD in offspring, while obesity and overweight were associated with increased risk for complex defects and outflow tract obstruction and decreased risk for ventricular septal defects. These different risk profiles of T1D and overweight and obesity may suggest distinct underlying teratogenic mechanisms.

COMPARATIVE ANALYSIS OF RECEPTIVE AND EXPRESSIVE LANGUAGE INDICATORS IN PRIMARY SCHOOLCHILDREN WITH SEPTAL CONGENITAL HEART DEFECTS

Highlights In recent years, congenital heart defects (CHD) have remained the most prevalent diseases in young children. Opinions on the health of children who have undergone cardiac surgery vary: for example, there are data in the literature indicating that speech disorders following cardiac surgery are present in 56% of cases, whereas cognitive disorders are present in 21% of cases. Aim. To study the level of development of receptive and expressive language in primary schoolchildren with septal congenital heart defects before surgical correction. Methods. The prospective study of children (n = 90) with septal congenital heart defects (atrium septal defect, n = 75; ventricle septal defect n = 15) before surgical correction was conducted at the Scientific Research Institute of Complex Issues of Cardiovascular Diseases (Kemerovo). The anamnesis, clinical symptoms, hemodynamics and the level of speech development (receptive and expressive language) were studied.Results. In children with septal heart defects, speech disorders were noted in 82% of cases: 56% of children had common speech disorders, 26% had delayed speech development. Expressive language skills of these children can be often characterized by delayed development, which manifests in the form of articulation disorder, difficulties with grammar syntax and morphology, and pronunciation disorders. There were no statistically significant differences between the level of expressive language and the type of CHD (p = 0.125).Conclusion. Even in the absence of intracardiac hemodynamic disorders in children with septal CHD, detected neurodevelopmental delays at the preoperative period necessitates the implementation of the interdisciplinary approach in the management of children with such pathology.