Incidence Of Congenital Heart Defects Research Articles

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.

Fetal premature atrial contractions: natural course, risk factors and adverse outcome.

Fetal premature atrial contractions (PAC) are usually benign but may be associated with congenital heart defect (CHD) and tachyarrhythmia, which in turn carry a risk of cardiac failure and fetal death. We aimed to explore the frequency of adverse outcome and to identify risk factors for tachyarrhythmia in pregnancies complicated by fetal PAC. This was a retrospective cohort study of fetuses diagnosed with PAC at two academic centers in Amsterdam, The Netherlands, between 2007 and 2022. Cases with a congenital anomaly and those with a prior diagnosis of CHD or other arrhythmias were excluded. M-mode and Doppler tracings were reanalyzed and the frequency of PAC was recorded. The incidence of the following adverse outcomes was examined: underlying CHD not identified at the 20-week fetal anomaly scan, tachyarrhythmia, other arrhythmia, administration of antiarrhythmic therapy and death. Risk factors for tachyarrhythmia were analyzed using odds ratios (OR). In 24.1% of 1439 referred cases, PAC resolved before confirmation at the fetal medicine unit (FMU). Of the 939 included cases with confirmed PAC, the total incidence of adverse outcome was 6.8% (64/939). CHD was diagnosed in 14 (1.5% (95% CI, 0.9-2.5%)) cases, of which eight were diagnosed prenatally and six postnatally. Compared with baseline, the incidence of CHD was higher in the presence of fetal PAC (OR, 1.8 (95% CI, 1.0-3.3); P = 0.034). Tachyarrhythmia occurred prenatally and/or postnatally in 32 (3.4%) cases, of which eight (25.0%) showed signs of cardiac failure, and in 23 (71.9%) cases, antiarrhythmic therapy was required. No cases of tachyarrhythmia led to fetal or infant death. Risk factors for tachyarrhythmia were PAC with short runs of supraventricular tachycardia (OR, 98.7), blocked PAC (OR, 30.3), PAC in bigeminy (OR, 21.8), frequent PAC (one per 5-10 beats) (OR, 6.9), signs of cardiac failure (OR, 14.2) and the presence of a foramen ovale aneurysm (OR, 5.0). PAC are generally benign and often resolve spontaneously. However, fetuses with an irregular heart rhythm should be referred for advanced ultrasonography, which should focus on classifying the type of PAC and risk of adverse outcome. When risk factors for tachyarrhythmia are identified, weekly fetal heart-rate monitoring is advised until resolution of the PAC. In the absence of risk factors, standard obstetric care may be sufficient, with additional instructions to report reduced fetal movements. Should tachyarrhythmia or cardiac failure develop, referral back to the FMU is indicated. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Epidemiology of congenital heart defects in France from 2013 to 2022 using the PMSI-MCO (French Medical Information System Program in Medicine, Surgery, and Obstetrics) database.

Congenital heart defects are common and occur in approximately 0.9% of births. In France, the registries cover approximately 20% of the population but not the entirety of France; therefore, we aimed to update the incidence data for congenital heart defects in France from 2013 to 2022 using the medico-administrative database PMSI-MCO (French Medical Information System Program in Medicine, Surgery, and Obstetrics). We aimed to compare the frequency of risk factors in a population with congenital heart defects and a reference population. From 2013 to 2022, we included children aged < 3 years diagnosed with congenital heart defects according to the International Classification of Diseases, 10th Revision, in the PMSI-MCO database. We compared them with a population without congenital defects on several medical data items (e.g., parity, gemellarity, and mortality rate). Bivariate and multivariate analyses compared children with congenital heart defects and children without congenital malformation. We identified 83,879 children with congenital heart defects in France from 2013 to 2022 in the PMSI-MCO database and 7,739,840 children without such defects, including 7,218,952 without any congenital defects. We observed more deaths (7.49% vs. 0.68%, d = 0.59) and more twinning (8.67% vs. 1.23%, d = 0.35) among children with congenital heart defects. Multivariate analysis revealed an increased risk of congenital heart defects in male individuals (OR [odds ratio] 1.056, 95% CI [confidence interval] [1.039-1.076]) and cases of medically assisted reproduction (OR 1.115, 95% CI [1.045-1.189]) and a reduced risk in the case of multiparity (OR 0.921, 95% CI [0.905-0.938]). According to the PMSI-MCO database, the incidence of congenital heart defects in France from 2013 to 2022 is 1% of births. Congenital heart defects are more frequent in cases of prematurity, twinning, primiparity, male sex, and maternal age > 40 years.

Correlation between essential and toxic elements in maternal blood during early pregnancy and atrial septal defects/ventricular septal defects/patent ductus arteriosus in offspring.

Congenital heart defects (CHDs) are the most common congenital malformation in the world. Recent studies have found that essential and toxic trace element levels may play a crucial role in the risk of neonatal malformation. However, the relationships between element levels in early pregnancy and CHD risk among humans remain unclear. This study investigates the association between maternal essential element (copper [Cu], zinc [Zn], calcium [Ca], manganese [Mg] and iron [Fe]) and toxic element (lead [Pb] and cadmium [Cd]) levels during early pregnancy and CHDs. A hospital-based case-control study was conducted, including 181 cases and 218 controls. Eligible participants underwent antenatal examination during gestational weeks 11-14 and trace element levels were detected by the atomic absorption method. Multi-variable logistic regression was used to examine the associations between the level of maternal trace elements and CHD risks. Higher levels of Ca in early pregnancy were associated with lower risk of ASD/VSD risks. Moreover, higher Fe, Pb, and Cd levels in the first trimester were associated with higher risks of all CHD and the subtypes risks, and the tests for trend were significant (all p < .05). The restricted cubic spline analysis showed that there was a nonlinear inverted u-shaped dose-response relationship between levels of Zn, Pb, and Cd in the first trimester and risk of CHDs (non-linearity test p < .05). A moderate increase in Zn and Ca levels and a decrease in Pb and Cd levels during early pregnancy are needed to reduce the incidence of CHDs in the Chinese population.

Trisomy 21 Alters Cell Proliferation and Migration of iPSC-Derived Cardiomyocytes on Type VI Collagen.

Individuals with Down syndrome (DS) are 2000 times more likely to develop a congenital heart defect (CHD) than the typical population Freeman et al. in Am J Med Genet 80:213-217 (1998). The majority of CHDs in individuals with DS characteristically involve the atrioventricular (AV) canal, including the valves and the atrial or ventricular septum. Type VI collagen (COLVI) is the primary structural component in the developing septa and endocardial cushions, with two of the three genes encoding for COLVI located on human chromosome 21 and upregulated in Down syndrome (von Kaisenberg et al. in Obstet Gynecol 91:319-323, 1998; Gittenberger-De Groot et al. in Anatom Rec Part A 275:1109-1116, 2023). To investigate the effect of COLVI dosage on cardiomyocytes with trisomy 21, induced pluripotent stem cells (iPSC) from individuals with DS and age- and sex-matched controls were differentiated into cardiomyocytes (iPSC-CM) and plated on varying concentrations of COLVI. Real time quantitative PCR showed decreased expression of cardiac-specific genes of DS iPSC-CM lines compared to control iPSC-CM. As expected, DS iPSC-CM had increased expression of genes on chromosome 21, including COL6A1, COL6A2, as well as genes not located on chromosome 21, namely COL6A3, HAS2 and HYAL2. We found that higher concentrations of COLVI result in decreased proliferation and migration of DS iPSC-CM, but not control iPSC-CM. These results suggest that the increased expression of COLVI in DS may result in lower migration-driven elongation of endocardial cushions stemming from lower cell proliferation and migration, possibly contributing to the high incidence of CHD in the DS population. The online version contains supplementary material available at 10.1007/s12195-023-00791-x.

Editorial: Congenital Heart Defects in Pakistan: Addressing Challenges and Enhancing Care

Introduction:&#x0D; Congenital heart defects (CHDs) are a significant health concern worldwide, affecting millions of infants each year. In Pakistan, the prevalence of CHDs is alarmingly high, posing a considerable burden on the healthcare system and placing numerous families in distress. This editorial aims to shed light on the challenges associated with CHDs in Pakistan and highlight the need for improved strategies and resources to enhance the care and outcomes for affected individuals.&#x0D; &#x0D; High Prevalence:&#x0D; Pakistan witnesses a high incidence of CHDs, with estimates suggesting that around 50,000 children are born with these defects every year [1]. The exact causes for this high prevalence are not yet fully understood, but factors such as consanguineous marriages, maternal malnutrition, exposure to environmental toxins, and limited access to prenatal care may contribute to the increased occurrence [2].&#x0D; &#x0D; Challenges Faced:&#x0D; Several challenges impede the effective management of CHDs in Pakistan. Limited awareness among the general population, particularly in rural areas, hampers early detection and timely intervention. Late diagnosis often leads to complications and reduced chances of successful treatment. Moreover, the shortage of specialized pediatric cardiac centers and trained healthcare professionals further exacerbates the problem [3].&#x0D; &#x0D; Inadequate Infrastructure:&#x0D; Pakistan faces a scarcity of dedicated pediatric cardiac centers equipped with the necessary technology and facilities to diagnose and treat CHDs effectively. The existing infrastructure is insufficient to cater to the overwhelming demand, resulting in long waiting times and delayed interventions. Investment in establishing more centers with state-of-the-art equipment and skilled medical staff is essential to ensure timely and accessible care for affected children throughout the country.&#x0D; Financial Barriers:&#x0D; The cost of treating CHDs can be exorbitant, making it unaffordable for many families in Pakistan. Surgical interventions and long-term medical management impose a significant financial burden, further compounded by the lack of health insurance coverage for congenital conditions. Public and private collaborations, along with governmental initiatives, are needed to develop financial assistance programs and insurance schemes that provide necessary support to families affected by CHDs [4].&#x0D; &#x0D; Improving Awareness and Education:&#x0D; Raising awareness about CHDs is crucial in order to promote early diagnosis, timely intervention, and prevention strategies. Public health campaigns, educational programs in schools and colleges, and community outreach initiatives should be implemented to disseminate information about CHDs, their signs and symptoms, and the importance of seeking medical attention. Empowering healthcare professionals with specialized training and knowledge in pediatric cardiology is also essential to enhance the capacity for accurate diagnosis and appropriate management[5].&#x0D; &#x0D; Collaboration and Research:&#x0D; Strengthening collaboration between healthcare institutions, researchers, and policymakers is vital to tackle the challenges associated with CHDs effectively. Increased investment in research on the causes, prevention, and treatment of CHDs in the Pakistani context can lead to significant advancements in understanding the disease and developing targeted interventions. Furthermore, fostering international collaborations can facilitate knowledge exchange and promote best practices in CHD management.&#x0D; &#x0D; Conclusion:&#x0D; Congenital heart defects present a significant healthcare challenge in Pakistan, affecting a large number of children and placing a strain on families and the healthcare system. Addressing the challenges associated with CHDs requires a comprehensive approach that includes improved infrastructure, enhanced awareness, financial support, and collaborative research efforts. By investing in these areas, Pakistan can pave the way for better outcomes and improved quality of life for individuals with CHDs.

Pregnancy Termination and Postnatal Major Congenital Heart Defect Prevalence After Introduction of Prenatal Cardiac Screening

Prenatal cardiac screening of the first and second trimesters has had a major impact on postnatal prevalence of congenital heart defects (CHDs), rates of termination of pregnancy (TOP), and outcomes among children born alive with CHDs. To examine the prenatal and postnatal incidence of major CHDs (ie, necessitating intervention within the first year of life), detection rate trends, rates of TOP, and the association of cardiac screening with postnatal outcomes. In this cross-sectional study, 3827 fetuses with antenatally diagnosed major CHDs in the Czech Republic (population 10.7 million) between 1991 and 2021 were prospectively evaluated with known outcomes and associated comorbidities. Prenatal and postnatal prevalence of CHD in an unselected population was assessed by comparison with a retrospective analysis of all children born alive with major CHDs in the same period (5454 children), using national data registry. Data analysis was conducted from January 1991 to December 2021. Prenatal detection and postnatal prevalence of major CHDs and rate of TOPs in a setting with a centralized health care system over 31 years. A total of 3 300 068 children were born alive during the study period. Major CHD was diagnosed in 3827 fetuses, of whom 1646 (43.0%) were born, 2069 (54.1%) resulted in TOP, and 112 (2.9%) died prenatally. The prenatal detection rate increased from 6.2% in 1991 to 82.8% in 2021 (P < .001). Termination of pregnancy decreased from 70% in 1991 to 43% (P < .001) in 2021. Of 627 fetuses diagnosed in the first trimester (introduced in 2007), 460 were terminated (73.3%). Since 2007, of 2066 fetuses diagnosed in the second trimester, 880 (42.6%) were terminated, resulting in an odds ratio of 3.6 (95% CI, 2.8-4.6; P < .001) for TOP in the first trimester compared with the second trimester. Postnatal prevalence of major CHDs declined from 0.21% to 0.14% (P < .001). The total incidence (combining prenatal detection of terminated fetuses with postnatal prevalence) of major CHD remained at 0.23% during the study period. In this cross-sectional study, the total incidence of major CHD did not change significantly during the 31-year study period. The prenatal detection of major CHD approached 83% in the current era. Postnatal prevalence of major CHD decreased significantly due to early TOPs and intrauterine deaths. The introduction of first trimester screening resulted in a higher termination rate in the first trimester but did not revert the overall decreasing trend of termination for CHDs in general.

Prevalence of Congenital Heart Defects in Term Children in the First Month of Life in the Arkhangelsk Region

The article presents an analysis of the incidence of congenital heart defects in children of the first month of life in one of the cities of the Arkhangelsk region for 5 years. The results of echocardiography of full-term infants in the first month of life, carried out in 2018-2022, were analyzed. The total number of full-term children in the first month of life who underwent echocardiography during the reporting period was 1112 people. The incidence of all CHD was 3.1%, while the most common CHD was atrial septal defect and accounted for 47% of all identified CHD. In second place in terms of prevalence is the defect of the interventricular septum, in the third place is the patent ductus arteriosus. Coarctation of the aorta was detected in 5.9% of patients; it was not critical and required only dynamic monitoring. Stenosis of the pulmonary artery was not detected during this period of time, but moderate stenosis of the branches of the pulmonary arteries (right and left) was detected in 0.36% of patients due to narrowing of their trunks. The prevalence of complex combined heart defects was 1.8% (tetralogy of Fallot with severe pulmonary artery stenosis, double outlet vessels from the right ventricle).

Maternal Blood Group Is a Possible Predictor for Developing Congenital Heart Disease in Turkish Children with Down's Syndrome

AbstractWe aimed to evaluate the clinical characteristics and the risk factors for the anomalies of Down's syndrome (DS) patients and reviewed the relation of blood groups of the patients and the mothers with these anomalies. Pediatric patients who were diagnosed with trisomy 21 between 2010 and 2022 were enrolled in this study. The medical records of the DS patients and their parents were retrospectively reviewed. A total of 48 patients applied to our clinic. 24 (50%) patients were diagnosed with congenital heart disease. 21 (43.75%) patients had hypothyroidism. The distribution of individual congenital heart defects (CHDs) was as follows: ventricular septal defect in eight (33.3%) patients, one of which also had patent ductus arteriosus (PDA); atrioventricular septal defects in seven (29.1%) patients; atrial septal defects in four (16.6%) patients, one of which also had patent ducus arteriosus; and PDA in five (20.8%) patients. One (4.2%) patient had tetralogy of Fallot. The incidence of CHD in patients with maternal blood group A was significantly higher than those without CHD, with a prevalence of 63.6 and 21.1%, respectively (p = 0.020). Binary logistic regression analysis showed that maternal blood group A was a risk factor for CHDs (odds ratio = 6.563; 95% confidence interval: 1.259–34.204; p = 0.025). Although we found that the rate of advanced father age was high in hypothyroidism type, the regression analysis showed that it was not a risk factor. We found that maternal blood group A increased the likelihood of being born with CHDs in DS.

Abstract P1002: Impact Of Maternal Diabetes-associated Oxidative Stress On The Developing Endocardium

Congenital heart defects (CHD) affect 1% of all live births and are the leading cause of birth defect-related mortality. The etiology of CHD is multifactorial as genomic variation and environmental factors act as contributors. Among the environmental teratogens, maternal pre-gestational diabetes mellitus and its concurrent maternal hyperglycemia (matHG) is associated with a ~5-fold increased risk of CHD. Oxidative stress (Ox-Stress) due to generation of excess reactive oxygen species is observed in embryonic hearts exposed to matHG in animal models, but its teratogenic effect on cardiac development is not understood. Additionally, we observed murine embryonic hearts exposed to matHG have reduced expression of Notch1, which is highly expressed in endocardial cells (EC) and reported a gene-environment interaction between matHG and Notch1 haploinsufficiency that results in CHD in mice. We hypothesize that matHG-induced Ox-Stress leads to the downregulation of endocardial Notch signaling and aberrant EC function leading to CHD. To investigate the effects of matHG-induced Ox-Stress on endocardial Notch signaling, we examined mouse embryos exposed to matHG with conditional deletion of Notch1 in EC. We used lineage tracing to detect differences in EC-derived structures in hyperglycemia and normoglycemia-exposed embryonic hearts. Finally, we asked whether modulating intracellular levels of Ox-Stress can rescue the CHD phenotypes observed with matHG exposure by generating mouse embryos with overexpression of the antioxidant gene, SOD1 . Results show conditional deletion of endocardial Notch1 in embryos exposed to matHG leads to highly penetrant CHD. We found increased Ox-Stress and reduced number of EC-derived mesenchymal cells in endocardial cushions of mouse hearts exposed to matHG. Finally, embryos with SOD1 overexpression have reduced Ox-Stress and decreased incidence of CHD compared to non-SOD1 overexpressing littermates. This works shows that matHG-induced Ox-Stress may be associated with aberrant EC and EC-derived cell function via disruption of Notch signaling. Mitigating Ox-Stress during cardiac development may lead to rescue of Notch signaling and EC function to reduce CHD incidence from matHG exposure.

Increased nuchal translucency in children with congenital heart defects and normal karyotype-is there a correlation with mortality?

Our objective was to investigate if an increased nuchal translucency (NT) was associated with higher mortality in chromosomally normal children with congenital heart defects (CHD). In a nationwide cohort using population-based registers, we identified 5,633 liveborn children in Denmark with a pre- or postnatal diagnosis of CHD from 2008 to 2018 (incidence of CHD 0.7%). Children with chromosomal abnormalities and non-singletons were excluded. The final cohort compromised 4,469 children. An increased NT was defined as NT > 95th-centile. Children with a NT > 95th-centile vs. NT < 95th-centile including subgroups of simple- and complex CHD were compared. Mortality was defined as death from natural causes, and mortalities were compared among groups. Survival analysis with Cox-regression was used to compare rates of mortality. Analyses were adjusted for mediators (possibly explanatory factors between increased NT and higher mortality): preeclampsia, preterm birth and small for gestational age. And for confounding effects of extracardiac anomalies and cardiac intervention, due to their close association to both the exposure and the outcome (i.e., confounders). Of the 4,469 children with CHD, 754 (17%) had complex CHD and 3,715 (83%) simple CHD. In the combined group of CHDs the mortality rate was not increased when comparing those with a NT > 95th-centile to those with a NT < 95th-centile [Hazard ratio (HR) 1.6, 95%CI 0.8;3.4, p = 0.2]. In simple CHD there was a significantly higher mortality rate with a HR of 3.2 (95%CI: 1.1;9.2, p = 0.03) when having a NT > 95th centile. Complex CHD had no differences in mortality rate between a NT > 95th-centile and NT < 95th-centile (HR 1.1, 95%CI: 0.4;3.2, p = 0.8). All analysis adjusted for severity of CHD, cardiac operation and extracardiac anomalies. Due to limited numbers the association to mortality for a NT > 99th centile (>3.5 mm) could not be assessed. Adjustment for mediating (preeclampsia, preterm birth, small for gestational age) and confounding variables (extracardiac anomalies, cardiac intervention) did not alter the associations significantly, except for extracardiac anomalies in simple CHD. An increased NT > 95th-centile is correlated with higher mortality in children with simple CHD, but the underlying cause is unknown and undetected abnormal genetics might explain the correlation rather than the increased NT itself, hence further research is warranted.

Role of intergenic interactions between cytokine and Toll-like receptor genes in the etiology of congenital heart defects

The incidence of congenital heart defects (CHDs) reaches 1% of all newborns. Of particular importance is the group of heart defects without a family history and chromosomal disorders, which makes up&gt;80% of all CHDs. These heart defects can be designated as sporadic CHDs, and their etiology and pathogenesis continue to be studied.Aim. To study the association of cytokine and Toll-like receptor (TLR) genes with CHDs in children.Material and methods. We examined 188 children with sporadic (without family history) CHDs (main group) and 103 healthy children without CHDs (control group). Genotyping was performed by real-time polymerase chain reaction (PCR).Results. Sporadic CHDs, in general, and septal CHDs, in particular, are formed on similar intergenic associations that determine the dysregulation of the proliferation and differentiation of progenitor cells of the cardiovascular system. Probably, one of the molecular mechanisms for sporadic septal CHDs may be the inefficiency of intracellular signaling pathways for Nuclear Factor kappa B (NF-κB) due to the primary deficiency of membrane heterodimers TLR1/TLR6, TLR2/TLR6, and TLR1/TLR2.Conclusion. Data on altered proinflammatory potential in the group of sporadic septal CHDs should be taken into account in the postnatal period when conducting cardiac surgery.

Maternal exposure to ambient air pollution and risk of congenital heart defects in Suzhou, China.

More and more studies have investigated the association between maternal exposure to ambient air pollution during pregnancy and incidence of congenital heart defects (CHDs), but results are controversial. The aim of this study was to investigate whether maternal exposure to air pollutants (PM10, PM2.5, NO2, CO, SO2) are associated with an increased risk of congenital heart defects in Suzhou city, China. Based on the birth defect monitoring system of Suzhou city and the Environmental Health Department of Suzhou CDC, the birth defect monitoring data and concentrations of five air pollutants (PM10, PM2.5, NO2, CO, SO2) in Suzhou city from 2015 to 2019 were obtained. The distribution of demographic characteristics of children with birth defects and exposure to air pollutant concentrations during different pregnancy periods were analyzed, Chi-square test was used to analyze whether there were statistical differences in the distribution of parturient woman age, pregnant weeks, times of pregnancy, as well as fetal sex and birth weight among children with congenital heart defects and other defects. Logistic regression model was further established to calculate the adjusted odds ratios (aORs) and 95% confidence intervals (CI) for the association between exposure to these ambient air pollutants during pregnancy and CHDs. A total of 5,213 infants with birth defects were recruited in this study from 2015 to 2019, the top five birth defects in Suzhou were syndactyly, congenital heart disease, ear malformation, cleft lip and palate, and hypospadias, and the proportion of congenital heart disease increased. The level of maternal exposures (mean ± sd) was highest in first trimester amongst pregnant women in Suzhou city. Compared to other birth defects, we observed significant increasing associations between PM2.5 exposure during second and third trimester with risk of CHDs, aORs were 1.228 and 1.236 (95% CI: 1.141-1.322, 1.154-1.324 separately) per a 10 μg/m3 change in PM2.5 concentration. Maternal NO2 exposure was significantly associated with CHDs in first trimester (aOR = 1.318; 95% CI: 1.210-1.435). Our study contributes to explore the current state of Suzhou air quality and the association between maternal air pollution exposure and congenital heart defects. Exposure to PM2.5 and NO2 is thought to increase the risk of CHDs, but comprehensive description of these associations will be needed in future studies.

Incidence of nonsyndromic congenital heart defects in the Republic of Srpska in the period 2015-2016

Background/Aim. Congenital heart defect (CHD) is the most common type of birth defect and one of the leading causes of infant mortality. It can be isolated or occur as a part of multiple different syndromes. The reported worldwide incidence of isolated CHD is between 70 and 120 per 10,000 live births. The aim of the study was to estimate the incidence of nonsyndromic C HD in the Republic of Srpska (RS), Bosnia and Herzegovina and compare it with other countries. Methods. The fetuses, live-born and stillborn infants with CHD during 2015 and 2016 in the RS, were analyzed using data from a cross-sectional study. Results. The total incidence of CHD was 163.95 per 10,000 total births, and the incidence of live-born with CHD was 136.64 per 10,000. The diagnosis was established prenatally in 8.09% of cases. The most common type of anomaly was ventricular septal defect (45.63%), followed by an atrial septal defect (31.40%), patent ductus arteriosus (7.44%), and pulmonary valve stenosis (5.18%). A significant difference in the incidence of CHD between regions and different maternal age groups was found. Conclusion. The incidence of CHD in the RS found in this study is higher than in other studies, with marked heterogeneity between different regions. This study provides baseline data for future monitoring of the risk factor changes and the implementation of primary preventive measures.

An insight into genetics of congenital heart defects associated with Down syndrome

Down syndrome is the most frequent live born human aneuploidy. Down syndrome is characterized by a set of phenotypically identified dysmorphism and various congenital malformations of which congenital heart defects is seen in about 50% of all cases. Atrio-ventricular Septal Defect is the most common form of congenital heart defect observed in Down syndrome. However, the exact molecular cause underlying the incidence of congenital heart defects and its differential phenotypic expression in DS are still not perfectly understood. In this review we have brought together findings from different studies and discussed multiple perspectives of the genetics of congenital cardiac defects in trisomy 21 background, viz., the contributions of triplicated dosage of chromosome 21 genes along with the effect of mutations in non- chromosome 21 disomic genes. Further, the roles of copy number variation and microRNAs have been discussed. We have also tried to shed light on the role of folate metabolism gene polymorphisms on congenital cardiac anomalies observed in Down syndrome. Lastly, we summarized the role of genes from different signaling pathways involved in cardiogenesis and also the recent developments in understanding of Down syndrome associated congenital heart defect from the studies on mice models. This review provides an overview regarding current state-of-art of knowledge related to Down syndrome associated congenital heart defects based on what have been discovered so far in this domain and hints at what prospect of research lies in this field in the future.

Novel circRNA-miRNA-mRNA networks regulated by maternal exercise in fetal hearts of pregestational diabetes

BackgroundMaternal exercise lowers the incidence of congenital heart defects (CHDs) induced by pregestational diabetes. However, the molecular mechanisms underlying the beneficial effects of maternal exercise remain unclear. The present study aimed to identify circular RNA (circRNA), microRNA (miRNA) and mRNA networks that are regulated by maternal exercise in fetal hearts of pregestational diabetes. MethodsPregestational diabetes was induced in adult C57BL/6 female mice by streptozotocin. The expression profiles of circRNAs, miRNAs and mRNAs in E10.5 fetal hearts of offspring of control and diabetic mothers with or without exercise were analyzed using next generation sequencing. circRNA-miRNA-mRNA networks in fetal hearts were mapped and key candidate transcripts were verified by qPCR analysis. ResultsPregestational diabetes dysregulated the expression of 206 circRNAs, 66 miRNAs and 391 mRNAs in fetal hearts. Maternal exercise differentially regulated 188 circRNAs, 57 miRNAs and 506 mRNAs in fetal hearts of offspring of pregestational diabetes. A total of 5 circRNAs, 12 miRNAs, and 28 mRNAs were incorporated into a final maternal exercise-associated regulatory network in fetal hearts of offspring of maternal diabetes. Notably, maternal exercise normalized the dysregulated circ_0003226/circ_0015638/miR-351-5p and circ_0002768/miR-3102-3p.2-3p pairs in fetal hearts of pregestational diabetes. ConclusionMaternal exercise reverses the dysregulated circ_0003226/circ_0015638/miR-351-5p and circ_0002768/miR-3102-3p.2-3p pairs, and partially normalizes circRNA, miRNA, and mRNA expression profiles in fetal hearts of pregestational diabetes. These findings shed new light on the potential mechanisms of the beneficial effects of maternal exercise on the developing heart in diabetic pregnancies.

Diagnosis of Dextrocardia with a Pictorial Rendition of Terminology and Diagnosis.

A significant number of patients with dextrocardia and other cardiac malpositions have other congenital heart defects (CHDs). The incidence of CHDs in subjects with cardiac malpositions is significantly greater than that in normal children, and the prevalence varies with the associated visceroatrial situs. The most useful approach to diagnosis is segmental analysis. Firstly, dextroposition should be excluded. In segmental analysis, the visceroatrial situs, ventricular location, status of atrioventricular connections, the great artery relationship, and conotruncal relationship are determined with the use of electrocardiogram (ECG), chest X-ray, and echocardiographic studies, and, when necessary, other imaging studies, including angiography. Following identification of the afore-mentioned segments, the associated defects in the atrial and ventricular septae, valvar and vascular stenosis or atresia may be determined by a review of the historical information, physical examination, and analysis of chest roentgenogram, ECG, and echocardiographic studies. Along the way, a pictorial rendition of the terminology and diagnosis of cardiac malpositions is undertaken.

EASD 2022 Abstract Highlights

The following highlights spotlight several standout abstracts presented at the 58th European Association for the Study of Diabetes (EASD) Annual Meeting, covering topics such as the effects of extended overnight fasting, the incidence of congenital heart defects in the offspring of females diagnosed with pregestational diabetes, and telehealth for the metabolic control of Type 1 diabetes.

Frequency of congenital heart diseases in newborn: ten years’ single clinic experience

Congenital heart disease occurs in the population with a frequency of 8 per 1000 live births. Information on the incidence of various congenital heart defects in newborns in connection with the widespread introduction of prenatal ultrasound diagnostics and an increase in its accuracy allows for planning pregnancy and management of newborns with critical heart defects. The aim of this study wasto retrospectively study the incidence of various congenital heart defects according to echocardiographic studies among newborns in the framework of the experience of one clinic over the period from 2009 to 2019. In the clinic of the Science Research Institute of Cardiology, echocardiographic studies were performed in 34298 children aged 1 day to 17 years, the average age was 3.68 years, the median 2.0 years. The newborns accounted for 4.6% of them (n = 1607). The results of echocardiographic studies were analyzed in 1607 newborns aged from 1 to 27 days. In 247 (15.3%) of the examined no congenital defects were detected, 1360 newborns had various congenital heart diseases. It was found that the most common anomaly in newborns were interventricular septal defects (37%), more than 60% of all interventricular septal defects were clinically insignificant small muscle defects. It has been shown that the incidence of congenital heart defects in newborns with complex prenatal diagnosis (coarctation of the aorta, double outlet right ventricle) has increased in recent years. A decrease in the incidence of atrioventricular septal defect was observed over the past five years. The possibilities of neonatal cardiac surgery in a particular clinic influenced the structure of the occurrence of individual congenital heart disease due to prenatal pregnancy planning and surgical tactics.

Magnitude of Stress among Parents of Children with Cardiac Malformation in Tertiary Care Hospitals Peshawar

Background: Congenital Heart Defects (CHDs) are inborn anomalies or mal-formations of heart. These are the most common type of birth anomalies, approximately 1-2% babies are delivered with cardiac anomalies all over the world. CHDs are some of these deformities that disturb the lives of effected child as well as parents of the effected child. Studies from Pakistan have only reported incidence and risk factors of CHDs and have not identified their association with parental stress. Aim: The aim of this study was to identify the magnitude of parental stress caused by child diseased status. Methodology: This was a descriptive cross-sectional study. 387 participants was the sample size, calculated through online software open-epi. Every parent fulfilling the inclusion criteria was selected through Consecutive Sampling technique. And, data was collected through an adopted questionnaire. Results: Majorities (60.2%) of the study participants were male. The mean overall score of stress was 64.36 with a Standard Deviation of ±6.24534. A strong association was identified in the category of gender, females were more in stress than the male (Chi-square = 42.66, P &lt; 0.001). Conclusion: The outcomes of the current study show that parents of the CHD diagnosed kids were in stress. There was a major role of demographical variable in the level of outcome variable “stress” among parents of CHD diagnosed children, such as gender, age, income, occupation, and education level.