Congenital Heart Defects In Children Research Articles

Possibilities of modern methods of cardiac imaging in the diagnosis and preoperative planning of transposition of the great arteries in children: a prospective study

INTRODUCTION: Transposition of the great arteries (TGA) is the classic, most common and severe form of cyanotic congenital heart defects in children, which is characterized by a variety of anatomical and hemodynamic variants, combined with other cardiac anomalies and high infant mortality rates. The surgical treatment and the possibility of performing simultaneous correction of TGA depend on the anatomical and hemodynamic features of the TGA and the presence of combined intra- and extracardiac anomalies, which must be determined using cardiac imaging techniques on the preoperative stage.OBJECTIVE: To evaluate the capabilities of TTE and cardiac CT in the diagnosis and surgical planning of TGA in children.MATERIALS AND METHODS: The study included 29 children with an incoming diagnosis of transposition of the great arteries. The average age of the patients was 31 (14.5; 67) days. All children underwent TTE, 21 — cardiac CT with intravenous contrast enhancement, 6 — catheterization of the cardiac cavities with conventional angiography. Cardiac MRI was not performed due to the severe and unstable general condition of all patients and the significant risks from a longer stay in anesthesia. Capabilities of TTE and cardiac CT in determining combined intra- and extracardiac anomalies were assessed and compared. All data from TTE and cardiac CT were compared with the results of conventional angiography and intraoperative data. The interval between TTE, cardiac CT and angiography or surgery was less than 10 days.RESULTS: The accuracy of TTE and cardiac CT in TGA diagnosis and determining its type was 100% for both methods, however, with regard to determining combined intra- and extracardiac anomalies, the methods play a different role: the accuracy of cardiac CT in determining combined intracardiac anomalies in patients with TGA was 87.7% (AUC 89.3%), for TTE — 97.1% (AUC 97.3%). Comparing the capabilities of the techniques in determining intracardial anomalies, no statistically significant difference was obtained (p=0.092). The diagnostic accuracy of cardiac CT in determining concomitant anomalies of the great vessels and extracardiac pathology was 98% (AUC=98.9%). The sensitivity and specificity of TTE in the comprehensive assessment of concomitant extracardiac anomalies were 58% and 98%, respectively (accuracy 89.1%), AUC 81.1%. Comparing the capabilities of techniques in determining intracardial anomalies, cardiac CT showed to be a more accurate tool in comparison with TTE (p=0.041).DISCUSSION: Results of our study demonstrate the high efficiency of TTE in determining indications for emergency palliative correction of transposition of the great arteries, however, the method has limited diagnostic capabilities in assessing surgical risks when planning radical correction of the defect. Cardiac CT has proven to be a highly accurate tool both in making a diagnosis and in identifying combined intra- and extracardiac anomalies, which play a decisive role in planning open surgical correction of transposition of the great arteries in children.CONCLUSION: For patients with TMA and critical hypoxia, transthoracic echocardiography is the definitive diagnostic tool for planning endovascular repair. When planning open surgery, transthoracic echocardiography should be complemented by cardiac CT with ECG gating to assess the anatomy of the coronary arteries and possible associated extracardiac anomalies.

Analysis of the Frequency and Structure of Congenital Heart Defects in Children

The article provides the frequency of their occurrence and the structure of congenital heart defects in 1,492 children according to the Scientific Research Institute of Heart Surgery and Organ Transplantation in Bishkek, Kyrgyz Republic. Among all forms of congenital heart defects in children, patients with enrichment of the small circle of blood circulation without cyanosis prevailed —1318 (88.3%) patients.

Reprogramming of the developing heart by Hif1a-deficient sympathetic system and maternal diabetes exposure.

Maternal diabetes is a recognized risk factor for both short-term and long-term complications in offspring. Beyond the direct teratogenicity of maternal diabetes, the intrauterine environment can influence the offspring's cardiovascular health. Abnormalities in the cardiac sympathetic system are implicated in conditions such as sudden infant death syndrome, cardiac arrhythmic death, heart failure, and certain congenital heart defects in children from diabetic pregnancies. However, the mechanisms by which maternal diabetes affects the development of the cardiac sympathetic system and, consequently, heightens health risks and predisposes to cardiovascular disease remain poorly understood. In the mouse model, we performed a comprehensive analysis of the combined impact of a Hif1a-deficient sympathetic system and the maternal diabetes environment on both heart development and the formation of the cardiac sympathetic system. The synergic negative effect of exposure to maternal diabetes and Hif1a deficiency resulted in the most pronounced deficit in cardiac sympathetic innervation and the development of the adrenal medulla. Abnormalities in the cardiac sympathetic system were accompanied by a smaller heart, reduced ventricular wall thickness, and dilated subepicardial veins and coronary arteries in the myocardium, along with anomalies in the branching and connections of the main coronary arteries. Transcriptional profiling by RNA sequencing (RNA-seq) revealed significant transcriptome changes in Hif1a-deficient sympathetic neurons, primarily associated with cell cycle regulation, proliferation, and mitosis, explaining the shrinkage of the sympathetic neuron population. Our data demonstrate that a failure to adequately activate the HIF-1α regulatory pathway, particularly in the context of maternal diabetes, may contribute to abnormalities in the cardiac sympathetic system. In conclusion, our findings indicate that the interplay between deficiencies in the cardiac sympathetic system and subtle structural alternations in the vasculature, microvasculature, and myocardium during heart development not only increases the risk of cardiovascular disease but also diminishes the adaptability to the stress associated with the transition to extrauterine life, thus increasing the risk of neonatal death.

Extracardial pathology as an additional risk factor in the correction of congenital heart defects in children

Introduction. Concomitant diseases as a risk factor for surgery remain an urgent problem in pediatric cardiac surgery. The article presents the role of comorbidity in pediatric cardiac surgery. A comparative analysis of the indicators of cardiac surgical treatment of patients with and without extracardiac pathology was carried out. Aim: to determine the significance of extracardiac causes as an additional risk factor in the correction of congenital heart lesions in children. 
 Materials and methods. Prospective analysis of five hundred patients who had undergone cardiac surgery in the departments of cardiac surgery and interventional cardiology. Patients were divided into a main group of patients with concomitant pathology 
 (n = 350) and a control group (n = 150) without concomitant pathology. A complex of modern therapeutic and diagnostic procedures and a multidisciplinary approach were used. 
 Results. A high incidence of complications was shown in the main group (70%). Hospital mortality was higher in patients with concomitant pathology and amounted to 17.4%, compared to 3.3% in the group without concomitant pathology. The average duration in the ICU for patients with concomitant pathology was 18 ± 2 bed days, for patients without concomitant pathology — 4 ± 2 bed days. 
 Conclusion. The presence of concomitant pathology has been shown to influence significantly on the development of complications and be a prognostic risk factor that must be included in modern prediction models.

Association between aluminum and iron exposure in maternal blood and umbilical cord blood and congenital heart defects in children.

Congenital heart disease (CHDs) is the major cause of mortality from birth defects, affecting up to 1% of live births worldwide. However, the relationship between aluminum (Al) and iron (Fe) levels and the risk of CHDs has yielded inconsistent results. We conducted a pair-matched case-control study that included 97 CHDs and 194 non-CHDs to investigate the association and interaction between Al/Fe exposure and the risk of CHDs in a birth cohort study in Lanzhou, China. Higher concentrations of cord blood Al were associated with a greater risk of total CHDs (aOR = 2.826, 95% CI [1.009-7.266]) and isolated CHDs (aOR = 10.713, 95% CI [1.017-112.851]) compared to the lowest Al level. Both in maternal blood and cord blood, a significant dose-effect was observed between Al level and total CHDs (Ptrend < 0.05), but a similar pattern was not observed for Fe. High Al in addition to high Fe appeared to elicit a stronger association with CHDs than both lowest tertile of Al and Fe level in umbilical cord blood, particularly for multiple CHDs, septal defects and patent ductus arteriosus. Our study suggests that exposure to Al during pregnancy (≥2,408 μg/L) is significantly associated with an increased risk of CHDs in offspring, especially septal defects, and that high levels of Al and Fe are strongly correlated with fetal heart development. Further research is needed to understand the underlying mechanisms.

Analysis of molecular genetic causes of congenital heart defects in children

In 10–20% of cases, congenital heart defects are caused by chromosomal abnormalities and gene mutation. Purpose. The purpose of the study: analysis of the genetic causes of congenital heart defects in children.Materials and Methods. The analysis of the medical history and the results of Genetics and Molecular Research (GMR) in 15 children with congenital heart defects were carried out.Results. Genome-wide DNA sequencing in patients with congenital heart defects revealed deletion 21q22.3 with duplication 4q31.1 -&gt;qter and pathogenic variants in the genes PPP1CB, FN1, PHF6, CITIED2, ARID2, KMT2A, CIT, JAG1, MED13L, ELN, CHRNA3, KCNK9. Conclusion. In the vast majority of cases in the examined children, congenital heart defects were caused by pathogenic gene variants or chromosomal abnormalities. Congenital heart defects are an absolute indication for cytogenetic and molecular genetic examination.

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.

Using cryopreserved allogeneic pericardium to repair congenital heart defects in children

Patches prepared from autologous, allogeneic, or xenogeneic tissues are widely used in the repair of congenital heart defects in children. Since 2002, cryopreserved allogeneic pericardial patches have been prepared in our institution as an alternative to commercially available patches. This study retrospectively reviewed donor and patient data concerning cryopreservation time and the clinical use of the pericardium in 382 children who were operated on at a single center between 2004 and 2021. There were 177 donors: 98 males and 79 females. The median donor age was 13 years (range: 1 month to 53 years) and the median cryopreservation time was 72 days (range: 3–685). There were 382 pediatric patients: 224 males and 158 females. The median patient age was 1 month (range: 3 days to 17.8 years). The patches were used for primary surgeries in 228 patients and for reoperations in 154. The patches were implanted into the right heart or venous circulation in 209 patients, the left heart or arterial circulation in 246 patients, and both sides of the circulatory system in 73. Extracardiac patch implantation was performed in 339 patients, intracardiac in 79 patients, and both intracardiac and extracardiac in 36 patients. Our study presents a single-center experience in the use of cryopreserved allogeneic pericardium. The pericardium can be used on the systemic and pulmonary sides of the circulatory system, in either extracardiac or intracardiac positions. However, there is no uniform strategy for selecting the “patch of choice” for correcting congenital heart defects in children, especially since there are few studies comparing several types of patches.

Pattern of congenital heart defects among children in Jazan Region, Saudi Arabia: A five-year hospital-based study

ABSTRACT Background: Congenital heart defects (CHDs) are the leading cause of death and morbidity in children under one year around the world. This study explores the prevalence, patterns, and interventions of congenital heart defects in children in the Jazan region, Saudi Arabia. Methods: This was a descriptive cross-sectional study, conducted in the Jazan region, Saudi Arabia. We looked back at all of the CHD patients who went to the two tertiary hospitals in the Jazan region between January 2017 and December 2021 and collected and analyzed their background information and diagnosis. Results: During the study period, 1,275 CHD patients aged under 15 years old were identified. A total of 717 (56.24%) were males, while 558 (43.76%) were females. Acyanotic CHDs were the most common, accounting for 79.21% of all cases, while cyanotic CHDs accounted for only 20.79%. Ventricular septal defect (VSD), atrial septal defect (ASD), and patent ductus arteriosus (PDA) were the most common acyanotic CHDs, accounting for 35.69%, 24.31%, and 8% of total cases, respectively. The most common cyanotic CHDs were Tetralogy of Fallot (7.14%) and Total Anomalies of Pulmonary Venous Connection (TAPVC) (1.57%). The most common Cath intervention was patent ductus arteriosus (PDA). Conclusions: This study’s results are similar to those described in previous studies from around the world, except for the unreported Transposition of the Great Arteries (TGA) cases. This kind of information is very important for setting priorities in the Saudi Arabian health sector in light of the National Transformation Program.

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).

Impact of Prenatal and Postnatal Diagnosis on Parents: Psychosocial and Economic Aspects Related to Congenital Heart Defects in Children.

Congenital heart defects (CHD) are defects detected both prenatally and after birth. They are the most common congenital defects. Despite advances in diagnosis and treatment, CHD remain an important cause of morbidity and mortality in newborns, which has a great impact on economic aspects. It is crucial to provide a holistic approach to the care of children with CHD, including regular cardiac check-ups, appropriate drug treatment, surgical or cardiac interventions as needed, rehabilitation, psychological support, and education for patients and their families. Parents experience a variety of psychological problems. This article summarizes the influence of CHD in the psychological and economic areas.

Effective and aesthetic results of horizontal right axillary minithoracotomy for congenital heart defects repair in children

Background: horizontal right axillary minithoracotomy is one of the treatment options for many simple congenital heart defects. This approach shows many aesthetic advantages besides effectiveness and safety. This study aims to: comment on the technical characteristics and early results of horizontal right axillary minithoracotomy in children at Hanoi Heart Hospital.&#x0D; Methods: a descriptive cross-sectional study. We retrospectively reviewed 156 patients who underwent horizontal right axillary minithoracotomy at Hanoi Heart Hospital from January 2022 to December 2022.&#x0D; Results: horizontal axillary approach could be applied even for children with low weight, average weight was 12.22 ± 8.67 kg, the lowest was 2.6 kg and the highest was 51.0 kg. A wide range of congenital heart defects were repaired, including ventricular septal defect closure (84 patients), secundum atrial septal defect closure (22 patients), ventricular septal defect with stenosis repair (31 patients), partial atrio-ventricular septal canal repair (6 patients), repair of atrial septal defect with partial abnormal return of the pulmonary veins (3 patients), repair of ventricular septal defect and atrial septal defect (4 patients), Cor triatriatum sinister repair (4 patients), mitral valve repair (1 patient), atrial septal defect and pulmonary valve stenosis repair (1 patient). Cannulation of the aorta and vena cavae was performed through the main incision, whose size ranged from 3.5 to 5.5cm. The average postoperative hospital stay was 7.34 ± 2.16 days, the rate of severe complications and hospital mortality were 0%.&#x0D; Conclusion: horizontal right axillary minithoracotomy was a good approach to correct many simple congenital heart defects in children. This technique is being applied at Hanoi Heart Hospital safely and provided outstanding advantages in terms of aesthetics.

Study to assess incidence and type of congenital heart defect in children with down syndrome presenting to tertiary care teaching hospital of Southern Rajasthan

Background: Down syndrome occurs in people of all races and economic levels. Cardiac anomalies with a prevalence of about 50% are the most common anomaly responsible for death during the 1st two years of life in children with down syndrome. Objective of the study was to Assess the incidence and type of congenital heart disease in children with down syndrome presenting to a tertiary care hospital. Methods: Hospital based descriptive study. Participants: All children (0 to 18 years) diagnosed (clinically or on karyotyping) with Down syndrome, presenting in RNT Medical College, Udaipur Each patient was evaluated with a pre-set Performa which contained detailed sociodemographic profile, maternal and clinical history including age of conception, detailed physical examination to look for features of down syndrome. Degree of Intellectual / Developmental retardation was assessed by Vineland Social Maturity Scale. 2D- echo, karyotyping was done in all patient. CBC, thyroid profile, CXR, USG- abdomen, Invertogram were done as per need. Results: Total 144 participants included in the study, 75 (52%) were females and rest were males 48%. Out of these 111 (77%) were aware about dog bite causes disease and among these 52 (46.8%) were aware that dog bite causes rabies. Among the participants, 138 (95.8%) were aware about the vaccine availability and 125 (90.5%) knew vaccine is available in Government Hospital. In the study 88% of dog bite victims received treatment. Conclusions: More than half of children with Down syndrome have congenital heart disease, mostly Acyanotic, more specifically VSD. Early screening and diagnosis re the key to avoid irreversible hemodynamic consequences.

Defibrillation test in paediatric patients: should be done?

Abstract Funding Acknowledgements Type of funding sources: None. The defibrillation test (DFT) of an implantable cardioverter-defibrillator (ICD) is performed to evaluate ventricular fibrillation detection and termination. In adults, routine defibrillation testing for transvenous ICD is less usually done as some studies found no advantages but some potentially risks associated with. On the other hand, implantation of ICDs in paediatric patients has different characteristics than in adults. The position of the defibrillation coil will change with the body’s growth and could reflect changes in the defibrillation vector. Also, the reasons of implantation of an ICD are different (ventricular arrhythmias frequently associated with adult’s myocardial infarction vs channelopathies, non-ischemic myocardiopathies and congenital heart defects in children and young). There is still lack of information about the utility of the DFT in paediatric patients. Objective To describe the characteristics of paediatric patients who underwent implantation of an ICD , results of DFT and follow-up. Methodology Retrospective cohort study of patients less than 21 years old who underwent implantation of an ICD in the lasts 10 years at a reference paediatric hospital. In DFT, VF was induced by T wave shock, fast burst pacing or continuous direct current. Response of ICD to VF was evaluated. Patients with failure to terminate VF by ICD were defibrillated with external defibrillator. Results 68 patients with 73 ICD implantations (five replacements). Median age was 13 years old. The youngest patient was 2 years old and the oldest 21 years old. 72.6% (53/73) of patients underwent DFT. In 90.6% (48/53) of them, a VF was induced. In two patients (4%, 2/48) the ICD did not terminate the VF. One of these patients had Danon syndrome and the VF did not terminate despite of maximum energy discharged and changes in the vector of defibrillation; the problem was fixed with replacement of the single coil lead by a dual coil system. The other patient had arrhythmogenic cardiomyopathy and the ICD did not detect the VF. During the follow up, there were 20 shocks in 13 patients. 13 shocks were appropriate (and successful). One patient died because of non-arrhythmic illness. Conclusions In paediatric patients, the defibrillation test is useful to ensure both adequate detection of malignant ventricular arrhythmias, as well as their ability to reverse them. Its lack of performance could affect 4% of the implants. Therefore, its performance in paediatric patients is recommended. There could be greater utility in patients with hypertrophic cardiomyopathy.

Intraoperative transfusion is a risk factor for cerebral injury after cardiac surgery in children: a prospective observational study

INTRODUCTION: Donor blood components are able to initiate a systemic inflammatory response syndrome (SIRS) and potentiate neuroinflammation with subsequent cerebral damage. OBJECTIVE: To study the effect of transfusion on the development of cerebral damage during the surgical correction of congenital heart defects in children. MATERIALS AND METHODS: 78 patients aged from 1 to 78 months, weighing from 3.3 to 21.5 kg, were studied. All patients underwent correction of a septal defect under cardiopulmonary bypass. All patients were divided to group 1 — without the use of transfusion and group 2 — with the use of red blood cell transfusion. Cerebral damage markers (S-100-β protein, neuron-specific enolase (NSE) and glial fibrillar acidic protein (GFAP)) and SIRS (interleukins 1 (ILb-1), 6 (IL-6), 10 (IL-10) and tumor necrosis factor alpha (TNF-α) were studied. Markers ware studied at three control points: 1 — before the start of surgery, 2 — immediately after end of cardiopulmonary bypass, 3 — 16 hours after the end of the operation. RESULTS: The peak concentration of most markers in the blood in both groups of patients was noted at the 2nd control point. The concentration of all markers of cerebral damage was significantly higher in the transfusion group at the 2nd control point: S-100-β protein (ng/ml) — 509.90 [379.30–871.70] and 717.10 [517.90–1195.33] (р = 0.024); NSE (ng/ml) — 17.55 [11.19–26.41] and 34.05 [17.06–44.90] (р = 0,023); GFAP (ng/ml) — 0.1190 [0.1135–0.1245] and 0.1231 [0.1138–0.1493]. Correlations were found between markers of cerebral damage and SIRS, the strongest of which was the relationship between NSE and TNF-α at the 3rd control point — Rho = 0.43 (p = 0.0001). A correlation of S-100-β protein with transfusion volume was observed at the 2nd (Rho = 0.48, p = 0.00065) and 3rd control points (Rho = 0.36, p = 0.01330). CONCLUSIONS: The influence of the fact of transfusion and the dose of red blood cell on the development of cerebral damage during cardiac surgery in children has been proven.

Safety and Efficacy of Right Axillary Thoracotomy for Repair of Congenital Heart Defects in Children.

Minimally invasive repair of congenital heart defects in children has not gained wide popularity yet compared to minimally invasive approaches in adults. We sought to review our experience with this approach in children. This study included a total of 37 children (24 girls, 64.9%) with a mean age of 6.5 ± 5.1 years, who underwent vertical axillary right minithoracotomy for repair of a variety of congenital heart defects between May 2020 and June 2022. The mean weight of these children was 25.66 ± 18.3 kg. Trisomy 21 syndrome was present in 3 patients (8.1%). The most common congenital heart defects that were repaired via this approach were atrial septal defects (secundum in 11 patients, 29.7%; primum in 5, 13.5%; and unroofed coronary sinus in 1, 2.7%). Twelve patients (32.4%) underwent repair of partial anomalous pulmonary venous connections with or without sinus venosus defects, while 4 patients (10.8%) underwent closure of membranous ventricular septal defects. Mitral valve repair, resection of cor triatriatum dexter, epicardial pacemaker placement, and myxoma resection occurred in 1 patient (2.7%) each. No early mortality or reoperations. All patients were extubated in the operating room, and the mean length of hospital stay was 3.3 ± 2.04 days. Follow-up was complete (mean 7 ± 5 months). No late mortality or reoperations. One patient required epicardial pacemaker placement due to sinus node dysfunction 5 months after surgery. Vertical axillary right thoracotomy is a cosmetically superior approach that is safe and effective for repair of a variety of congenital heart defects in children.

A Cross Sectional Study on Prevalence and Pattern of Murmur and CHD in Children of District Shopian

Background: Congenital heart defects (CHD) are among the common congenital birth defects with an estimated incidence of 8–10/1000 live births which can be easily identified on occasions on routine checkup visits on auscultation and confirmed by echocardiography. With the advanced diagnostics and corrective therapies for CHDs, the percentage of individuals surviving to adulthood has increased over past few decades, it is imperative to identify the disease at the earliest. Methods: This was a hospital-based outpatient study conducted in the pediatric OPD of the hospital in children aged 12 years or less with no previous known heart disease. Children were seen for any murmur or features of heart disease. A total of 14000 patients were attended with 100 having murmur and an echocardiogram was advised.Results: Of the 14000 children seen in the OPD, 100 had a murmur on auscultation accounting for about 0.714% patientsi.e 7 per 1000 children. Of the 100 patients with murmur, 60 patients came back with an echocardiogram of which38 had an abnormal echo corresponding to 63.33% cases. Hence the murmur was present in approximately 7 per 1000 children and the incidence of heart lesions among those with murmur was 63.33% with VSD &amp; ASD in combination as the most occurring lesion.Conclusion: The prevalence of murmur in children was approximately 7 per 1000 and the sensitivity of auscultation in finding a heart disease was 63.33%. However, a large study over a greater period of time with a good follow up of the patients is recommended.

Congenital heart defects in children with Gastro-intestinal malformations

Background. Congenital malformations of the gastrointestinal (GI) tract are common birth defects detected in the neonatal period and usually present with signs of GI obstruction which at times can be life threatening. Anorectal malformations are among the more frequent congenital anomalies. The co-occurrence of congenital heart defect (CHD) along with GI malformation can significantly affect the natural history of either defect. Purpose - to study the prevalence of GI malformations in children with CHD and study the risk factors. Materials and methods. A total 100 patients of GI malformations were enrolled out of which 66 (66%) were males and 34 (34%) were females. All patients with any GI malformations (anorectal malformation, tracheoesophageal fistulae, anterior abdominal wall defects) presenting to Neonatal Intensive Care Unit (NICU), Paediatric Cardiac unit, Pediatric and Pediatric surgery outpatient department (OPD) as well as In-patient department (IPD) between October 2019 to October 2021 were included in study. A detailed history and examination was done followed by echocardiography and the prevalence of CHD among GI malformation was observed and risk factors were studied. Results. Most common GI anomaly was anorectal malformation (71%) followed by tracheoesophageal fistula (17%), CHD was seen in 14 children. Most common heart defect was ventricular septal defect (VSD) (43%) followed by patent ductus arteriosus (PDA) (36%) and atrial septal defect (ASD) (14%). Among cases with anorectal malformation, CHDs was seen in 10% and the most common defect was VSD (43%). Forty one percent of cases with tracheoesophageal fistula had CHDs with PDA (57%) being the most common underlying defect. Functional heart defects were present in 28 children of GI malformations. Conclusions. The coexistence and severity of CHD in patients with GI malformation can have prognostic implications. Thus, early cardiac evaluation should be performed in every case of GI malformation, preferably with echocardiography. This is likely to help in the risk stratification as well as management of such children. The study was performed in accordance with the principles of the Declaration of Helsinki. Study is approved by Ethical Committee of the Institution. Informed consent of patients was obtained for the study. No conflict of interests was declared by the authors.

Abstract 13305: Impact of Small Cajal-Body Associated RNAs in IPSC-Derived Cardiomyocytes From Progeria and Noonan Patients

Introduction: Progeria and Noonan syndrome are major genetic disorders that impact the cardiovascular system and lead to congenital heart defects in children. The small Cajal body-associated RNAs (scaRNAs) are a class of H/ACA box non-coding RNAs, which play an important role in the biochemical modification of spliceosomal RNAs and contribute to alternative splicing and maturation of mRNAs. In this study, we aim to elucidate the role of scaRNAs during cardiac differentiation and its effect in Progeria and Noonan Patients-derived induced pluripotent stem cell-derived cardiomyocytes (iCMC). Hypothesis: We hypothesize that scaRNAs have a significant role in cardiac development and are associated with cardiovascular development in disease conditions. Methods and Results: To elucidate the role of scaRNAs in Noonan and Progeria patients during cardiomyogenesis, we differentiated iCMCs from iPSCs generated from Noonan (c.1654A&gt;G) and Progeria (c.1824 C&gt;T) patients. The differential expression of scaRNAs was performed by qRT-PCR and the result shows that scaRNA6, scaRNA11, scaRNA14 scaRNA20, and scaRNA28 were significantly reduced in Noonan and Progeria patients iCMC compared to normal skin fibroblast (SF)-derived iCMCs and Urinary epithelial cells (UE)-derived iCMC (Fig.1). The mRNA expression of the cardiac-specific gene in Progeria and Noonan patient-derived iCMC was significantly reduced when compared with normal iCMC. Furthermore, the scaRNA overexpressed normal iCMCs (scaRNA20-OE-iCMCs) showed significantly increased cardiac-specific mRNA and protein expressions when compared with control iCMC (Figs.2 &amp; 3) . Conclusion: Our finding indicates that scaRNAs have major impacts on Noonan and Progeria patient-derived iCMC. Targeting the scaRNAs will have efficient therapeutic potential for Noonan and Progeria patients.

The Effect of Erythrocyte-Containing Donor Blood Components in the Priming of the Cardiopulmonary Bypass Circuit on the Development of Systemic Inflammation During Correction of Congenital Heart Defects in Children

Various pathological factors accompanying any cardiac surgery can cause intraoperative systemic inflammatory responses (SIR). As the number of cardiac surgical interventions grows worldwide, the issue of SIR prevention appears highly relevant.Aim of the study. To determine the effect of not using donor blood components in the priming of the cardiopulmonary bypass circuit in children with septal congenital heart defects, operated under cardiopulmonary bypass, on the severity of SIR.Material and methods. A prospective, randomized study included 40 children with a median age of 14 [12–22.5] months and weight of 8.8 [7.25–11] kg. All patients underwent radical correction of septal defect under cardiopulmonary bypass. The patients were divided into two groups depending on the use of donor blood components for priming the CPB. The severity of SIR was assessed using four specific serum biomarkers such as interleukin 1b (IL-1b), interleukin 6 (IL-6), interleukin 10 (IL-10), and tumor necrosis factor alpha (TNF-α), measured before the operation, after the CPB and 16 hours after the surgery. In addition, the intra- and postoperative periods were evaluated.Results. The safety of the proposed strategy of skipping the donor blood was confirmed by lack of any organ dysfunction in all patients, as well as a significant difference in the balance of oxygen delivery and consumption. In addition, the levels of systemic inflammation markers after CPB were significantly higher in patients who had transfusion: IL-1b was 3.3 [3.2–3.48] pg/mL vs 2.86 [2.7–3.11] pg/mL (P=0.003) and TNF-α reached 1.81 [1.37–3.3] pg/mL vs 1.33 [1.26–1.76] pg/mL (P=0.034). Meanwhile, 16 hours post surgery, IL-6 and IL-10 levels were significantly higher in the group using donor blood components with IL-6 being 48.91 [33.89–57.6] pg/mL vs 31.56 [26.83–48.89] pg/mL (P=0.087) and IL-10 reaching 0.8 [0.76–1.43] pg/mL vs 0.69 [0.6–0.83] pg/mL (P=0.005).Conclusion. The study demonstrates and confirms the safety and efficacy of cardiopulmonary bypass without using donor blood components to reduce the severity of the systemic inflammatory response in children undergoing correction of septal congenital heart defects.