Atrioventricular Septal Defect Research Articles

Deciphering postoperative hemodynamics in pediatric intensive care: insights from patient-specific computational fluid dynamics models for congenital heart disease

Abstract Purpose Precise hemodynamic control is imperative for optimizing outcomes in children undergoing cardiac surgery, particularly in the pediatric intensive care unit (PICU). Computational fluid dynamic (CFD) models tailored to individual pediatric patients following definitive repairs for congenital heart disease hold the potential to discern and analyze the intricacies of their hemodynamic systems. This study aims to explore the applicability of patient-specific CFD models in determining optimal treatment strategies to enhance patient hemodynamics. Methods Ten postoperative pediatric patients (6 females and 4 males, median age 4.5±3.6 months, median height 62.5±5.3 cm, and median weight 6.2±1.3 kg) diagnosed with ventricular septal defect (VSD, n=5), atrial septal defect (ASD, n=2), and atrioventricular septal defect (AVSD, n=3) were enrolled. Continuous radial arterial waveforms and sporadic arterial blood draws, including lactate levels, were recorded in the PICU postoperatively. Fluid dynamics equations were employed to model major and peripheral blood vessels, utilizing a 0–1-dimensional hemodynamic model validated in previous studies and refined for this investigation. Sensitivity analysis based on correlation coefficients identified significant parameters, adjusted for replicating pressure waveforms. Comparison and re-approximation was made with actual radial artery pressure waveforms from 78 arterial waveforms and blood draws. Updated parameters were then correlated with postoperative time and lactate levels in the ICU. Results Replicated waveforms demonstrated high agreement with original arterial waveforms, with mean, maximal, and minimal blood pressure percentages of 96.7±1.8%, 96.7±2.4%, and 95.8±2.4%, respectively. Notably, systemic vascular resistance and compliance exhibited a substantial relationship with time elapsed after admission to the PICU, with correlation coefficients (R) of 0.26 and 0.43, respectively. Lactate levels demonstrated a decrease with reduced peripheral vascular resistance and an increase in vascular compliance, with R of 0.23 and 0.32, respectively, aligning with expected clinical improvement and stability. Conclusion This study successfully attained precise replication of radial artery blood pressures and intricate pressure waveforms using patient-specific CFD models in pediatric patients following congenital heart disease repairs. The insights gained shed light on the pivotal hemodynamic parameters that impact both stability and instability. This research sets the stage for theoretically informed treatments by amalgamating real-time biological information with patient-specific CFD models.Re-approximation of arterial waveformCorrelation of hemodynamic parameters

Staged ventricular recruitment following single-ventricular palliation in unbalanced atrioventricular septal defect with heterotaxy syndrome.

A newborn with unbalanced atrioventricular septal defect and heterotaxy syndrome underwent early surgeries for single-ventricular palliation due to a small left ventricle. Following procedures, including the modified Damus-Kaye-Stansel, there was a notable increase in left ventricular size. This progression allowed successful biventricular repair at 7 months. This case highlights potential ventricular development after palliative procedures in patients with borderline ventricular size.

Common Atrium Concurrent with Atrioventricular Septal Defect: A Case Report

Common atrium accounts for 0.5% to 1% of congenital heart diseases. It is characterized by the atria septum's complete absence and atrioventricular canal defect. It may occur as an isolated malformation or associated with other extracardiac anomalies. Untreated cases are at risk of developing pulmonary hypertension. We present a case of an 18-month-old female baby with a recurrent chest infection, central cyanosis, and echocardiographic features of the common atrium concurrent with atrioventricular canal defect and features of pulmonary hypertension.

Evaluation of mid-term outcomes of partial and intermediate atrioventricular canal defect surgery.

The risk factors for reoperation and mortality after partial and intermediate atrioventricular canal defect repair are unclear. This study assessed the mid-term outcomes and risk factors for reoperation and mortality after partial and intermediate atrioventricular canal defect surgery. Ninety-seven patients who underwent primary repair of intermediate (n = 45) or partial (n = 52) atrioventricular canal defect between 2005 and 2019 were included in this single-centre study. The median age was 5 years (2.7-8.9 years). The median follow-up time was 32 months (1.6-90.8 months). The estimated freedom from reoperation at 1, 5, and 10 years was 97%, 91%, and 73%, respectively.In multivariable analyses, post-operative left atrioventricular valve regurgitation of grade II or higher (odds ratio [OR]: 5.3, 95% confidence interval [CI]: 1.8-15.5, p = 0.01) and post-operative residual intracardiac shunt (OR: 11.6, 95% CI: 1.6-85.8, p = 0.02) were risk factors for reoperation.In multivariable analyses, perioperative reoperation (OR: 93.4, 95% CI: 3.9-218.7, p = 0.01) and the need for right atrioventricular valve repair (OR: 11.2, 95% CI: 1.0 - 123.3, p = 0.04) were risk factors for mortality. Mortality was higher in patients under 2.6 years of age. For patients undergoing repair of partial or intermediate atrioventricular canal defect, those with post-operative left atrioventricular valve regurgitation of grade II or higher and post-operative residual intracardiac shunt have an increased reoperation risk. Higher mortality can be expected after a perioperative reoperation, and in patients requiring right atrioventricular valve repair during the index procedure.

Haemodynamic monitoring after paediatric cardiac surgery using echocardiography and PiCCO.

Haemodynamic instability is common after surgical repair of CHDs in infants and children. Monitoring cardiac output in addition to traditional circulation parameters could improve the postoperative care of these patients. Echocardiography and transpulmonary thermodilution are the two most common methods for measuring cardiac output in infants. To compare the results of cardiac output measurements using echocardiography and a transpulmonary thermodilution setup after paediatric cardiac surgery. Forty children, scheduled for elective repair of a ventricular septal defect or of an atrio-ventricular septal defect using cardiopulmonary bypass, were enrolled in this prospective, observational study. Cardiac output was simultaneously measured using echocardiography and a commercially available transpulmonary thermodilution method (PiCCO™) at 18 h after the end of surgery. At 18 h after surgery, PiCCO™ gave a mean of 3.0% higher cardiac output than echocardiography. This difference was not statistically significant. 95% of the observations fell within -50.0 to 82.6%. The methods were found to have a good agreement on average, with no statistically significant difference between them. However, the spread of the results was large. It is questionable whether the methods can be used interchangeably in clinical practice.

Outcomes of Left Atrioventricular Valve Operation following Atrioventricular Septal Defect Repair

Left atrioventricular valve (LAVV) operation following repair of atrioventricular septal defects (AVSD) can be challenging. We sought to describe characteristics and outcomes of patients requiring LAVV operation. Retrospective review of AVSDs requiring LAVV operation between 2000-2020. Patients who experienced adverse events (AEs; defined as the need for a LAVV reoperation (repair or replacement) or death) were compared to patients without AEs. Freedom from adverse events was displayed using the Kaplan-Meier method. Reoperation and death were characterized in terms of cumulative incidence function, estimated using competing risk models. Of 843 patients with AVSD repaired, 59 (7.3%) required a LAVV operation and 7 (9%) valve replacement. A simple repair (cleft closure and/or annuloplasty) occurred in 26 (48.1%) and complex repair using multiple techniques in 28 (51.8%) cases. Eleven patients (20%) required further LAVV reoperation; 3 replacement of mechanical valve, 6 new valve replacement (2 Melody, 4 Mechanical) and 2 re-repair. The cumulative incidence of freedom from AE was 84.1% (75.0%, 94.2%), 78.3% (68.2%, 90.0%), 73.4% (62.2%, 86.7%), 69.7% (57.5%, 84.7%) at 1, 5, 10 and 15 years respectively. Cox univariable regression showed smaller weight (p=0.027) and early need for LAVV operation (p=0.02) were associated with AEs while cleft closure (p = 0.003) was protective against AEs. The estimated cumulative incidence of reoperation was higher in complex repairs (17.3% (7.8%, 38.7%) vs 0.5% (NA, NA) at 1 year. Greys p = 0.02). In a comparison of eras (2000-2009, 2010- 2020) there was no difference in AE (Greys p = 0.96). Adverse outcomes following LAVV reoperation remain common. Smaller infants, those requiring earlier reoperation and complex type repairs are at highest risk. Future studies should focus on which high risk LAVVs are more suited to early LAVV replacement.

Long-term outcomes of mitral valve repair in children.

Mitral Valve Disease in children presents unique challenges due to the wide range of associated pathologies and the complexities of pediatric cardiac anatomy. Mitral valve repair in this demographic is preferred over replacement due to the drawbacks associated with prosthetic valves in young patients, such as the need for long-term anticoagulation and issues with prosthetic size and growth. This retrospective study reviewed pediatric patients under 18 years who underwent mitral valve repair between January 2002 and December 2023. Exclusion criteria included patients with atrioventricular septal defects or single-ventricle physiology. Surgical outcomes were assessed using preoperative and postoperative transthoracic echocardiography, with follow-up data analyzed via Kaplan-Meier survival estimates. The study included 47 patients with a median age of 4 years. Surgical techniques varied based on the specific mitral valve pathology. The overall early mortality was 6.3%, and the one and ten-year survival rates were 93.6 ± 3.6% and 91.4 ± 4.1%, respectively. Most patients showed improved or stable postoperative cardiac function during a median follow-up of 105 months. Notably, the rate of freedom from re-operation at ten years was 85.1 ± 6.9%, highlighting the durability of the surgical interventions. Mitral valve repair in children demonstrates favorable long-term outcomes with low mortality and reoperation rates, particularly when performed at an older age to accommodate growth and avoid the complexities of smaller, more delicate cardiac structures. These findings suggest that mitral valve repair should be considered a viable and effective option for managing pediatric MVD, with a personalized approach essential for optimizing outcomes.

Left atrioventricular valve regurgitation repair with concomitant outflow obstruction release on repaired atrioventricular septal defect case

BackgroundLeft ventricular outflow tract stenosis and atrioventricular valve regurgitation are often problems encountered in adulthood after complete atrioventricular septal defect repair. The surgical approach and indications for managing long-term outcomes such as left atrioventricular valve regurgitation and left ventricular outflow tract stenosis after complete atrioventricular septal defect repair have been discussed.Case presentationA 23-year-old woman with intellectual disability was diagnosed with complete atrioventricular septal defect and underwent two-patch repair without cleft closure in childhood. Follow-up examination in adulthood demonstrated moderate left-sided atrioventricular valve regurgitation and left ventricular outflow tract stenosis with a circumferential ridge (peak velocity, 3.7 m/s; pressure gradient, 54 mmHg). Intraoperative findings showed a circumferential ridge under the aortic valve, and we removed the ridge. In addition, a cleft was present at the anterior leaflet, and we completely closed the cleft. Anticoagulation therapy was not initiated, and no embolic complications occurred. Follow-up echocardiography demonstrated no ridge under the aortic valve and only mild-range left AVVR.ConclusionsWe successfully performed surgical treatment without valve replacement or anticoagulation therapy in a patient with poor medical compliance. Delayed reoperation leads to degeneration of the valve structure and makes more difficult to repair. Atrioventricular valve regurgitation should be evaluated in combination with based on the etiology of the regurgitation especially cleft related or not, in addition to the dilatation annulus, cleft size, and depth of the leaflet coaptation depth, and associated other valve diseases.

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing

ObjectiveThis study conducted genetic testing and analysis on the fetal tissue of a terminated pregnancy to clarify the cause of the fetal abnormalities. MethodsA fetus with multiple malformations detected during mid-pregnancy was terminated. Trio whole exome sequencing (Trio-WES) was performed on the fetal tissue. The identified gene variants were verified from parents’ blood samples using Sanger sequencing. ResultsPrenatal ultrasound indicated that the fetus had an atrioventricular septal defect, thoracic narrowing, short and angulated long bones of the limbs, polydactyly of the hands, and right clubfoot. The high-throughput sequencing results showed that the fetus had a heterozygous splicing variant c.939+1G>A and a heterozygous frameshift deletion variant c.528delC (p. Ser177Alafs19) in the Ellis-van Creveld (EVC) gene. Sanger sequencing confirmed that the maternal variant c.939+1G>A and the paternal variant c.528delC (p. Ser177Alafs19) were the sources of the two EVC gene variants in the fetus. Combined with the genetic analysis and prenatal ultrasound findings, this family was diagnosed with Ellis-van Creveld syndrome. ConclusionTwo novel causative genetic variants for EVC syndrome were identified. The findings would expand the mutational spectrum of the EVC gene and demonstrate that whole-exome sequencing is a powerful tool for the clinical diagnosis of genetically heterogeneous diseases.

Missense mutations in the CITED2 gene may contribute to congenital heart disease

BackgroundCongenital heart disease (CHD) is a lifelong abnormality present from birth. Multiple studies have shown that mutations in genes involved in heart development could cause congenital heart disease. The CITED2 gene works as a transcription factor in the hypoxic pathway for the development of the heart. Therefore, five CHD types, ventricular septal defect, atrial septal defect, atrioventricular septal defect, tetralogy of fallot, and patent ductus arteriosus, were evaluated by conducting a targeted single nucleotide polymorphism (SNP) analysis of the CITED2 gene variant rs375393125 (T > C). This study aimed to identify the association of CITED2 gene mutations in CHD patients.MethodsThree hundred fifty samples, 250 from patients and 100 from controls, were collected for this genetic analysis. Allele-specific PCR and gel electrophoresis were used to identify the target missense mutations. The genotypic results of the CHDs were further validated through Sanger sequencing.ResultsThe frequency of the homozygous mutant (CC) in CHD patients was 48.4%, and of the heterozygous mutant (TC) genotype was 11.4%; these percentages are higher than controls (1%). The control samples had only one heterozygous TC and no homozygous CC genotype. The chi-square value was obtained at 103.9 with a probability of 0.05, more significant than the significance value of 21.03. The odds ratio was 43.7, which is > 1. The calculated value of ANOVA was 11.6, which was more significant than the F critical value of 3.7. As a result of sequencing, the mutant sample of each selected CHD type was found heterozygous or homozygous, and the results were like those obtained through conventional PCR.ConclusionThe samples of CHD patients showed mutations. Therefore, the CITED2 gene SNP might be associated with CHD.

Complete atrioventricular canal in a dog-sounds like a final judgment but is it actually one? A case report.

Congenital heart disease (CHD) is an important subset of all cardiovascular diseases in dogs. Among them, there are a number of other less commonly described congenital malformations. One of these is the atrioventricular canal, which involves a defect that has several phenotypes. This report details a case of a complete atrioventricular canal (cAVC) defect. Using Rastelli's classification scheme, the diagnosis of a type-A cAVC defect was based on two-dimensional, contrast, and color Doppler echocardiography. Despite a severe defect that resulted in the atypical anatomy of the atrioventricular apparatus, as well as significant hemodynamic changes in the heart, the affected dog remained asymptomatic throughout the 48-month follow-up period. Due to its stable clinical condition, the decision was made not to begin pharmacological therapy. As this defect is rare in dogs, there are limited data in the literature on this condition. Therefore, in clinical practice, the management and monitoring of the patient may pose difficulties. Due to such limited data, it can be very difficult to provide a prognosis. For the above reasons, we hope that the following case will contribute valuable information for the monitoring of this kind of CHD.

Fetal Cardiovascular Magnetic Resonance Feature Tracking Myocardial Strain Analysis in Congenital Heart Disease

BackgroundCardiovascular magnetic resonance (CMR) is an emerging imaging modality for assessing anatomy and function of the fetal heart in congenital heart disease (CHD). This study aimed to evaluate myocardial strain using fetal CMR feature tracking (FT) in different subtypes of CHD. MethodsFetal CMR FT analysis was retrospectively performed on four-chamber cine images acquired with Doppler US gating at 3 Tesla. Left ventricular (LV) global longitudinal strain (GLS), LV global radial strain (GRS), LV global longitudinal systolic strain rate (SR), and right ventricular (RV) GLS were quantified using a dedicated software optimized for fetal strain analysis. Analysis was performed in normal fetuses and different CHD subtypes (d-Transposition of the great arteries (dTGA), hypoplastic left heart syndrome (HLHS), coarctation of the aorta (CoA), tetralogy of Fallot (TOF), RV-dominant atrioventricular septal defect (AVSD), and critical pulmonary stenosis or atresia (PS/PA)). Analyses of variance (ANOVA) with Tukey post-hoc test was used for group comparisons. ResultsA total of 60 fetuses were analyzed (8/60 (13%) without CHD, 52/60 (87%) with CHD). Myocardial strain was successfully assessed in 113/120 ventricles (94%). Compared to controls, LV GLS was significantly reduced in fetuses with HLHS (-18.6±2.7% vs. -6.2±5.6%; p<0.001) and RV-dominant AVSD (-18.6±2.7% vs. -7.7±5.0%; p=0.003) and higher in fetuses with CoA (-18.6±2.7% vs. -25.0±4.3%; p=0.038). LV GRS was significantly reduced in fetuses with HLHS (25.7±7.5% vs. 11.4±9.7%; p=0.024). Compared to controls, RV GRS was significantly reduced in fetuses with PS/PA (-16.1±2.8% vs. -8.3±4.2%; p=0.007). Across all strain parameters, no significant differences were present between controls and fetuses diagnosed with dTGA and TOF. ConclusionsFetal myocardial strain assessment with CMR FT in CHD is feasible. Distinct differences are present between various types of CHD, suggesting potential implications for clinical decision-making and prognostication in fetal CHD.

Association of Cardiac Anomalies in Pediatric Dextrocardia: A CT Angiographic Study

Background: Dextrocardia is an intrinsic cardiac malposition where the base-apex axis is oriented toward the right side. Diagnosing these abnormalities is crucial for the appropriate treatment of associated anomalies. Advances in CT angiography techniques have enabled a comprehensive study of cardiovascular structures. Objectives: This study aims to identify the association of cardiac anomalies in various types of dextrocardia. Methods: Patients with a confirmed diagnosis of dextrocardia who underwent contrast-enhanced cardiac CT angiography were included in the study. All patients had previously undergone echocardiography with equivocal findings. The type of dextrocardia (based on the Arcilla and Gasul classification), along with septal, atrial, ventricular, aortic, pulmonary artery and vein, systemic veins, and non-cardiac anomalies, were evaluated. Results: Thirty-five cases of dextrocardia (18 males and 17 females) were included in this study, with a mean patient age of 24 months. Among these, 23 cases were classified as type 3, 8 as type 1, and 4 as type 2. The most common anomalies across all types were septal defects, with ventricular septal defects being the most prevalent in type 1, while atrioventricular septal defects (AVSD) were the most common in types 2 and 3. In type 3, left transposition of the great arteries (L-TGA), right isomerism, and AVSD were significantly more frequent, occurring concurrently in 65.2% of patients. Additionally, more than 50% of the cases had a concomitant pulmonary artery anomaly. Conclusions: A correlation may exist between the occurrence of AVSD, L-TGA, right isomerism, and pulmonary artery anomalies in type 3 dextrocardia.

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.

Arrhythmias in congenital heart disease: A nationwide cohort study

BackgroundAs more patients with congenital heart disease (CHD) survive into adulthood, the population of adults with CHD is expanding. This trend is accompanied by an increasing incidence of complications, including arrhythmias. However, the long-term risk of arrhythmias remains sparsely investigated. MethodsIn this observational cohort study, all Danish patients with CHD born from 1977 to 2024 were identified using registries and followed from date of birth until the occurrence of arrhythmia, emigration, death, or end of follow-up (March 2024). The risk of arrhythmias was assessed among patients with CHD and compared to age- and sex-matched controls from the background population. ResultsA total of 45,820 patients with CHD (50.9% men) were identified and matched with 183,280 controls from the background population. During a median follow-up of 21.5 years, 2.6% of patients with CHD and 0.2% of controls developed arrhythmias—corresponding to incidence rates (IR) of 1.2 (95% CI 1.2-1.3) and 0.1 (95% CI 0.1-0.1) per 1,000 PY, respectively, and a hazard ratio (HR) of 16.4 (95% CI 14.4-18.7). The most common arrhythmias in patients with CHD were advanced atrioventricular block (IR 0.4 [95% CI 0.4-0.4] per 1,000 PY) and atrial flutter/fibrillation (IR 0.5 [95% CI 0.5-0.6] per 1,000 PY). Patients with malformations of the heart chambers, transposition of the great arteries, tetralogy of Fallot, and atrioventricular septal defect were at the highest risk of arrhythmias. Moreover, the risk of arrhythmias among those with ASD was not negligible. In patients with CHD, arrhythmia was associated with a significantly higher risk of death (HR of 6.9 [95% CI 5.9-8.1]). ConclusionsPatients with CHD are at significantly higher risk of arrhythmias than the background population, and those with complex CHD are at particularly high risk. In patients with CHD, arrhythmia is associated with an increased risk of death. Additional studies are warranted to investigate how we can improve the diagnosis and management of arrhythmias in CHD.

Impact of Age and of the Patent Ductus Arteriosus on Pulmonary Hemodynamics in Children with Complete Atrioventricular Septal Defect.

Complete atrioventricular septal defect (CAVSD) can lead to the development of pulmonary obstructive vascular disease due to high pulmonary blood flow and pressures. This study aimed to evaluate the changes in pulmonary hemodynamics with aging and with patent ductus arteriosus (PDA) in children with CAVSD. We retrospectively evaluated 137 children (94% with trisomy 21, median age of 195 (25-2963) days, 58.4% female) with CASVD referred to cardiac catheterization from January 2000 to December 2020. Those with associated congenital heart disease, except PDA, had been excluded. They were divided into three age terciles (T1, T2, and T3). Aging was directly associated with higher mean (T1: 34.2 ± 9.1; T2: 37.1 ± 5.8; T3: 42 ± 10.6 mmHg, p < 0.001) and diastolic (T1: 19.4 ± 5.3; T2 21.6 ± 5.0; T3: 26.0 ± 9.5 mmHg, P < 0.001) pulmonary arterial pressures, and with higher pulmonary vascular resistance (T1: 3.24 ± 1.69, T2: 3.47 ± 1.19; T3: 4.49 ± 3.91 Wu.m2, p = 0.023). This resulted in a loss of eligibility for anatomical correction, which became evident only after 300 days of age. PDA was associated with a higher mean (37.2 [35.9; 38.5] vs. 41.3 [37.5; 45.0] mmHg, p = 0.049) and diastolic (21.7 [20.7; 22.6] vs. 26.4 [24.1; 29.0] mmHg, p = 0.001) pulmonary pressure, and resistor-compliance time (0.28 [0.26; 0.29] vs. 0.36 [0.31; 0.40], p = 0.001) after adjusting for age and sex. In children with CAVSD, aging was associated with worsening of pulmonary vascular hemodynamics, particularly when PDA was associated, resulting in loss of eligibility for anatomical correction after 10 months of age as the first surgical option.

Health comorbidities in children with down syndrome (DS) at Dr. Sardjito General Hospital, Yogyakarta

Down syndrome (DS) is a disease caused by trisomy of chromosome 21. The phenotype in DS leads to manifestations in several organ systems. This study aimed to identify the pattern of comorbidities in DS patients. It was a single-center, cross-sectional study at Dr. Sardjito General Hospital, Yogyakarta. Medical records of pediatric patients with DS from a period of January 2022 to May 2023 were included. Descriptive analysis was performed to demonstrate demographic and clinical characteristics. A total of 355 pediatric patients with DS were found at Dr. Sardjito General Hospital and the majority were male (196 children or 55.2%). As much as 339 children (95.49%) had comorbidities. The highest comorbidity was congenital heart disease (230 patients or 67.84%) in specifics were atrial septal defect (41 patients or 12.39%), atrioventricular septal defect (29 patients or 8.17%), and patent ductus arteriosus (28 patients or 7.88%). The second highest comorbidity was endocrine system disorders (102 patients or 30.09%), with 100 patients (28.16%) children suffering hypothyroidism. The number of children who had one comorbidity was 248 patients (69.86%), 74 patients (20.48%) had two comorbidities, and 17 patients (4.79%) had three or more comorbidities. The highest co-prevalence of the two comorbidities was congenital heart disease and endocrine system disorders (36 patients or 10.14%). The highest co-prevalence of 3 or more comorbidities was a combination of congenital heart disease, visual impairment, and hearing impairment (6 patients or 1.69%). In conclusion, 95.49% of children with DS have comorbidities. The most common comorbidity was heart defects. About 25.63% of patients had more than one comorbidity. Children with DS who have comorbidities require more attention to prevent complications and to reduce morbidity.

Minimally Invasive Surgical Repair of Simple Congenital Heart Defects Using the Right Vertical Infra-Axillary Thoracotomy Approach.

To evaluate the safety and efficacy of surgical repair for patients diagnosed with simple congenital heart defects (CHD) using the minimally invasive right vertical infra-axillary minithoracotomy (RVIAT) approach. We retrospectively reviewed the clinical data of consecutive patients who underwent minimally invasive RVIAT for repair of CHD between August 2019 and August 2022. There were 382 patients who underwent 8 primary procedures and were included in this study. The median age of the patients was 16.2 (interquartile range [IQR], 7.2 to 41.9) months, and the median weight of the patients was 8.8 (IQR, 6.5 to 14) kg. The preoperative diagnoses were as follows: ventricular septal defect, atrial septal defect, partial anomalous pulmonary venous return, partial atrioventricular septal defect, cor triatriatum, complete atrioventricular septal defect, and myxoma. The mean aortic cross-clamp time, bypass time, and operation time were 45.4 ± 19.3 min, 65.6 ± 23.1 min, and 154.5 ± 29.7 min, respectively. There was no in-hospital mortality or conversion to median sternotomy. Two patients (0.5%) required early reoperation; 1 due to postoperative bleeding and 1 for permanent pacemaker implantation. Other complications included trivial residual shunts (23 of 382, 6%), pleural effusion (3 of 382, 0.8%), pneumothorax (0.8%), and wound infection (4 of 382, 1%). There were 2 late noncardiac deaths. Late reoperation was performed on 1 patient with progressive aortic valve regurgitation who required aortic valvuloplasty. RVIAT is a minimally invasive approach that can be safely performed on patients with simple CHDs. RVIAT may be a good alternative approach for median sternotomy and cardiac intervention.

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study

Background and objectivesCongenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities and the clinical utility of chromosomal microarray analysis (CMA) in fetuses with different types of CHD, aiming to assist genetic counseling and clinical decision-making.MethodsIn this study, 642 fetuses with CHD were enrolled from a single center over a six-year period (2017–2022). Both conventional karyotyping and CMA were performed simultaneously on these fetuses.ResultsThe diagnostic yield of CMA in fetuses with CHD in our study was 15.3% (98/642). Our findings revealed a significant increase in the diagnostic yield of CMA compared to karyotyping in fetuses with CHD. Among CHD subgroups, the diagnostic yields were high in complex CHD (34.9%), conotruncal defects (28.6%), right ventricular outflow tract obstructive defects (RVOTO) (25.9%), atrioventricular septal defects (AVSD) (25.0%) and left ventricular outflow tract obstructive defects (LVOTO) (24.1%), while those in other CHD (10.6%) and septal defects (10.9%) were relatively low. The overall detection rate of clinically significant chromosomal abnormalities was significantly higher in the non-isolated CHD group compared to the isolated CHD group (33.1% vs. 9.9%, P < 0.0001). Interestingly, numerical chromosomal abnormalities were more likely to occur in the non-isolated CHD group than in the isolated CHD group (20.3% vs. 2.0%, P < 0.0001). The rate of termination of pregnancy (TOP)/Still birth in the non-isolated CHD group was significantly higher than that in the isolated CHD group (40.5% vs. 20.6%, P < 0.0001). Compared to the isolated CHD group, the detection rate of clinically significant chromosomal abnormalities was significantly higher in the group of CHD with soft markers (35.6% vs. 9.9%, P < 0.0001) and in the group of CHD with additional structural anomalies (36.1% vs. 9.9%, P < 0.0001).ConclusionsCMA is a reliable and high-resolution technique that should be recommended as the front-line test for prenatal diagnosis of fetuses with CHD. The prevalence of chromosomal abnormalities varies greatly among different subgroups of CHD, and special attention should be given to prenatal non-isolated cases of CHD, especially those accompanied by additional structural anomalies or soft markers.

Racial Disparities in Maternal Exposure to Ambient Air Pollution During Pregnancy and Prevalence of Congenital Heart Defects.

Air pollution may be a potential cause of congenital heart defects (CHDs), but racial disparities in this association are unexplored. We conducted a statewide population-based cohort study using North Carolina birth data from 2003-2015 (N=1,225,285) to investigate the relationship between air pollution and CHDs (specifically pulmonary valve atresia/stenosis, Tetralogy of Fallot (TOF), and atrioventricular septal defect (AVSD)). Maternal exposure to particulate matter ≤2.5 micrometers in diameter (PM2.5) and ozone during weeks 3-9 of pregnancy were estimated using the Environmental Protection Agency's Downscaler Model. Single- and co-pollutant log-binomial models were created for the entire population and stratified by race to investigate disparities. Positive associations between PM2.5 and CHDs were observed. An increasing concentration-response association was found for PM2.5 and TOF in adjusted, co-pollutant models (Quartile 4 prevalence ratio: 1.46; 95% CI: 1.06, 2.03). Differences in the effect of PM2.5 on CHD prevalence were seen in some models stratified by race, although clear exposure-prevalence gradients were not evident. Positive associations were also seen in adjusted, co-pollutant models of ozone and AVSD. Study results suggest that prenatal PM2.5 and ozone exposure may increase the prevalence of certain CHDs. A consistent pattern of differences in association by race/ethnicity was not apparent.