Types Of Congenital Heart Disease Research Articles

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.

Impact of postoperative necrotizing enterocolitis after neonatal cardiac surgery on neurodevelopmental outcome at 1 year of age

ObjectivesWe analyzed the impact of postoperative necrotizing enterocolitis (NEC) after cardiac surgery in neonatal age on neurodevelopmental (ND) outcome at 1 year of age.MethodsUsing data from the Swiss Neurodevelopmental Outcome Registry for Children with Congenital Heart Disease (ORCHID), we analyzed perioperative variables including postoperative NEC (Bell's stage ≥2) and 1-year ND outcome (Bayley III).ResultsThe included patients (n = 101) had congenital heart disease (CHD), categorized as follows: 77 underwent biventricular repair for CHD with two functional chambers, 22 underwent staged palliation until the Fontan procedure for CHD with single ventricle physiology (n = 22), or 4 underwent single ventricle palliation or biventricular repair for borderline CHD (n = 4). Neonatal cardiopulmonary bypass (CBP) surgery was performed at a median age (IQR) of 8 (6) days. NEC occurred in 16 patients. Intensive care unit (ICU) length of stay (LOS) and the total duration of the hospitalization were longer in children with NEC than those in others (14 with vs. 8 days without NEC, p &amp;lt; 0.05; 49 with vs. 32 days without NEC, p &amp;lt; 0.05). The Bayley III scores of the analyzed patients determined at an age of 11.5 ± 1.5 months showed cognitive (CCS) (102.2 ± 15.0) and language scores (LCS) (93.8 ± 13.1) in the normal range and motor composite scores (MCS) (88.7 ± 15.9) in the low-normal range. After adjusting for socioeconomic status and CHD type, patients with NEC had lower CCS scores [β = −11.2 (SE 5.6), p = 0.049]. Using a cumulative risk score including NEC, we found a higher risk score to be associated with both lower CCS [β = −2.8 (SE 1.3), p = 0.030] and lower MCS [β = −3.20 (SE 1.3), p = 0.016].ConclusionsPostoperative NEC is associated with longer ICU and hospital LOS and contributes together with other complications to impaired ND outcome at 1 year of age. In the future, national and international patient registries may provide the opportunity to analyze large cohorts and better identify the impact of modifiable perioperative risk factors on ND outcome. Clinical Trial RegistrationClinicalTrials.gov identifier: NCT05996211.

Effects of Aerobic Exercise on Cardiopulmonary Function in Postoperative Patients with Congenital Heart Disease: A Meta-analysis.

This meta-analysis aimed to evaluate the impact of aerobic exercise on Peak VO2 (Oxygen Consumption) in postoperative patients with congenital heart disease (CHD). Besides this, we also tried to discover whether the improvement was influenced by patient ages, modes of supervision, types of exercise, the total dose of exercise, intervention periods, and types of CHD. Following the Population Intervention Comparison Outcome Study Design (PICOS) principle, a comprehensive search of the PubMed, Web of Science, Embase and Cochrane Library databases was conducted for randomized controlled trials (RCTs) evaluating the intervention effects of aerobic exercise on cardiopulmonary function in postoperative CHD patients until December 2023. This meta-analysis and publication bias tests were conducted using Stata 17.0, and the mean differences (MDs) with 95% confidence intervals (CIs) were used as effect sizes in statistics. A total of 15 RCTs (762 cases) were included in this meta-analysis, with 407 cases in the experimental group and 355 cases in the control group. Meta-analysis showed that aerobic exercise had a positive effect on Peak VO2 in postoperative CHD patients (MD = 2.14, 95% CI (1.34, 2.94), p 0.00001, I2 = 36%). The analysis of subgroups showed that intervention effects of aerobic exercise were superior to the control group when patients were 18 years old (MD = 2.53, p 0.00001), 18 years old (MD = 1.63, p = 0.01), under supervision (MD = 2.23, p 0.00001), unsupervised (MD = 2.06, p 0.00400), performing aerobic exercise (MD = 1.87, p = 0.0003), performing aerobic exercise combined with resistance training (MD = 2.57, p 0.00010), with a total dose of exercise 1440 minutes (MD = 2.45, p 0.00010), with the intervention period of 10-12 weeks (MD = 2.31, p 0.00001), with that 12 weeks (MD = 1.97, p = 0.00300), or with mixed types of CHD (MD = 2.34, p 0.00001). This meta-analysis did not deduct points for limitations, inconsistency, indirectness, imprecision, or publication bias, so the quality of evidence was graded as high. Aerobic exercise has a significantly positive impact on improving Peak VO2 in postoperative CHD patients. Moreover, it was found that for patients aged 18 and above, supervised aerobic exercise combined with resistance training, implemented for 10-12 weeks with a total dose of exercise 1440 minutes, had a better intervention effect on Peak VO2. This finding provided evidence-based medicine for the exercise rehabilitation of postoperative CHD patients, and explored the optimal exercise prescription for clinical practice as well. Registered on INPLASY No.202440016 (https://inplasy.com).

Cardiovascular malformation associated with esophageal atresia

Abstract Background Congenital heart disease (CHD) is the commonest abnormality associated with esophageal atresia (EA). EA is a rare congenital malformation occurring in 3-4 in 10,000 births, in 87% occurs along with a distal tracheoesophageal fistula (TEF). The coexistence of a cardiac malformation and in addition, prematurity can be challenging and affects the further treatment and quality of life (QOL) of the child and family. Knowledge of the anatomical type and physiological consequences of CHD allows a well-coordinated treatment plan. Purpose The aim of this paper is to investigate whether the presence of underlying associated malformations, disease-specific problems and prematurity would have a considerable influence on the family of a child after surgical repair of EA. Methods We used a crossed-sectional questionnaire study. The impact of EA was assessed using an Authors-Designed Questionnaire (ADQ) to collect medical and sociodemographic background data (gestational week (HBD), comorbidities, type of EA, according to the Gross classification) as well as standardized questionnaire: the PedsQL™ Family Impact Module (PedsQL-FIM). Results Of the 76 children born with EA/TEF included in this study, 26% had a vascular malformation. Mean age was 5.3 years (SD = 3.7 years). Cardiovascular malformation associated with EA significantly (p=0.037) affects the functioning of the family in the emotional domain (FIM – ED). The QOL (p &amp;lt; 0,034) of children born before 37th HBD is lower that children born in term The presence of concomitant anomalies does affect the overall generic QoL. No statistical correlation was found between the type of anomaly (with/without TEF) and patients' QoL. Conclusions Cardiovascular malformation and prematurity significantly affect child’s QOL and the functioning of the family with EA. Patients who have undergone EA treatment require specialist outpatient care, not only in the first years of life, but also in adolescence and adulthood.

Congenital heart disease: types, pathophysiology, diagnosis, and treatment options.

Congenital heart disease (CHD) is a structural abnormality of the heart and/or great vessels and patients with CHD are at an increased risks of various morbidities throughout their lives and reduced long-term survival. Eventually, CHD may result in various complications including heart failure, arrhythmias, stroke, pneumonia, and sudden death. Unfortunately, the exact etiology and pathophysiology of some CHD remain unclear. Although the quality of life and prognosis of patients with CHD have significantly improved following technological advancement, the influence of CHD is lifelong, especially in patients with complicated CHD. Thus, the management of CHD remains a challenge due to its high prevalence. Finally, there are some disagreements on CHD among international guidelines. In this review, we provide an update of the pathophysiology, diagnosis, and treatment in most common type of CHD, including patent foramen ovale, atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductus arteriosus, coarctation of the aorta, transposition of the great arteries, congenitally corrected transposition of the great arteries, coronary anomalies, left and right ventricular outflow tract obstruction, tetralogy of Fallot and Ebstein anomaly. In particular, we focus on what is known and what is unknown in these areas, aiming to improve the current understanding of various types of CHD.

Epidemiology of Congenital Heart Disease in Kazakhstan: Data from the Unified National Electronic Healthcare System 2014-2021

The aim of this study was to investigate the epidemiology of congenital heart disease (CHD) in Kazakhstan, using the data from the Unified National Electronic Healthcare System (UNEHS) for the period of 2014-2021. This retrospective cohort study included all patients diagnosed with CHD in Kazakhstan and registered in the UNEHS between January 2014 and December 2021. CHDs were defined based on ICD-10 codes Q20-Q26. Incidence, prevalence, and all-cause mortality rates were calculated per 100,000 population. Survival analysis was performed using Cox proportional hazards regression modeling and Kaplan-Meier method. The cohort consisted of 68,371 CHD patients, of whom 61,285 (89.6%) had a single CHD type, 40,767 (59.6%) were diagnosed before the age of 1 year, and 5,225 (7.6%) died over the study period. Incidence of CHD decreased from 64.6 to 47.3 cases per 100,000 population in males, and from 68.7 to 42.5 cases in females between 2014 and 2020. All-cause mortality rates per 100,000 population increased from 3.3 to 4.7 cases among males, and from 2.7 to 3.7 among females between 2014 and 2020. Survival analysis showed that in patients diagnosed with CHD before 1 year of age, risk of death was significantly associated with male sex (hazard ratio [HR] 1.17), multiple CHD types (HR 1.70), and no performed surgery (HR 0.57). In patients diagnosed with CHD after 1 year of age, risk factors were male sex (HR 1.65), multiple CHD types (HR 1.55), and no performed surgery (HR 1.82).

Tachyarrhythmias in congenital heart disease.

The prevalence of congenital heart disease (CHD) in adult patients has risen with advances in diagnostic and surgical techniques. Surgical modifications and hemodynamic changes increase the susceptibility to arrhythmias, impacting morbidity and mortality rates, with arrhythmias being the leading cause of hospitalizations and sudden deaths. Patients with CHD commonly experience both supraventricular and ventricular arrhythmias, with each CHD type associated with different arrhythmia patterns. Macroreentrant atrial tachycardias, particularly cavotricuspid isthmus-dependent flutter, are frequently reported. Ventricular arrhythmias, including monomorphic ventricular tachycardia, are prevalent, especially in patients with surgical scars. Pharmacological therapy involves antiarrhythmic and anticoagulant drugs, though data are limited with potential adverse effects. Catheter ablation is preferred, demanding meticulous procedural planning due to anatomical complexity and vascular access challenges. Combining imaging techniques with electroanatomic navigation enhances outcomes. However, risk stratification for sudden death remains challenging due to anatomical variability. This article practically reviews the most common tachyarrhythmias, treatment options, and clinical management strategies for these patients.

Deep learning-based differentiation of ventricular septal defect from tetralogy of Fallot in fetal echocardiography images.

Congenital heart disease (CHD) seriously affects children's health and quality of life, and early detection of CHD can reduce its impact on children's health. Tetralogy of Fallot (TOF) and ventricular septal defect (VSD) are two types of CHD that have similarities in echocardiography. However, TOF has worse diagnosis and higher morality than VSD. Accurate differentiation between VSD and TOF is highly important for administrative property treatment and improving affected factors' diagnoses. TOF and VSD were differentiated using convolutional neural network (CNN) models that classified fetal echocardiography images. We collected 105 fetal echocardiography images of TOF and 96 images of VSD. Four CNN models, namely, VGG19, ResNet50, NTS-Net, and the weakly supervised data augmentation network (WSDAN), were used to differentiate the two congenital heart diseases. The performance of these four models was compared based on sensitivity, accuracy, specificity, and AUC. VGG19 and ResNet50 performed similarly, with AUCs of 0.799 and 0.802, respectively. A superior performance was observed with NTS-Net and WSDAN specific for fine-grained image categorization tasks, with AUCs of 0.823 and 0.873, respectively. WSDAN had the best performance among all models tested. WSDAN exhibited the best performance in differentiating between TOF and VSD and is worthy of further clinical popularization.

Non-contrast free-breathing 2D CINE compressed SENSE T1-TFE cardiovascular MRI at 3T in sedated young children for assessment of congenital heart disease.

Cardiac MRI is a crucial tool for assessing congenital heart disease (CHD). However, its application remains challenging in young children when performed at 3T. The aim of this retrospective single center study was to compare a non-contrast free-breathing 2D CINE T1-weighted TFE-sequence with compressed sensing (FB 2D CINE CS T1-TFE) with 3D imaging for diagnostic accuracy of CHD, image quality, and vessel diameter measurements in sedated young children. FB 2D CINE CS T1-TFE was compared with a 3D non-contrast whole-heart sequence (3D WH) and 3D contrast-enhanced MR angiography (3D CE-MRA) at 3T in 37 CHD patients (20♂, 1.5±1.4 years). Two radiologists independently assessed image quality, type of CHD, and diagnostic confidence. Diameters and measures of contrast and sharpness of the aorta and pulmonary vessels were determined. A non-parametric multi-factorial approach was used to estimate diagnostic accuracy for the diagnosis of CHD. Linear mixed models were calculated to compare contrast and vessel sharpness. Krippendorff's alpha was determined to quantify vessel diameter agreement. FB 2D CINE CS T1-TFE was rated superior regarding image quality, diagnostic confidence, and diagnostic sensitivity for both intra- and extracardiac pathologies compared to 3D WH and 3D CE-MRA (all p<0.05). FB 2D CINE CS T1-TFE showed superior contrast and vessel sharpness (p<0.001) resulting in the highest proportion of measurable vessels (740/740; 100%), compared to 3D WH (530/620; 85.5%) and 3D CE-MRA (540/560; 96.4%). Regarding vessel diameter measurements, FB 2D CINE CS T1-TFE revealed the closest inter-reader agreement (Krippendorff's alpha: 0.94-0.96; 3D WH: 0.78-0.94; 3D CE-MRA: 0.76-0.93). FB 2D CINE CS T1-TFE demonstrates robustness at 3T and delivers high-quality diagnostic results to assess CHD in sedated young children. Its ability to function without contrast injection and respiratory compensation enhances ease of use and could encourage widespread adoption in clinical practice.

Maternal Gestational Diabetes Mellitus and Congenital Heart Disease in Offspring: A Meta-Analysis.

Maternal diabetes has been related to an increased risk of congenital heart disease (CHD) in offspring. However, inconsistent results were retrieved for studies evaluating the association between gestational diabetes mellitus (GDM) and CHD in offspring. We therefore performed a systematic review and meta-analysis for comprehensive investigation. Observational studies were identified by searching PubMed, Embase, and Web of Science according to the aim of the meta-analysis. A randomized-effects model was used to pool the data by incorporating the influence of potential heterogeneity. Twenty-three observational studies, involving 46953078 mother-child pairs, were available for the meta-analysis. Among them, 2131800 mothers were diagnosed as GDM and 214379 newborns had CHD. Overall, maternal GDM was associated with a higher incidence of CHD in offspring [odds ratio (OR): 1.32, 95% confidence interval (CI): 1.21 to 1.45, p<0.001; I2=62%]. Sensitivity analysis limited to studies with adjustment of maternal age and other potential confounding factors showed similar results (OR: 1.40, 95% CI: 1.30 to 1.51, p<0.001; I2=47%). Subgroup analysis suggested that the association between maternal GDM and CHD in offspring was not significantly affected by methods for diagnosis of GDM, methods for confirmation of CHD, or study quality scores (p for subgroup difference all>0.05). Subsequent analysis according to types of CHD showed that maternal GDM was associated with higher risks of atrial septal defect, ventricular septal defect, and Tetralogy of Fallot. Maternal GDM may be associated with a higher risk of CHD in offspring.

Intracardiac echocardiography in paediatric and congenital cardiac ablation shortens procedure duration and improves success without complications.

Common to adult electrophysiology studies (EPSs), intracardiac echocardiography (ICE) use in paediatric and congenital heart disease (CHD) EPS is limited. The purpose of this study was to assess the efficacy of ICE use and incidence of associated complications in paediatric and CHD EPS. This single-centre retrospective matched cohort study reviewed EPS between 2013 and 2022. Demographics, CHD type, and EPS data were collected. Intracardiac echocardiography cases were matched 1:1 to no ICE controls to assess differences in complications, ablation success, fluoroscopy exposure, procedure duration, and arrhythmia recurrence. Cases and controls with preceding EPS within 5 years were excluded. Intracardiac echocardiography cases without an appropriate match were excluded from comparative analyses but included in the descriptive cohort. We performed univariable and multivariable logistic regression to assess associations between variables and outcomes. A total of 335 EPS were reviewed, with ICE used in 196. The median age of ICE cases was 15 [interquartile range (IQR) 12-17; range 3-47] years, and median weight 57 [IQR 45-71; range 15-134] kg. There were no ICE-related acute or post-procedural complications. There were 139 ICE cases matched to no ICE controls. Baseline demographics and anthropometrics were similar between cases and controls. Fluoroscopy exposure (P = 0.02), procedure duration (P = 0.01), and arrhythmia recurrence (P = 0.01) were significantly lower in ICE cases. Intracardiac echocardiography in paediatric and CHD ablations is safe and reduces procedure duration, fluoroscopy exposure, and arrhythmia recurrence. However, not every arrhythmia substrate requires ICE use. Thoughtful selection will ensure the judicious and strategic application of ICE to enhance outcomes.

Outlet Ventricular Septal Defect: A Case Report on the Importance of Multi-Window Sonographic Assessment

Congenital heart disease (CHD) is the existence of structural heart problems since the formation of the heart prebirth. There are different categories of CHD, all having their own unique frequency and severity characteristics. One type of CHD is a ventricular septal defect (VSD), more specifically outlet VSD. A VSD is the most common congenital heart defect; however, their presentation can be quite complex. Color and spectral Doppler transthoracic echocardiography (TTE) are valuable tools used in the diagnosis of VSDs. The often-challenging presentation of these defects requires sonographers to confirm their existence through the parasternal long-axis, parasternal short-axis, apical four chamber, apical three chamber, and apical five chamber scanning windows. Although VSDs are the most common congenital heart defect, their wide-ranging uniqueness and location along the interventricular septum (IVS) to assess all areas along the IVS on all exams, specifically those that demonstrate left-to-right shunting. The objective of this case report was to stress the importance of multi-window assessment during the sonographer’s interrogation of outlet VSDs, due to the potential implications on adjacent anatomy and the potential for surgical intervention.

High-Sensitivity Cardiac Troponin and the Management of Congenital Heart Disease in Newborns and Infants.

Early cardiac interventions in newborns and infants suspected for congenital heart disease (CHD) decrease morbidity and mortality. After updating current evidence on the use of cardiac troponins (cTn) in the context of CHD for risk stratification at early ages, we discuss relevant issues, starting from the evidence that only the measurement of the cTnT form is useful in this population. In newborns/infants with CHD, the cTnT concentration increase is correlated with: (a) cardiac stress and hemodynamic parameters, but not with the type of CHD; (b) volume overload/right ventricular pressure overload; (c) postoperative hypoperfusion injury and mortality; and (d) effects of cardioprotective strategies. For infants with CHD, high-sensitivity cTnT (hs-cTnT) concentrations >25 ng/L are an independent predictor of poor outcomes. Transitioning from cTnT to hs-cTnT in newborns/infants improves the identification of: (a) physiopathological mechanisms and factors that increased hs-cTnT early after birth; (b) myocardial injury, even when subclinical; (c) identification of patients requiring immediate therapeutic interventions; and (d) 99th percentile upper reference limits (URLs). However, no reliable URLs are currently available to allow the detection of myocardial injury associated with CHD in newborns/infants. Additional data evaluating the clinical value of hs-cTnT in the risk stratification of newborns/infants with CHD who may suffer myocardial injury is needed. Validating the measurement, possibly in amniotic fluid samples, and improving the interpretation of hs-cTnT concentrations in the prenatal period, at birth and within 1 year of age are crucial to change CHD mortality/morbidity trends in the pediatric population.

Frontal Lobe Growth impairment in fetuses with congenital heart disease using Ultrasound parameters; A Comparative Cross-sectional study

Introduction and the Αim: 2D and 3D biometry measures can record the increased development of the fetal brain in the later part of gestation. The objective of this study is to determine whether or not the frontal brain regions of fetuses with congenital heart disease (CHD) are smaller than those of healthy controls. Patients and Μethods: The fetal Medicine unit of the Ain Shams University Maternity Hospital carried out a comparative cross-sectional study, including 140 normal fetuses and 140 fetuses with isolated CHD evaluated between 20 and 39 gestational weeks at our fetal medicine unit in the period November 2021–September 2023 Results: Our results showed the occipito-frontal diameter (OFD) and frontal antero-posterior diameter (FAPD) utilising ultrasonography. FAPD Mean±SD: 26.53 ± 10.44, OFD Mean±SD: 89.14 ± 28.34, and FAPD/OFD Mean±SD: 0.29 ± 0.05. The OFD Mean±SD was found to be 82.18 ± 18.42, the FAPD Mean±SD to be 31.68±6.58, and the FAPD/OFD Mean±SD to be 38.70±2.15. Our results showed that 0.7% of patients exhibited anomalies related to the central nervous system, such as dilated posterior fossa, vermis = 25 mm, and aberrant posterior cranial fossa. The percentage of those with a history of CHD was 3.9%.The history of CHD showed a statistically significant difference between the research groups. When examining comorbidities, surgical history, and the relationship between the other parameters and FAPD, OFD, and FAPD/OFD, there was no statistically significant difference between the groups under investigation, except for CNS abnormalities and gestational age. Conclusion, compared to normal fetuses, fetuses with CHD had shorter FAPDs and a lower FAPD/OFD ratio. Despite the fact that different types of CHD affect hemodynamics differently, there appears to be a common deficiency in the development of the frontal cortex.

Executive Function in Preschool Children with Congenital Heart Disease and Controls: The Role of a Cognitively Stimulating Home Environment

ObjectivesTo assess the relationships between (1) environmental and demographic factors and executive function (EF) in preschool children with congenital heart disease (CHD) and controls and (2) clinical and surgical risk factors and EF in preschool children with CHD. Study DesignAt 4-6 years of age, parents of children with CHD (n=51) and controls (n=124) completed the BRIEF-P questionnaire and the Cognitively Stimulating Parenting Scale (CSPS). Multivariable general linear modelling assessed the relationship between BRIEF-P composite scores (Inhibitory Self-Control Index [ISCI], Flexibility Index [FI], and Emergent Metacognition Index [EMI]) and group (CHD/control), sex, age at assessment, gestational age (GA), index of multiple deprivation (IMD) and CSPS scores. The relationships between CHD type, surgical factors and brain MRI injury rating (BIR) and ISCI, FI, and EMI scores were assessed. ResultsPresence of CHD, age at assessment, sex, and IMD were not associated with EF scores. Lower GA was associated with higher ISCI and FI scores, and age at assessment was associated with lower FI scores. Group significantly moderated the relationship between CSPS and EF, such that CSPS significantly predicted EF in children with CHD (ISCI: p=0.0004; FI: p=0.0015; EMI: p=0.0004) but not controls (ISCI: p=0.2727; FI: p=0.6185; EMI: p=0.3332). There were no significant relationships between EF scores and surgical factors, CHD type, or BIR. ConclusionsSupporting parents to provide a cognitively stimulating home environment may improve EF in children with CHD. The home and parenting environment should be considered when designing intervention studies aimed at improving EF in this patient group.

Prenatal Diagnosis of Congenital Heart Disease and Voluntary Termination of Pregnancy: A Population-Based Study in Qingdao, China.

The outcomes of fetuses with isolated congenital heart disease (CHD) diagnosed prenatally have not been investigated in a population-based study in China. This population-based study aimed to evaluate the rate of voluntary termination of pregnancy after the prenatal diagnosis of isolated CHD in Qingdao, China. This was a population-based retrospective study in which data were collected from all pregnant women in Qingdao (eastern China) from August 2018 to July 2020; fetal data, maternal data and data on pregnancy outcomes were extracted from medical records regarding prenatal diagnosis of CHD. The inclusion criteria were as follows: pregnant women or their husbands who had a household registration in Qingdao and who underwent regular prenatal screening in Qingdao. The exclusion criterion was the failure to sign an informed consent form. Counseling for all parents of fetuses with CHD was provided by a multidisciplinary team of experienced pediatric cardiologists, obstetricians, geneticists, etc. According to the type and severity of CHD, the pregnancy termination rate was analyzed. Among the 126,843 pregnant women, 1299 fetuses with a prenatal diagnosis of CHD were included in the study. Among the included fetuses, 1075 were diagnosed with isolated CHD, and the overall pregnancy termination rate was 22.8%. Termination rates varied according to the complexity of CHD (low complexity vs moderate complexity, P=0.000; low complexity vs high complexity, P=0.000; moderate complexity vs high complexity, P=0.000), with rates of 6.0% for low complexity, 54.2% for moderate complexity, and 99.1% for high complexity. The decision to terminate the pregnancy in cases of isolated CHD was unrelated to maternal age (P=0.091) but was related to gestational age (p=0.000). In Qingdao, 99.1% of parents whose fetuses were diagnosed with isolated high-complexity CHD chose to voluntarily terminate the pregnancy. The pregnancy termination rate increased with increasing complexity of prenatally diagnosed CHD.

Association between type of congenital heart disease with child growth and development status: A cross-sectional study in Medan, Indonesia.

Congenital heart disease (CHD) is a congenital disorder primarily affecting newborns and children. Children with CHD have a greater risk of experiencing growth delays or disorders compared to healthy children. CHD also affects various aspects of a child's development. The aim of this study was to determine the association of CHD types (cyanotic and acyanotic) with the growth and development status of children. A cross-sectional study was conducted among CHD patients at a national reference hospital in Sumatra, H. Adam Malik General Hospital in Medan, Indonesia. The children's growth status was assessed using the WHO growth chart, and the developmental condition was evaluated through the Denver Developmental Screening Test-II. Chi-squared test and Fisher's exact test were used to assess the association between the type of CHD with growth and development status in children. Using a consecutive sampling method, a total of 53 individuals were included in this study. Almost half of CHD patients (48.1%) were within the age group of 0-2 years and more than half (61.1%) were girls. Acyanotic CHD (74.1%) was more prevalent than cyanotic CHD (25.9%), with ventricular septum defect (VSD) as the most common diagnosis. A total of 37% of children with CHD suffered from malnutrition, whereas the remaining 62.9% had good nutrition. The Denver Developmental Screening Test-II indicated that 81.4% of the children were normal, whereas 18.5% had developmental disorders. Our data suggested a significant association between cyanotic CHD and poor growth status in children based on weight-for-age, weight-for-length, and body mass index (BMI)-for-age. However, there was no association between the type of CHD and developmental status in children. This study highlights that the type of CHD is significantly associated with the growth status of children, but not with their developmental status.

Transcriptome studies of congenital heart diseases: identifying current gaps and therapeutic frontiers.

Congenital heart disease (CHD) are genetically complex and comprise a wide range of structural defects that often predispose to - early heart failure, a common cause of neonatal morbidity and mortality. Transcriptome studies of CHD in human pediatric patients indicated a broad spectrum of diverse molecular signatures across various types of CHD. In order to advance research on congenital heart diseases (CHDs), we conducted a detailed review of transcriptome studies on this topic. Our analysis identified gaps in the literature, with a particular focus on the cardiac transcriptome signatures found in various biological specimens across different types of CHDs. In addition to translational studies involving human subjects, we also examined transcriptomic analyses of CHDs in a range of model systems, including iPSCs and animal models. We concluded that RNA-seq technology has revolutionized medical research and many of the discoveries from CHD transcriptome studies draw attention to biological pathways that concurrently open the door to a better understanding of cardiac development and related therapeutic avenue. While some crucial impediments to perfectly studying CHDs in this context remain obtaining pediatric cardiac tissue samples, phenotypic variation, and the lack of anatomical/spatial context with model systems. Combining model systems, RNA-seq technology, and integrating algorithms for analyzing transcriptomic data at both single-cell and high throughput spatial resolution is expected to continue uncovering unique biological pathways that are perturbed in CHDs, thus facilitating the development of novel therapy for congenital heart disease.

Longitudinal development of central SBP in children with congenital heart disease.

Central SBP (cSBP) was shown to be increased already in children with congenital heart disease (CHD). However, its development over time has not yet been investigated. The aim of this study was to evaluate the natural course of cSBP over time from longitudinal assessment in children with CHD. In this longitudinal study, 306 children and adolescents (11.3 ± 2.9 years, 34% girls) with various CHD were prospectively examined from July 2014 to May 2022. Over a mean follow-up length of 30.1 ± 18.9 months, 467 follow-up assessments have been conducted. cSBP was noninvasively assessed by oscillometric measurement via Mobil-O-Graph. A linear mixed effect model was performed to examine the course of cSBP. cSBP increased significantly over time by 1.22 mmHg per year of age (P < 0.001). The longitudinal increase in cSBP over time remained significant when including sex (b = 0.68, P < 0.001), BMI (b = 1.12, P < 0.001), hypertensive medication (b = 1.13, P < 0.001), disease severity (b = 1.04, P < 0.001), and CHD type (b = 3.74, P = 0.03) in the model. Patients with transposition of the great arteries (TGA) after arterial switch had a significantly higher cSBP increase over time (b = 1.78, P < 0.001). The longitudinal cSBP increase was significantly higher in obese CHD children (b = 2.52, P = 0.005) and in boys (b = 0.85, P < 0.001). This study shows a longitudinal increase in cSBP in children with CHD. Whether observed trajectories of cSBP are normal or abnormal needs to be investigated in further studies. Monitoring of the vascular function with a special focus on patients with TGA and obese CHD children seems indicated.

The Value of Fetal Echocardiography for Early Detection of Congenital Heart Defects: A Report of our Experience in a Great Referral Heart Center in Iran

Background: Prenatal diagnosis of cardiac defects in fetus is of paramount importance to enable a better monitoring of heart defects and to allow planning a proper management. We reported our experience on fetal heart echocardiography in a great referral heart center in Iran with the approach to assessment of the diagnostic value of this tool for detecting Congenital Heart Diseases (CHDs). Methods: This retrospective cohort study included 234 pregnant women attended at a great referral heart center in Tehran, Iran between 2012 and 2016 for heart abnormalities screening. All women were evaluated by trans-abdominal fetal echocardiography from 12 weeks of gestation to term and after birth. Results: Fetal echocardiography showed different types of CHDs in 5.9%. CHDs detected in 9.9% of neonates by echocardiography after birth. The most common heart abnormalities detected was VSD in 4.3%. Considering echocardiography findings after birth as the reference, fetal echocardiography had a sensitivity of 92.8%, a specificity of 66.6%, a positive predictive value of 59.8%, a negative predictive value of 86.6%, and an accuracy of 84.1% for detection of heart defects. Conclusion: Fetal heart echocardiography is a sensitive tool for detection of CHDs, but its specificity is moderate.