Search Results (922)

Breakthroughs in surgical and medical techniques have significantly improved outcomes for children with congenital heart disease (CHD), but research continues to address the ongoing challenge of organ dysfunction after surgery, particularly in neonates and infants. Our study explored circular RNAs (circRNAs) within plasma-derived extracellular vesicles (EVs) in neonates and infants undergoing CHD surgery. Post-surgery EV circRNAs showed dramatic expression changes between organ dysfunction (OD) and control groups. Tissue injury-related pathways were consistent across pre- and post-surgery in OD. The top two significant predicted tissue sources of these circRNAs originated from the respiratory system, aligning with the fact that all patients in the OD arm experienced respiratory dysfunction. Five of these circRNAs, namely circ-CELSR1, circ-PLXNA1, circ-OBSL1, circ-DAB2IP, and circ-KANK1, significantly correlated with PELOD (Pediatric Logistic Organ Dysfunction) score and demonstrated high performance (AUC = 0.95), supporting the potential of circRNAs as prognostic markers. These findings pave the way for EV circRNAs as promising tools for managing post-surgical organ dysfunction and potentially guiding therapeutic strategies in children with CHD. Full article

Background: The angiotensin-converting enzyme inhibitor (ACEI) enalapril is often administered to infants and young children with heart failure (HF) in various dosing regimens and formulations not adapted for their age. Methods: This prospective, two-center, open-label 8-week study evaluated an age-appropriate formulation of orodispersible minitablets (ODMTs) of enalapril (0.25 mg and 1 mg) in children aged 0 to 6 years with HF due to congenital heart disease. An age/weight-based dosing schedule was followed. Measures of echocardiographic parameters, blood pressure, heart rate, modified Ross score, and biochemistry were obtained over the 8-week period. The following two groups were assessed: ACEI-naïve and ACEI-pretreated patients. Results: In total, 53 children (age range of 0.05 to 4.8 years) were enrolled and 29 were ACEI-naïve. The average enalapril dose was 0.098 mg/kg (0.06–0.17 mg/kg) in the naïve group and 0.15 mg/kg (0.07–0.3 mg/kg) in pretreated patients. After 8 weeks, the modified Ross score and left ventricular diastolic dimension (LVD) z-score showed a significant decrease in both groups (p < 0.005). During 8 weeks follow-up, there were no difference in the z-scores for the systolic blood pressure (p = 0.071) or heart rate (p = 0.146). Conclusions: Pediatric patients treated with ODMTs of enalapril for 8 weeks had favorable improvements in LVD and HF symptoms. Full article

The Bicuspid Aortic Valve (BAV) is the most common congenital anomaly in adults, with a global incidence of 1.3%. Despite being well documented, BAV presents significant clinical challenges due to its phenotypic heterogeneity, diverse clinical manifestations, and variable outcomes. Pathophysiologically, BAV differs from tricuspid valves in calcification patterns and hemodynamic effects, leading to increased shear stress and aortic root dilatation, while it is influenced by genetic and hemodynamic factors. This is why therapeutically, BAV presents challenges for both surgical and transcatheter interventions, with surgical approaches being traditionally preferred, especially when aortopathy is present. However, transcatheter aortic valve implantation (TAVI) has emerged as a viable option, with studies showing comparable outcomes to surgery in selected patients, while advancements in TAVI and a better understanding of BAV’s genetic and pathophysiological nuances are expanding treatment options. The choice between mechanical and bioprosthetic valves also presents considerations, particularly regarding long-term durability and the need for anticoagulation. Future research should focus on long-term registries and genetic studies to refine therapeutic strategies and improve patient outcomes. This review aims to evaluate current approaches in the surgical and interventional management of BAV, focusing on its anatomy, pathogenesis, pathophysiology, and therapeutic strategies. Full article

Congenital heart disease (CHD) is one of the most common inborn disorders, with a prevalence of 0.8–1.2%. Affected children are often malnourished due to increased dietary requirements. This may lead to severe long-term complications. Several authoritative organizations have published guidelines addressing nutritional intervention in children with CHD. We aimed to systematically assess the consistency of recommendations, the methodological quality of these guidelines, and the quality of evidence supporting each recommendation. PubMed, Embase, the Cochrane Database, World Health Organization Global Index Medicus, and 16 scientific societies’ websites were searched for the period until September 2023. The guideline quality was assessed using the AGREE II tool. After screening 765 records, only 2 guidelines published in 2013 and 2022 met our inclusion criteria. The main reason for exclusion was the absence of any system for rating the evidence. The main issues concerned the lack of implementation advice or tools and the lack of criteria to measure the application of guideline recommendations. The included guidelines were of good quality and within specific recommendations, both publications were largely in agreement, and the score for the overall assessment was high (83%). There is a pressing need for comprehensive, multi-threaded guidelines incorporating implementation strategies and methods for the performance assessment of children with malnutrition and CHD. Full article

Congenital heart disease (CHD) represents a spectrum of inborn heart defects influenced by genetic and environmental factors. This study advances the field by analyzing gene expression profiles in 21,034 cardiac fibroblasts, 73,296 cardiomyocytes, and 35,673 endothelial cells, utilizing single-cell level analysis and machine learning techniques. Six CHD conditions: dilated cardiomyopathy (DCM), donor hearts (used as healthy controls), hypertrophic cardiomyopathy (HCM), heart failure with hypoplastic left heart syndrome (HF_HLHS), Neonatal Hypoplastic Left Heart Syndrome (Neo_HLHS), and Tetralogy of Fallot (TOF), were investigated for each cardiac cell type. Each cell sample was represented by 29,266 gene features. These features were first analyzed by six feature-ranking algorithms, resulting in several feature lists. Then, these lists were fed into incremental feature selection, containing two classification algorithms, to extract essential gene features and classification rules and build efficient classifiers. The identified essential genes can be potential CHD markers in different cardiac cell types. For instance, the LASSO identified key genes specific to various heart cell types in CHD subtypes. FOXO3 was found to be up-regulated in cardiac fibroblasts for both Dilated and hypertrophic cardiomyopathy. In cardiomyocytes, distinct genes such as TMTC1, ART3, ARHGAP24, SHROOM3, and XIST were linked to dilated cardiomyopathy, Neo-Hypoplastic Left Heart Syndrome, hypertrophic cardiomyopathy, HF-Hypoplastic Left Heart Syndrome, and Tetralogy of Fallot, respectively. Endothelial cell analysis further revealed COL25A1, NFIB, and KLF7 as significant genes for dilated cardiomyopathy, hypertrophic cardiomyopathy, and Tetralogy of Fallot. LightGBM, Catboost, MCFS, RF, and XGBoost further delineated key genes for specific CHD subtypes, demonstrating the efficacy of machine learning in identifying CHD-specific genes. Additionally, this study developed quantitative rules for representing the gene expression patterns related to CHDs. This research underscores the potential of machine learning in unraveling the molecular complexities of CHD and establishes a foundation for future mechanism-based studies. Full article

Background: Congenital heart disease (CHD) encompasses morphofunctional anomalies in the heart and circulatory system present at birth, which may not become apparent until later in life. In Ethiopia, there needs to be more understanding of the prevalence, patterns, and associated complications of CHD malformations. This study aimed to investigate the patterns and complications of CHDs among patients receiving follow-up care at a specialized university referral hospital in Ethiopia. Methods: A hospital-based cross-sectional study was conducted on 199 patients with CHDs to assess the patterns and complications of defects. Retrospective data were collected from 16,972 patients who had follow-ups at a cardiac clinic in 2021 using medical records, and a statistical analysis was performed with SPSS version 24. Results: The most prevalent types of CHDs in our study population were atrial septal defects (ASDs) at 41.2% (82 cases), ventricular septal defects (VSDs) at 26.6% (53 cases), and patent ductus arteriosus (PDAs) at 9.5% (19 cases). Complications related to CHDs were observed in 69.3% (138) of patients, with 30.7% (61) experiencing a single complication and 39.2% (87) experiencing multiple complications. Conclusion: This study found a higher prevalence of CHDs in females (77.8%) compared to males, a trend consistent across various atrial and ventricular defect types. Individuals aged 15 to 25 years exhibited the highest incidence of ASD and VSD. Moreover, CHD-related anomalies were present in 69.3% of the patients studied. Full article

Congenital heart diseases (CHD) are one of the most common birth defects and the main leading cause of death in children. Many patients with CHD are reaching adulthood due to the success of improved contemporary surgical procedures. Understanding the etiology of CHD remains important for patient clinical management. Both genetic and environmental factors are involved in the development and progression of CHD. Variations in many different genes and chromosomal anomalies can be associated with CHD, by expression of different mechanisms. Sporadic cases are the most frequently encountered in these patients. Atrial septal defect is a common congenital heart disease that refers to direct communication between atrial chambers, found isolated or associated with other syndromes. Imaging techniques, especially transthoracic and transesophageal echocardiography (TOE) represent the key for diagnosis and management of ASD. The disease has a major incidence in adulthood, due to late symptomatology, but assessment and treatment are important to avoid time-related complications. Ebstein’s anomaly is a rare congenital disease, with a dominant genetic participation, characterized by an abnormal displacement of the tricuspid valve and right ventricular myopathy, often requiring surgical intervention. Alongside echocardiography, cardiac magnetic resonance (CMR) imaging is the gold standard tool for the assessment of ventricular volumes. Early diagnosis and adequate treatment are mandatory to avoid possible complications of CHD, and thus, ECG, as well as imaging techniques, are important diagnostic tools. However, patients with CHD need a special healthcare team for the entire monitorization in various life stages. Full article

Congenital heart disease (CHD) is the most common major congenital anomaly, affecting one in every 100 live births. Whereas over 90% of children born with CHD in low- and middle-income countries cannot access the care they need, early detection, advances in management, and financial risk protection have resulted in over 90% of children with CHD in high-income countries surviving into adulthood. Despite the presence of universal health coverage, barriers to accessing high-quality cardiovascular and non-cardiovascular care for CHD remain common. Lower socioeconomic status has been associated with differential access to cardiac care and poorer outcomes across multiple cardiovascular conditions and subspecialties. In this review article, we describe the relationship between socioeconomic status and access to CHD care in countries with universal health coverage models. We further evaluate notable challenges and opportunities to improve equitable, high-quality CHD care in these countries. Full article

Dextro-transposition of the great arteries (D-TGA) is the second most common cyanotic heart disease, accounting for 5–7% of all congenital heart defects (CHDs). It is characterized by ventriculoarterial (VA) connection discordance, atrioventricular (AV) concordance, and a parallel relationship with D-TGA. As a result, the pulmonary and systemic circulations are separated [the morphological right ventricle (RV) is connected to the aorta and the morphological left ventricle (LV) is connected to the pulmonary artery]. This anomaly is included in the group of developmental disorders of embryonic heart conotruncal irregularities, and their pathogenesis is multifactorial. The anomaly’s development is influenced by genetic, epigenetic, and environmental factors. It can occur either as an isolated anomaly, or in association with other cardiac defects. The typical concomitant cardiac anomalies that may occur in patients with D-TGA include ventriculoseptal defects, patent ductus arteriosus, left ventricular outflow tract obstruction (LVOTO), mitral and tricuspid valve abnormalities, and coronary artery variations. Correction of the defect during infancy is the preferred treatment for D-TGA. Balloon atrial septostomy (BAS) is necessary prior to the operation. The recommended surgical correction methods include arterial switch operation (ASO) and atrial switch operation (AtrSR), as well as the Rastelli and Nikaidoh procedures. The most common postoperative complications include coronary artery stenosis, neoaortic root dilation, neoaortic insufficiency and neopulmonic stenosis, right ventricular (RV) outflow tract obstruction (RVOTO), left ventricular (LV) dysfunction, arrhythmias, and heart failure. Early diagnosis and treatment of D-TGA is paramount to the prognosis of the patient. Improved surgical techniques have made it possible for patients with D-TGA to survive into adulthood. Full article

Congenital heart disease (CHD) can be complicated by pulmonary arterial hypertension (PAH). Cardiopulmonary bypass (CPB) for corrective surgery may cause endothelial dysfunction, involving endothelin-1 (ET-1), circulating endothelial cells (CECs), and endothelial progenitor cells (EPCs). These markers can gauge disease severity, but their levels in children’s peripheral blood still lack consensus for prognostic value. The aim of our study was to investigate changes in ET-1, cytokines, and the absolute numbers (Ɲ) of CECs and EPCs in children 24 h before and 48 h after CPB surgery to identify high-risk patients of complications. A cohort of 56 children was included: 41 cases with CHD-PAH (22 with high pulmonary flow and 19 with low pulmonary flow) and 15 control cases. We observed that Ɲ-CECs increased in both CHD groups and that Ɲ-EPCs decreased in the immediate post-surgical period, and there was a strong negative correlation between ET-1 and CEC before surgery, along with significant changes in ET-1, IL8, IL6, and CEC levels. Our findings support the understanding of endothelial cell precursors’ role in endogenous repair and contribute to knowledge about endothelial dysfunction in CHD. Full article

Congenital birth defects contribute significantly to preterm birth, stillbirth, perinatal death, infant mortality, and adult disability. As a first step to exploring the mechanisms underlying this major clinical challenge, we analyzed the embryonic phenotypes of lethal strains generated by random mutagenesis. In this study, we report the gross embryonic and perinatal phenotypes of 55 lethal strains randomly picked from a collection of mutants that carry piggyBac (PB) transposon inserts. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses suggested most of the analyzed mutations hit genes involved in heart and nervous development, or in Notch and Wnt signaling. Among them, 12 loci are known to be associated with human diseases. We confirmed 53 strains as embryonic or perinatal lethal, while others were subviable. Gross morphological phenotypes such as body size abnormality (29/55, 52.73%), growth or developmental delay (35/55, 63.64%), brain defects (9/55, 16.36%), vascular/heart development (31/55, 56.36%), and other structural defects (9/55, 16.36%) could be easily observed in the mutants, while three strains showed phenotypes similar to those of human patients. Furthermore, we detected body weight or body composition alterations in the heterozygotes of eight strains. One of them was the TGF-β signaling gene Smad2. The heterozygotes showed increased energy expenditure and a lower fat-to-body weight ratio compared to wild-type mice. This study provided new insights into mammalian embryonic development and will help understand the pathology of congenital birth defects in humans. In addition, it expanded our understanding of the etiology of obesity. Full article

Vascular rings are a rare congenital anomaly of the aortic arch, in which a ring-shaped structure forms, surrounding the trachea and/or esophagus, potentially causing compression. We describe the case of a 14-month-old female patient with failure to thrive secondary to dysphagia, and a vascular ring formed by a right aortic arch, an aberrant left subclavian artery, and a left ligamentum arteriosum. Surgical repair involved ligamentum arteriosum division, Kommerell’s diverticulum obliteration, and left subclavian artery re-implantation into the left carotid artery. Endoscopy and EndoFLIP^TM evaluated the intraoperative improvement in esophageal narrowing and impedance, respectively. The postoperative period was uneventful, and follow-up visits demonstrated dysphagia resolution and a patent re-implanted left subclavian artery. Full article

Over the past five decades, the Fontan procedure has been developed to improve the life expectancy of patients with congenital heart defects characterized by a functionally single ventricle. The Fontan circulation aims at redirecting systemic venous return to the pulmonary circulation in the absence of an impelling subpulmonary ventricle, which makes this physiology quite fragile and leads to several long-term complications. Despite the importance of hemodynamic assessment through cardiac catheterization in the management and follow-up of these patients, a thorough understanding of the ultimate functioning of this type of circulation is lacking, and the interpretation of the hemodynamic data is often complex. In recent years, new tools such as combined catheterization with cardiopulmonary exercise testing have been incorporated to improve the understanding of the hemodynamic profile of these patients. Furthermore, extensive percutaneous treatment options have been developed, addressing issues ranging from obstructive problems in Fontan pathway and acquired shunts through compensatory collaterals to the percutaneous treatment of lymphatic circulation disorders and transcatheter edge-to-edge repair of atrioventricular valves. The aim of this review is to detail the various tools used in cardiac catheterization for patients with Fontan circulation, analyze different percutaneous treatment strategies, and discuss the latest advancements in this field. Full article

Fetal magnetic resonance imaging (fMRI) represents a second-line imaging modality that provides multiparametric and multiplanar views that are crucial for confirming diagnoses, detecting associated pathologies, and resolving inconclusive ultrasound findings. The introduction of high-field magnets and new imaging sequences has expanded MRI’s role in pregnancy management. Recent innovations in ECG-gating techniques have revolutionized the prenatal evaluation of congenital heart disease by synchronizing imaging with the fetal heartbeat, thus addressing traditional challenges in cardiac imaging. Fetal cardiac MRI (fCMR) is particularly valuable for assessing congenital heart diseases, especially when ultrasound is limited by poor imaging conditions. fCMR allows for detailed anatomical and functional evaluation of the heart and great vessels and is also useful for diagnosing additional anomalies and analyzing blood flow patterns, which can aid in understanding abnormal fetal brain growth and placental perfusion. This review emphasizes fMRI’s potential in evaluating cardiac and thoracic structures, including various gating techniques like metric optimized gating, self-gating, and Doppler ultrasound gating. The review also covers the use of static and cine images for structural and functional assessments and discusses advanced techniques like 4D-flow MRI and T1 or T2 mapping for comprehensive flow quantification and tissue characterization. Full article

The clinical context of drug interactions detected by automated analysis systems is particularly important in older patients with multimorbidities. We aimed to provide unique, up-to-date data on the prevalence of potentially inappropriate medications (PIMs) and drug–drug interactions (DDIs) in the Polish geriatric population over 80 years old and determine the frequency and the most common PIMs involved in DDIs. We analyzed all non-prescription and prescription drugs in a representative national group of 178 home-dwelling adults over 80 years old with excessive polypharmacy (≥10 drugs). The FORTA List was used to assess PIMs, and the Lexicomp^® Drug Interactions database was used for DDIs. DDIs were detected in 66.9% of the study group, whereas PIMs were detected in 94.4%. Verification of clinical indications for the use of substances involved in DDIs resulted in a reduction in the total number of DDIs by more than 1.5 times, as well as in a nearly 3-fold decrease in the number of interactions requiring therapy modification and drug combinations that should be strictly avoided. The most common PIMs involved in DDIs were painkillers, and drugs used in psychiatry and neurology. Special attention should be paid to DDIs with PIMs since they could increase their inappropriate character. The use of automated interaction analysis systems, while maintaining appropriate clinical criticism, can increase both chances for a good therapeutic effect and the safety of the elderly during treatment processes. Full article