Common Congenital Anomaly Research Articles

Comparison Between Surgical Techniques for Correction of Congenital Syndactyly: A Systematic Review and Meta Analysis.

This review aimed to assess which surgical technique has better outcomes to correct one of the most common congenital anomalies of the upper limb: syndactyly. The following databases were used in the search: PubMed, Embase, Cochrane (CENTRAL), LILACS, SciELO, Scopus and Web of Science, on October 27, 2022. Studies that described a surgical technique for correcting syndactyly and evaluated surgical complications were included. Studies about noncongenital or foot syndactyly were excluded. The risk of bias was assessed using a specific method for case reports. For synthesis of results, the characteristics of the studies and techniques were demonstrated by a qualitative analysis. Meta-analysis models were applied for complications, functionality, and aesthetic. 73 studies were included, of which 70 were series or case reports, 27 studies did not use skin grafts and 7 studies used external fixators. To evaluate functional results, 42 studies used only the surgeon's opinion. Meta-analyses showed a higher incidence of scar defects when using skin grafts and of infection when using external fixators. There was no difference for web creep and readmission. Few studies evaluated results using the VSS scale, showing worse scar pigmentation when skin grafts were used, but there was no difference in other parameters (PROSPERO CRD42022368930).

Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review.

Congenital anomalies of the kidney and urinary tract (CAKUT) and congenital heart disease (CHD) are the most common congenital defects and constitute a major cause of morbidity in children. Anomalies of both systems may be isolated or associated with congenital anomalies of other organ systems. Various reports support the co-occurrence of CAKUT and CHD, although the prevalence can vary. Cardiovascular anomalies occur in 11.2% to 34% of patients with CAKUT, and CAKUT occur in 5.3% to 35.8% of those with CHD. The co-occurrence of genetic factors in both CAKUT and CHD would raise common etiologies including genetics, genetic-environmental interactions, or shared molecular mechanisms and pathways such as NODAL, NOTCH, BMP, WNT, and VEGF. Studies in animal models and humans have indicated a genetic etiology for CHD and CAKUT with hundreds of genes recognized and thousands of entries, found in a catalog of human genetic disorders. There are over 80 CAKUT genes and over 100 CHD genes available for clinical testing. For example, the HNFIB gene accounts for 5% to 31% of reported cases of CAKUT. In view of the association between CAKUT and CHD, a thorough cardiac examination should be performed in patients with CAKUT, and a similar evaluation for CAKUT in the presence of CHD. This will allow early diagnosis and therapeutic intervention to improve the long- term outcome of patients affected, and test for at-risk family members. We present here evidence for an association of anomalies involving the two organ systems, and discuss possible etiologies of targeted genes, their functions, biological processes and interactions on embryogenesis.

Traumatic stress in parents of children with congenital heart disease: a scoping review.

Congenital heart disease is the most common birth defect in the United States, with many of the affected infants requiring surgical and/or interventional procedures within their first year of life. The parental impacts of a child's diagnosis, subsequent hospitalization, and transition to home after discharge are numerous and burdensome, and many experience symptoms of traumatic stress along this trajectory. The purpose of this scoping review was to summarize current available literature related to the traumatic stress experienced by parents of children with heart disease to better understand the prevalence, related factors, and consequences. The Joanna Briggs Institute Scoping Review Framework was implemented to identify 31 relevant peer-reviewed articles published between 2000 and early 2024, including 25 quantitative studies, 3 qualitative studies, and 3 systematic reviews or meta-analyses. This scoping review provides an overview of parent traumatic stress for clinicians caring for children with heart disease at every stage of their clinical course.

Identification of competing endogenous RNA networks associated with circRNA and lncRNA in TCDD-induced cleft palate development

2,3,7,8 -tetrachlorodibenzo-p-dioxin (TCDD) is a teratogen that can induce cleft palate formation, a common birth defect. Competing endogenous RNAs (ceRNAs), including circular RNAs (circRNAs) and long non-coding RNAs (lncRNAs), indirectly regulate gene expression via sharing microRNAs (miRNAs). Nevertheless, the mechanism by which they act as ceRNAs to regulate palatal development remains to be explored in greater detail. Here, the cleft palate model of C57BL/6 N pregnant mice was constructed by gavage of TCDD (64 ug/kg) on gestation day (GD) 10.5, and the palatal shelves were taken on gestation day (GD) 14.5 for whole-transcriptome sequencing to investigate the underlying mechanisms of the roles of circRNAs and lncRNAs as ceRNAs in cleft palate. Sequencing results revealed that 293 lncRNA, 589 circRNA, 47 miRNA, and 138 messenger RNA (mRNA) were significantly dysregulated, and the cytochrome P450 (CYP) enzymes and the aryl hydrocarbon receptor (AhR) pathway play key roles in the induction of cleft palate upon exposure to TCDD. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis revealed the function of TCDD function was mainly related to the metabolic processes of intracellular compounds, including the metabolic processes of cellular aromatic compounds and the metabolism of exogenous drugs by cytochrome P450, etc. Furthermore, quantitative reverse transcription polymerase chain reaction (qRT-PCR) indicated that the circRNA_1781/miR-30c-1–3p/PKIB and XR_380026.2/miR-1249–3p/DNAH10 ceRNA networks were hypothesized to be a hub involved in palatal development suggesting that the circRNA_1781/miR-30c-1–3p/PKIB and XR_380026.2/miR-1249–3p/DNAH10 ceRNA networks may be critical for palatogenesis, setting the foundation for the investigation of cleft palate.

Efficacy of perioperative pain management in paediatric cardiac surgery: a protocol for a network meta-analysis

IntroductionCongenital heart disease is a common birth defect, but advancements in diagnosis and treatment have improved survival rates. Enhanced recovery after surgery (ERAS) programmes have emerged in paediatric cardiac surgery....

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.

Feeding intolerance after pediatric cardiac surgery is associated with dysbiosis, barrier dysfunction, and reduced short-chain fatty acids.

Congenital heart disease (CHD) is the most common birth defect, occurring in roughly 40,000 U.S. births annually. Malnutrition and feeding intolerance (FI) in CHD range from 30% to 42% and are associated with longer hospitalization and increased mortality. Cardiopulmonary bypass (CPB) required for surgical repair of CHD induces a systemic inflammatory response worsening intestinal dysbiosis and leading to intestinal epithelial barrier dysfunction (EBD), possibly contributing to postoperative FI. The objective of this study was to determine the relationship of postoperative FI with intestinal microbiome, short-chain fatty acids (SCFAs), and EBD in pediatric CHD after cardiac surgery. This was a prospective study of patients aged 0-15 years undergoing cardiac surgery with CPB. Samples were collected preoperatively and postoperatively to evaluate the gut microbiome, plasma EBD markers, short-chain fatty acids (SCFAs), and plasma cytokines. Clinical data were collected to calculate a FI score and evaluate patient status postoperatively. We enrolled 26 CPB patients and identified FI (n = 13). Patients with FI had unique microbial shifts with the reduced SCFA-producing organisms Rothia, Clostridium innocuum, and Intestinimonas. Patients who developed FI had associated elevations in the plasma EBD markers claudin-2 (P < 0.05), claudin-3 (P < 0.01), and fatty acid binding protein (P < 0.01). Patients with FI had reduced plasma and stool SCFAs. Mediation analysis showed the microbiome functional shift was associated with reductions in stool butyric and propionic acid in patients with FI. In conclusion, we provide novel evidence that intestinal dysbiosis, markers of EBD, and SCFA depletion are associated with FI. These data will help identify mechanisms and therapeutics to improve clinical outcomes following pediatric cardiac surgery.NEW & NOTEWORTHY Feeding intolerance contributes to postoperative morbidity following pediatric cardiac surgery. The intestinal microbiome and milieu play a vital role in gut function. Short-chain fatty acids are gut and cardioprotective metabolites produced by commensal bacteria and help maintain appropriate barrier function. Depletion of these metabolites and barrier dysfunction contribute to postoperative feeding intolerance following cardiac surgery. Identifying mechanistic targets to improve the intestinal milieu with the goal of improved nutrition and clinical outcomes is critical.

Comprehensive Review of the Psychosocial Impact on Parents of Newborns With Congenital Heart Disease: A Significant Problem in Low- and Middle-Income Countries.

Congenital heart disease (CHD) is a common and significant congenital disorder. Despite advancements in neonatal care, Congenital heart disease remains a leading cause of death among infants with congenital malformations. Congenital heart disease is responsible for a significant portion of stillbirths and includes several forms with various anatomical variations. A CHD diagnosis leads to significant emotional distress for parents, affecting family dynamics and quality of life. Parents often experience psychological impacts, such as anxiety, depression, and guilt, particularly when diagnoses occur after birth. This literature review explores the psychosocial impact of CHD on families and examines how the timing of diagnosis influences outcomes. Parents face numerous challenges, including managing complex medical care and addressing financial and emotional burdens. Effective communication between healthcare providers and families is crucial, as is providing continuous emotional support and counseling. Early psychological interventions can alleviate depression and anxiety, and pediatric psychologists play a significant role in reducing the negative long-term effects on neurodevelopment. Further research is needed to develop strategies to improve mental health services and enhance the quality of life for families affected by CHD.

Population-Based Estimates of the Prevalence of Children With Congenital Heart Disease and Associated Comorbidities in the United States.

Congenital heart defects (CHD) are the most common birth defects and previous estimates report the disease affects 1% of births annually in the United States. To date, CHD prevalence estimates are inconsistent due to varied definitions, data reliant on birth registries, and are geographically limited. These data sources may not be representative of the total prevalence of the CHD population. It is therefore important to derive high-quality, population-based estimates of the prevalence of CHD to help care for this vulnerable population. We performed a descriptive, retrospective 8-year analysis using all-payer claims data from Colorado from 2012 to 2019. Children with CHD were identified by applying International Classification of Diseases-Ninth Revision (ICD-9) and International Classification of Diseases-Tenth Revision (ICD-10) diagnosis codes from the American Heart Association-American College of Cardiology harmonized cardiac codes. We included children with CHD <18 years of age who resided in Colorado, had a documented zip code, and had at least 1 health care claim. CHD type was categorized as simple, moderate, and severe disease. Association with comorbid conditions and genetic diagnoses were analyzed using χ2 test. We used direct standardization to calculate adjusted prevalence rates, controlling for age, sex, primary insurance provider, and urban-rural residence. We identified 1 566 328 children receiving care in Colorado from 2012 to 2019. Of those, 30 512 children had at least 1 CHD diagnosis, comprising 1.95% (95% CI, 1.93-1.97) of the pediatric population. Over half of the children with CHD also had at least 1 complex chronic condition. After direct standardization, the adjusted prevalence rates show a small increase in simple severity diagnoses across the study period (adjusted rate of 11.5 [2012]-14.4 [2019]; P<0.001). The current study is the first population-level analysis of pediatric CHD in the United States. Using administrative claims data, our study found a higher CHD prevalence and comorbidity burden compared with previous estimates.

A Study On The Screening Of Congenital Heart Disease Using Pulse Oximetry In Asymptomatic Newborns Delivered In Tertiary Care Centre

Introduction: Congenital Heart Disease is the most common congenital abnormality in newborns and has been recognized as one of the leading causes of death in the first year of life. The global incidence of CHD is estimated at 8 per 1000 live births. Using pulse oximetry critical and many of the asymptomatic CHD can be identified in the immediate post natal period. This strategy will help in early identification and its intervention. Objective: To assess the effectiveness of pulse oximetry as a screening tool for detection of CHD in asymptomatic newborn. Methods: It was a Hospital based Cross sectional study conducted in the Department of Obstetrics and Gynaecology, in collaboration with the Department of Paediatrics, of a tertiary hospital in North Eastern State from May 2022 to April 2024. Results: The mean birth weights of the neonates were2.93±0.29 Kg and the mean gestational age was 37.74±1.56 weeks. 4% of all neonates screened with pulse oximetry showed positive result. Among them 4 (2%) neonate were diagnosed with CHD. Out of the 4 neonates diagnosed with CHD, 3 were diagnosed with VSD and 1 with PDA. Conclusion: Eight (8) i.e 4% of the neonates were screened with positive pulse oximetry and out of which four (4) were diagnosed with CHD. Proportion of neonates who were screened positive in pulse oximetry with positive echocardiographic findings were significantly higher than those who screened negative (p value &lt;0.001). Therefore, the pulse oximetry screening for detection of CHD among asymptomatic neonates in our study showed a moderate sensitivity (75%), high specificity (97.4%) and negative predictive value (99.47%) and a reasonably low positive predictive value (37.5%), respectively

Deficient GATA6-CXCR7 signaling leads to bicuspid aortic valve.

The cardiac outflow tract (OFT) transiently links the ventricles to the aortic sac and forms the arterial valves. Abnormalities in these valves, such as bicuspid aortic valve (BAV), are common congenital anomalies. GATA6-inactivating variants cause cardiac OFT defects and BAV, but their mechanisms are unclear. We generated Gata6STOP/+ mice using CRISPR-Cas9, which show highly penetrant BAV (70%) and membranous ventricular septal defects (43%). These mice exhibited decreased proliferation and increased ISL1-positive progenitor cells in the OFT, indicating abnormal cardiovascular differentiation. Gata6 deletion with the Mef2cCre driver line recapitulated Gata6STOP/+ phenotypes, indicating a cell-autonomous role for Gata6 in the second heart field. Gata6STOP/+ mice showed reduced OFT length and caliber, associated with deficient cardiac neural crest cell contribution, which may cause valvulo-septal defects. RNA-sequencing analysis showed depletion in pathways related to cell proliferation and migration, highlighting Cxcr7 (also known as Ackr3) as a candidate gene. Reduced mesenchymal cell migration and invasion were observed in Gata6STOP/+ OFT tissue. CXCR7 agonists reduced mesenchymal cell migration and increased invasion in wild-type but not in Gata6STOP/+ explants, indicating the GATA6-dependent role of CXCR7 in OFT development and its potential link to BAV.

“Gastrointestinal Quality of Life After Congenital Duodenal Obstruction Repair: A Nationwide Long-term Follow-up Study”

BackgroundCongenital duodenal obstruction (CDO) is one of the most common gastrointestinal congenital anomalies. Still, patient-reported long-term results are limited. The aims of this study were to evaluate the long-term gastrointestinal quality of life (QoL), generic QoL, patient-reported scar appearance, and reinterventions after CDO repair. MethodsPatients who underwent surgery for CDO in Norway from 1995 to 2020 were invited to answer the validated questionnaires PedsQL and PedsQL gastrointestinal symptom scale and a study-specific questionnaire on general health and scar assessment. Parent-proxy reports were used for patients <12 years and patients with cognitive impairment. Scores were compared with an American and Norwegian control group for gastrointestinal and generic QoL, respectively. ResultsOf 186 eligible patients, eight were deceased, 25 had unretrievable contact information, and 79 did not respond. There were no significant differences between included (n = 74) and not included (n = 112) patients regarding baseline data. The mean follow-up time was 13.3 (SD = 6.6) years. Patients with CDO had significantly lower overall gastrointestinal QoL than controls (85.9 versus 90.0, p = 0.010). The most common symptoms were gas/bloating, constipation, food/drink limits, and reflux. Generic QoL was similar between the CDO population and controls (84.4 versus 85.3, p = 0.530). Twenty-one (28 %) patients had some degree of pain and/or concern related to the surgical scar. Nine (12 %) patients had reoperations related to the CDO repair; four due to adhesive small bowel obstruction. ConclusionA notable portion of patients report troublesome gastrointestinal symptoms and cosmetic concerns regarding their surgical scar after CDO repair. Even so, generic QoL was good. Level of evidenceIV.

Characteristics and Outcomes of Operatively Treated Discoid Lateral Meniscus in Pediatric and Young Adult Patients: A Multicenter Study.

Discoid lateral meniscus (DLM) is the most common congenital abnormality of the meniscus. Tears are common; treatment is frequently not definitive, often requiring reoperation. To report the clinical manifestations, physical characteristics, operative treatments and findings, complications, and reoperations of DLM in pediatric patients from multiple centers across North America. Case series; Level of evidence, 4. Consecutive patients who underwent treatment for symptomatic DLM at 9 institutions between 2000 and 2020 were included. Patient data, presenting symptoms and signs, surgical findings, treatments rendered, and postoperative complications, including reoperation rates, were collected. Means with ranges and counts with proportions are reported for continuous and categorical variables, respectively, and comparisons were made using either the chi-square or Fisher exact test. In total, 784 patients (867 knees) were included with a mean age at diagnosis of 12 years (range, 1-22 years) and a mean follow-up of 22.6 months (range, 0-154 months). Common preoperative symptoms were locking (33%) and snapping (30%). At surgery, tears in the DLM were present in 647 knees (594 patients [76%]); 95 knees (11%) had multiple tears; and in 140 knees, tears extended into >1 zone. Tears, when present, were more common within the posterior horn (41%) or body (34%) than the anterior horn (25%). Peripheral rim instability was reported in 241 knees (28%). Significantly more knees had instability posteriorly (15%; P = .0004) and anteriorly (9%; P = .0013) than along the body (3%). Tear type was most commonly complex (38%) or horizontal (34%). A total of 358 knees in 333 patients with tears (42% of all patients) underwent repair (55% of knees with tears). A total of 175 complications were reported, occurring in 139 knees in 134 patients (17%); 116 of these knees with complications (83%) had a single complication, while 23 (17%) had >1. Of the 784 patients, 105 (13%) underwent reoperation, undergoing 135 additional procedures related to their DLM. Of those, 60 (44%) were repeat arthroscopy and meniscal trim; 40 (30%), arthroscopy and meniscal repair; and 17 (13%), an articular cartilage procedure. Locking and snapping were common presenting symptoms. Over three-quarters of patients had meniscal tears, which were most often complex and located posteriorly. Seventeen percent of patients experienced complications, and a sixth of patients with complications had >1. Reoperation was typically for persistent symptoms or meniscal retear.

Care of children with congenital rubella syndrome (CRS) in Indonesia.

Congenital rubella syndrome (CRS) is associated with severe birth defects, that lead to disability in later life. Hence, early detection and intervention are needed to prevent permanent disability and mortality in children with CRS. We evaluated the time to diagnosis or correction intervention related to survival rate using survival analysis. A retrospective cohort study was conducted to evaluate the follow-up of CRS-confirmed cases from 2011-2018 at a national referral hospital in Jakarta, Indonesia. Parents of eligible children who registered in the national CRS registry as laboratory-confirmed CRS cases were contacted through phone calls or home visits and interviewed about the current situation of their child's health. We also obtained clinical data from the medical records. Fifty children, age 4 to 14 years, identified with laboratory-confirmed CRS were included in this study. Half (54%) of these children were female. All were born from mothers with no previous rubella vaccination history. Ophthalmic abnormalities such as congenital cataracts (88%) were the most common birth defect. Multiple congenital abnormalities including congenital heart disease, ocular abnormalities, and auditory defects were identified in 52% of the children. Based on Kaplan-Meier analysis, 50% of children were diagnosed at four months. Ophthalmic corrections such as cataract surgery were performed earlier than heart or auditory correction, with 50% of children undergoing eye correction one month after the diagnosis. There is a vital need to implement CRS surveillance in Indonesia to know the burden of CRS and reinforce the preventive actions, including vaccination against rubella.

Anesthetic Considerations in Neonates with Tracheoesophageal Fistula: Navigating Challenges for Successful Outcomes

Tracheoesophageal fistula (TEF) is an anomalous connection between the trachea and esophagus with an incidence of 1 in every 2500 live births making it one of the most common congenital anomalies seen in major neonatal surgical centers. If left undiagnosed and untreated, it may lead to neonatal morbidity and early mortality. This case report focuses on the challenges faced in the anesthetic management of neonates with TEF, their airway management, and ventilation strategies in a health center with low neonatal surgical load.

Quality of Life and Motor Function in Children with Spina Bifida and Hydrocephalus: Impact on Family Functioning in Indian Rural Population

Background &amp; Purpose: Spina Bifida means “open spine”, and refers to a common congenital birth defects involving a failure of the neural tube to close or to remain closed during early embryogenesis. A significant complication for infants born with myelomeningocele is the onset of hydrocephalus. In rural Indian populations, where socioeconomic constraints and healthcare accessibility are significant challenges, the correlation between motor function and QoL becomes a critical area of investigation. Thus, the purpose of this study is to explore quality of life and motor function in children with spina bifida and hydrocephalus… its impact on family functioning in Indian rural population. Methodology : 20 Subjects with spina bifida and hydrocephalus, age 6 –10 years, both male and female with mean age of 47.30 months were assessed for their demographic profile according to selection criteria. They were assessed for quality of Life by using PedsQL Infant scoring Scale, Family functioning by using PEDSQLFIS, Motor function by using Gross Motor Function Measure (GMFM), socioeconomic status using Modified Kuppuswamy Socioeconomic Scale. The data was collected and computed in a systematic way and then analysed by using SPSS 20. Results : Correlational analysis was done. Statistically significant correlation was found in duration of operation and GMFM, PedsQL Infant scoring Scale and GMFM. Conclusion : This study shows that children with spina bifida and hydrocephalus in rural India benefit from better quality of life when they have improved motor skills. However, the impact of family dynamics, socioeconomic status, and the length of surgery on their quality of life was less clear. Overall, while good motor function is strongly linked to a better quality of life, other factors also play a role.

Investigating Single Nucleotide Polymorphisms in the Etiology of Cleft Lip and Cleft Palate in the Polish Population.

Cleft lip and/or palate (CL/P) are the most common congenital anomalies in the craniofacial region, leading to morphological and functional disruptions in the facial region. Their etiology involves genetic and environmental factors, with genetics playing a crucial role. This study aimed to investigate the association of four single nucleotide polymorphisms (SNPs)-rs987525, rs590223, rs522616, and rs4714384-with CL/P in the Polish population. We analyzed DNA samples from 209 individuals with CL/P and 418 healthy controls. The impact of SNPs on the presence of CL/P was assessed using multivariate logistic regression. Significant associations were found with rs987525. Specifically, the AC genotype was linked to an increased CL/P risk (odds ratio [OR] = 1.95, 95% confidence interval [CI]: 1.34-2.83, p < 0.001), while the CC genotype was associated with a decreased risk (OR = 0.46, 95% CI: 0.32-0.67, p < 0.001). Rs4714384 was also significant, with the CT genotype correlated with a reduced risk of CL/P (OR = 0.66, 95% CI: 0.46-0.94, p = 0.011). SNPs rs590223 and rs522616 did not show statistically significant associations. These results underscore the role of rs987525 and rs4714384 in influencing CL/P risk and suggest the utility of genetic screening in understanding CL/P etiology.

Timely Access for Orofacial Cleft Repairs in a Brazilian Amazon Center.

Orofacial clefts are the most common congenital craniofacial anomalies worldwide, and if not managed in a timely manner, can lead to significant complications. We aim to examine surgical timing at one of the few cleft care centers in the North region of Brazil since its foundation in 2016. This retrospective, descriptive study analyzed medical records from 2016 to 2023. We calculated the age at surgery for each time period and each primary surgery performed. We also evaluated the number of procedures performed outside the recommended age. Of the 1439 procedures performed from 2016 to 2023, 713 procedures met our inclusion criteria. Among these, 66.67% (n=188) of primary cheiloplasties, 67.80% (n=40) of primary lip adhesions, and 54.57% (n=203) of palatoplasties were performed outside the recommended time frame. Of the surgeries performed, 45.16% (n=322) were between 2016 and 2019, while 54.84% (n=391) were from 2020 to 2023. Considering procedures performed within the ideal recommended age groups, only 32.92% (n=106) were done between 2016 and 2019, in contrast to 45.01% (n=176) between 2020 and 2023. In conclusion, since the inception of the specialized center, there has been an increase in surgical volume and an improvement in their timing. However, many surgeries are still being conducted outside the recommended time frame.

ECAD study: Evaluating agreement degree among paediatricians in hip dysplasia assessment by the Graf ultrasound method.

Developmental dysplasia of the hip (DDH) is the most common musculoskeletal anomaly of childhood. This study analyses paediatrician's concordance performing hip ultrasound according to Graf's method. An analytical cross-sectional study is designed. Patients' hips are evaluated by Graf's ultrasound method at 4-6 and 12-16weeks of age. Demographic characteristics, pregnancy history, factors related to DDH, hip type, and α and β angles are collected. To assess the agreement degree of hip diagnosis and hip types Kappa index (I. kappa) is used. Intraclass correlation coefficient (ICC) evaluates the concordance of α and β angles. A p value < 0.05 is considered statistically significant. All results are represented with their 95% confidence interval (95% CI). Four hundred sixty-seven neonates are recruited and meet the inclusion criteria. A total of 3182 images were analysed. Agreement between paediatricians according to hip diagnosis and different types ranges from moderate to almost perfect I. kappa 0.6-1.0 (95% CI 0.5-0.7; 95% CI 1.0-1.0). α angle ICC for paediatricians is between 0.75 and 0.88 (95% CI 0.61-0.86; 95% CI 0.80-0.92). β angle value agreement degree among paediatricians at both visits is moderate. The Graf method is the most popular ultrasound technique for hip assessment. In our setting, paediatricians carry out children follow-up; therefore, they should perform universal screening. In this study agreement degree between paediatricians varies between substantial and almost perfect. Conclusion: The Graf ultrasound procedure performed by paediatricians is a reliable test and can be used for DDH screening. What is Known •Developmental dysplasia of the hip (DDH) is the most common congenital musculoskeletal anomaly of childhood. Early diagnosis and treatment improve DDH prognosis. Lack of detection can cause complications such as lameness, early osteoarthritis and need for hip replacement at an early age. What is New •Today, the best screening method is still subject of debate. But it seems that with selective screening many pathological hips go unnoticed. Universal screening implementation may be a challenge in some countries. But the question is if this could be carried out by paediatricians as part of healthy child follow-up.

Bicuspid Aortic Valve Disease: From Pathophysiology to Treatment.

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.