Search Results (1,094)

Coronary artery anomalies (CAAs) are a rare but clinically significant group of congenital abnormalities that are associated with myocardial ischaemia, malignant arrhythmias and sudden cardiac death, particularly in young people and athletes. Despite increasing recognition of these conditions and advances in cardiovascular imaging, there are still significant challenges regarding their classification, risk stratification and management, particularly with respect to surgical indications. This review provides a comprehensive overview of the current evidence on the classification, pathophysiology, diagnosis and management of CAAs, with a particular focus on surgical decision-making and contemporary guideline recommendations. A systematic literature search was conducted up to February 2025 using PubMed and Google Scholar. Priority was given to international guidelines, consensus statements, systematic reviews, meta-analyses and large observational studies. CAAs encompass a broad spectrum of anatomical variants and clinical presentations. Among these, anomalies of coronary origin are the most extensively studied. Surgical management is well established for coronary arteries arising from the pulmonary artery, particularly for anomalous left coronary artery from the pulmonary artery (ALCAPA). Substantial advances have also been made in the diagnosis, risk stratification, and treatment of anomalous aortic origin of a coronary artery (AAOCA), which has become a major focus of contemporary guideline recommendations. For patients with AAOCA, surgical correction, including unroofing, coronary reimplantation or coronary artery bypass grafting, is recommended for individuals with symptoms and/or high-risk anatomical features. In contrast, the diagnosis and management of myocardial bridging, coronary artery fistulas, and coronary artery ectasia remain controversial, with considerable variability in the indications for medical, percutaneous, and surgical treatment. The management of CAAs is an evolving field. While there is consensus for a limited number of anomalies, most cases still require individualised decision-making. It is essential to develop standardised diagnostic frameworks, improved risk stratification tools and outcome-based management criteria. A multidisciplinary, evidence-based approach involving cardiologists, cardiac imagers, interventional cardiologists and cardiac surgeons is crucial in order to optimise patient outcomes and reduce the risk of adverse cardiovascular events, including sudden cardiac death. Full article

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital craniofacial anomalies worldwide and presents significant functional, esthetic, and psychosocial challenges. Despite advances in multidisciplinary care and surgical reconstruction, complications such as impaired wound healing, scar formation, and growth disturbances warrant the development of novel regenerative and surgical strategies, which heavily rely on animal models at the pre-clinical stage. For the current narrative review, the literature search was performed by combining cleft phenotype terms with modeling-approach terms in six databases and was supplemented by manual review of reference lists from full-text articles. The included articles were summarized based on cleft type and the methods for cleft induction (chemically induced, genetically engineered, and surgically created). Particularly, chemical teratogens such as retinoic acid, 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), corticosteroids, and 6-aminonicotinamide have been widely used to induce cleft phenotypes and elucidate environmental influences on palatogenesis, whereas genetic models have clarified the roles of key molecules and signaling pathways, including Sonic hedgehog (SHH), bone morphogenetic protein (BMP), and transforming growth factor-β (TGF-β), in the development of lip and palate. Meanwhile, the surgical models have focused on the alveolar cleft in skeletally mature animals for evaluating novel grafting materials. By comparing the strengths and limitations of existing models, this review highlights opportunities for improving experimental design and translational relevance in future cleft research. Overall, despite a wide range of CL/P animal models available, few replicate clinically relevant defect anatomy and the postnatal craniofacial deformation observed in CL/P patients, underscoring the need for the development of new models. Full article

Bronchial atresia (BA) is a rare congenital anomaly that develops as a consequence of an intrauterine bronchial artery insult. Distal to the atresia, a mucocele can form with consecutive hyperinflation of the peripheral lung parenchyma. We describe an asymptomatic patient with a well-demarcated segmental emphysematous area within the right lower lobe revealed by computed tomography (CT). Here, the right lateral basal segmental bronchus (B9) is proximally interrupted while the distal, mucus-filled bronchus forms a bronchocele. The down-stream segmental parenchyma is hyperinflated. 3D reconstruction of the tracheobronchial tree reveals a normal architecture of the tracheobronchial tree except for the characteristic discontinuation of the right ninth bronchus. Asymptomatic patients with BA do not require treatment, however, follow-up CT is recommended to assess stability of the segmental hyperinflation. Full article

Pediatric congenital right heart obstructive lesions encompass a spectrum of diseases that obstruct blood flow from the right atrium to the pulmonary artery. Right ventricular inflow obstructions include tricuspid valve abnormalities, such as Ebstein anomaly, tricuspid valve dysplasia, and tricuspid atresia. Right ventricular outflow obstructions include pulmonary valve stenosis, pulmonary atresia, and tetralogy of Fallot. Cardiac computed tomography angiography (CCTA) is a valuable tool for the diagnosis, treatment planning, and follow-up of these lesions. In this pictorial review, we highlight the diagnostic utility of CCTA in congenital right heart obstructive lesions, emphasizing its role in preoperative planning. Full article

Posterior urethral valves (PUV) cause congenital urinary tract obstruction and often lead to chronic kidney disease (CKD) despite treatment; however, DNA methylation remains underexplored in PUV. This cross-sectional study aimed to compare peripheral-blood global DNA methylation, measured as 5-methylcytosine content (5-mC%), between boys with PUV and age-matched male controls, and to assess its association with kidney function, CKD stage, and kidney scarring. The study included 45 boys with PUV and 45 age-matched boys as controls. Peripheral-blood global 5-mC% was quantified using an ELISA-based assay. Glomerular filtration rate and kidney scarring were assessed by nuclear scintigraphy, and PUV patients were categorized according to CKD stage and scarring status. Statistical comparisons were performed using the Kruskal–Wallis test followed by Dunn’s test, with exploratory trend analysis used to evaluate the association between global 5-mC% and CKD severity. Global 5-mC content was significantly higher in PUV patients than in controls (median 5-mC%: 0.4336 vs. 0.3732, p < 0.001). Within the PUV cohort, global 5-mC% increased with CKD severity (p < 0.05) and showed a logarithmic association with CKD stage (R² = 0.8012). Patients with kidney scarring also had significantly higher global 5-mC% than controls (p < 0.001), although differences across individual CKD stages and scarring subgroups were not statistically significant. These findings suggest altered systemic global 5-mC content in boys with PUV and support larger, longitudinal studies incorporating locus-specific methylation profiling. Full article

Background and Objectives: Pulmonary sequestration (PS) is a rare congenital lung anomaly with anomalous systemic arterial supply. Surgical resection is the standard treatment, but some children have contraindications. Endovascular embolization (EE) is an established alternative; published pediatric experience is limited, particularly in neonates. We report a two-centre experience with extended follow-up and quantitative hemodynamic data. Methods: Six pediatric patients (five male; median age 6 months, range 11 days to 4 years and 8 months) underwent EE for PS at two centres in Gdańsk, Poland, between 2020 and 2025. Contraindications to surgery were severe pulmonary arterial hypertension, high-output cardiac failure, low body weight with comorbidity, complex extralobar anatomy or refused parental consent. Procedures were performed under general anesthesia via right common femoral arterial access; device strategy was tailored to vessel anatomy. Results: Technical success was 100% with no procedural complications. Median feeding-artery diameter was 3.4 mm (range 2.1 to 5.3 mm). An Amplatzer-family vascular plug was used in five patients (83.3%), pushable platinum coils in two (33.3%) and Onyx-18 in one (16.7%); two had hybrid combinations and one underwent planned staged two-step embolization. Median procedural duration was 51 min. At median follow-up of 50 months (range 11 to 68), all patients showed sequester regression on imaging. Reverse cardiac remodelling occurred within five weeks in the patient with pre-procedural left ventricular dilation (Z-score +2.45 returning to normal); systolic pulmonary artery pressure fell from 35 to 40 to 17 mmHg within six weeks in the neonate treated at 11 days of life for high-output cardiac failure. No patient required surgical resection. Conclusions: Endovascular embolization is safe and effective in pediatric patients with pulmonary sequestration and contraindications to surgery, including neonates with comorbidity. Documented reverse cardiac remodelling and rapid hemodynamic improvement support its use in selected cases. Full article

Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly with exceptional survival into adulthood. We present a 66-year-old woman with chest and back pain in whom ALCAPA was diagnosed using coronary computed tomography angiography (CCTA) with curved planar reformation and cinematic volume rendering technique (cVRT). Photorealistic three-dimensional reconstruction provided complementary three-dimensional visualization that may facilitate anatomic understanding and communication of the anomalous origin. Conservative management was adopted given the patient’s age and well-developed collateral circulation. This case underscores the value of advanced CCTA visualization in diagnosing rare coronary anomalies in elderly patients. Full article

Maternal psychoactive substance use during pregnancy represents a major threat to placental integrity and fetal development. As the central interface for maternal–fetal exchange, the placenta is highly susceptible to psychoactive substances, including alcohol, tobacco, cannabis, cocaine, opioids, and synthetic drugs, which can cross the placental barrier and induce structural and functional alterations. This review synthesizes current evidence on the biological mechanisms, diagnostic approaches, and forensic relevance of psychoactive substances-induced placental pathology. We summarize how different substances disrupt placental vascularization, oxidative balance, epigenetic regulation, and cellular viability, leading to impaired nutrient and oxygen transfer and increasing the risk of adverse outcomes such as intrauterine growth restriction, preterm birth, congenital anomalies, and long-term neurodevelopmental impairment. We further discuss the role of placental tissue in identifying prenatal drug exposure and reconstructing exposure timelines. Beyond its clinical relevance, placental examination provides objective evidence with potential forensic value in cases of suspected maternal substance use, while also informing non-punitive, evidence-based interventions. Overall, integrating placental pathology into reproductive health research and prenatal care offers a multidisciplinary framework to improve maternal–fetal outcomes and guide public health strategies addressing substance use during pregnancy. Full article

Chromosomal microarray analysis (CMA) is widely used to detect chromosomal aneuploidies and copy number variants (CNVs) in pediatric patients with congenital anomalies or developmental concerns. However, its diagnostic utility in critically ill neonates and children admitted to intensive care units (ICUs) remains undercharacterized. We conducted a retrospective review of 679 patients admitted to the neonatal, pediatric, or cardiovascular intensive care units (NICU, PICU, CVICU) at Phoenix Children’s Hospital between 2019 and 2024 who underwent CMA. Demographic data, clinical indications, and CMA results were extracted from electronic medical records to assess diagnostic yield and variant patterns. CMA identified a clinically relevant finding in 102 of 679 patients, resulting in an overall diagnostic yield of 15.0% (95% CI: 12.3–17.7%). Clinically relevant findings included pathogenic (P) variants (n = 88), likely pathogenic (LP) variants (n = 12), and large regions of absence of heterozygosity (AOH) consistent with uniparental disomy (UPD) (n = 2). A variant of uncertain significance (VUS) was detected in 139 patients (20.5%). Among the pathogenic and likely pathogenic variants, CMA identified recurrent CNVs (n = 49), nonrecurrent CNVs (n = 17), aneuploidies (n = 22), and patients with two pathogenic or likely pathogenic CNVs (n = 10). Diagnostic yields of 48.4% (95% CI: 38.5–58.4%) and 8.4% (95% CI: 6.0–11.5%) were observed in patients with single or multiple congenital anomalies including a congenital heart defect (CA + CHD), and in patients with an isolated CHD, respectively. CMA demonstrates significant diagnostic value in critically ill neonates and children, particularly among those with multisystem congenital anomalies. These findings support the routine integration of CMA in genomic evaluation protocols for ICU populations to guide diagnosis, management, and counseling. Full article

Background and Objectives: Syndactyly is a common congenital hand anomaly that may affect hand appearance, function, and psychosocial well-being. This study aimed to evaluate long-term patient-centered outcomes after congenital syndactyly reconstruction, including aesthetic, functional, and psychosocial domains. Methods: This retrospective study included 53 patients with 90 reconstructed web spaces. Aesthetic outcomes were assessed using the Withey score, functional outcomes using the QuickDASH questionnaire, and psychosocial outcomes using an exploratory patient-centered survey developed by the authors. Results: The median follow-up duration was 10 years. The median outcome scores suggested generally favorable long-term results, with a Withey score of 2, a QuickDASH score of 14, and a psychosocial survey score of 29, all within the favorable range of their respective scales. Poorer aesthetic outcomes were observed in patients with complicated syndactyly, those who underwent surgery between 1 and 5 years of age, and those who underwent multiple surgeries. Female sex was associated with poorer functional and psychosocial scores. Complicated syndactyly was associated with less favorable outcomes across all domains. The psychosocial survey demonstrated high internal consistency and significant correlations with both functional and aesthetic outcomes. Conclusions: Congenital syndactyly reconstruction was associated with generally favorable long-term patient-centered outcomes. Less favorable results were observed particularly in patients with complicated syndactyly, while age- and surgery-related associations should be interpreted cautiously because of the retrospective design. These findings support the importance of individualized counseling and long-term assessment that includes aesthetic, functional, and psychosocial dimensions. Full article

Introduction: Obstructed HemiVagina and Ipsilateral Renal Anomaly (OHVIRA) syndrome, also known as Herlyn–Werner–Wunderlich syndrome, is a rare congenital Müllerian duct anomaly, characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Symptoms typically appear shortly after menarche and include dysmenorrhea and pelvic pain. The psychological burden associated with fertility and reproductive outcomes in women with OHVIRA syndrome remains poorly investigated. Materials and methods: A 30-year-old primigravida with left renal agenesis and a history of vaginal abscess, dysmenorrhea, and chronic pelvic pain received a delayed OHVIRA syndrome diagnosis. The patient had previously been informed that spontaneous conception and an uncomplicated pregnancy were highly unlikely because of her congenital gynecological condition, resulting in significant fertility-related anxiety and psychological distress. Under careful supervision and counseling, she conceived successfully, and the pregnancy progressed without complications; an elective cesarean section was performed at term. A literature search using the PubMed and Embase databases was conducted between November 2025 to April 2026 to identify studies reporting reproductive outcomes and psychological aspects in patients diagnosed with OHVIRA syndrome and other Müllerian anomalies. Results: Evidence-based counseling contributed to improvement of quality of life and reduction of pregnancy-related anxiety of the reported patient with OHVIRA syndrome. A limited number of studies discuss the mental burden and fertility-related anxiety of patients with OHVIRA syndrome and other Müllerian anomalies. Conclusions: Spontaneous conception and uncomplicated pregnancy are possible for women with OHVIRA syndrome. The psychological burden associated with congenital gynecological conditions remains under-recognized and requires further investigation. Comprehensive counseling and interdisciplinary care are essential to improve reproductive education, mental health support, and pregnancy outcomes in patients with congenital gynecological anomalies. Full article

Background: Cleft lip with or without cleft palate (CL ± P) is a common congenital anomaly requiring a multidisciplinary team approach from birth into adulthood. Many patients undergo multiple secondary procedures on the lip, nose, and alveolus, representing a substantial long-term “burden of care” for families and health systems. The relationship between preoperative cleft severity and the cumulative number of surgical interventions into late adolescence remains insufficiently characterized. Methods: A retrospective cohort study was conducted on 166 patients with cleft lip ± cleft palate treated at a single tertiary cleft center. All patients underwent primary cheiloplasty, with or without concomitant gingivoperiosteoplasty (GPP), and had follow-up extending to a mean age of 18 years. Preoperative nasolabial deformity was graded into four categories (mild, moderate, severe, and very severe) using standardized photographic assessment. The primary outcome was the total number of cleft-related surgical interventions on the lip, nose, and alveolus, including the primary operation and all subsequent corrective procedures. Associations between preoperative severity and surgery counts were analyzed using the Kruskal–Wallis test and Bonferroni-adjusted pairwise comparisons. Results: All 166 patients underwent a primary procedure, either cheiloplasty alone (n = 86; 51.8%) or cheiloplasty combined with GPP (n = 80; 48.2%). A second surgical intervention was performed in 111 patients (66.8%), yielding 138 procedures, most commonly GPP with bone grafting (n = 54), corrective cheiloplasty (n = 48), GPP without graft (n = 23), and rhinoplasty (n = 12). A third intervention was performed in 48 patients (28.9%; 70 procedures), predominantly rhinoplasty and additional cheiloplasties, and a fourth intervention in 13 patients (7.8%; 17 procedures), mostly staged rhinoplasty and lip revisions. Overall, 56 patients (33.7%) had only one (primary) operation, 50 (30.1%) had two, 27 (16.3%) had three, 18 (10.8%) had four, 13 (7.8%) had five, and one patient (0.6%) had six surgical interventions. The total number of operations differed significantly across severity grades (Kruskal–Wallis p < 0.001). Patients with mild and moderate severity had significantly fewer surgeries than those with severe or very severe deformities (all p ≤ 0.023), whereas differences between mild vs. moderate and severe vs. very severe were not significant. Conclusions: In this cohort of patients with cleft lip followed to a mean age of 18 years, two-thirds required at least one secondary procedure, and nearly one-fifth underwent four or more surgeries. Higher preoperative severity was strongly associated with greater surgical burden, particularly when comparing mild or moderate deformities to severe and very severe clefts. These findings underline the importance of preoperative severity assessment for family counseling, expectation management, and the design of treatment protocols aimed at minimizing the long-term burden of care while preserving functional and esthetic outcomes. Full article

Reproductive emergencies in male dromedary camels (Camelus dromedarius) threaten fertility, health, and welfare but remain poorly documented. This review consolidates knowledge on the diagnosis, management, and prognosis of acute reproductive pathologies, including traumatic injuries (testicular trauma, penile hematoma, and preputial laceration), obstructive conditions (urethral obstruction, phimosis, and paraphimosis), vascular emergencies (spermatic cord torsion, priapism), inflammatory diseases (orchitis, epididymitis, pizzle rot), congenital anomalies (persistent frenulum), iatrogenic complications, and pharmacologic-induced dysfunction. Systematic breeding soundness examination and ultrasonography are indispensable for assessing testicular perfusion and guiding intervention. Given the scarcity of camel-specific literature, this narrative clinical review integrates evidence from published camelid studies, relevant reports from other domestic species, and representative clinical observations documented by the authors to provide a practical framework for diagnosis and management. Field constraints, the stoic nature of camels, and harmful ethnoveterinary practices often delay diagnosis and compromise outcomes. Prognosis varies considerably depending on the condition and timeliness of intervention; early aggressive management can preserve reproductive function, while delayed treatment frequently results in permanent infertility or death. Given the economic and cultural importance of camels in arid regions, improving outcomes for reproductive emergencies is essential for sustaining breeding programs and enhancing animal welfare. This narrative clinical review integrates published literature with representative clinical observations and retrospective field cases to summarize the diagnosis, management, and prognosis of reproductive emergencies in male dromedary camels. It also provides a structured clinical framework to support veterinarians in managing these acute conditions and highlights critical gaps requiring further research. Full article

Lymphatic malformations (LMs) are rare congenital low-flow vascular anomalies that frequently involve the head and neck and may be managed with surgery, laser therapy, sclerotherapy, or multimodal approaches depending on lesion type, size, depth, and relationship with adjacent structures. Ultrasound-guided sclerotherapy with doxycycline is an established treatment option for macrocystic lesions, whereas the practical role of high-frequency superficial ultrasound as a technical adjunct has been less specifically discussed. We report the case of a 32-year-old man presenting with a painless left submandibular swelling of approximately two years’ duration. Magnetic resonance imaging showed a well-encapsulated cystic lesion measuring 56 × 35 mm in the left submandibular region, extending into the internal paralaryngeal space and causing mild compression of the laryngeal wall. Previous fine-needle aspiration cytology had not conclusively established the lymphatic nature of the lesion; therefore, an incisional biopsy was performed and confirmed a macrocystic LM. The patient underwent day-surgery intralesional doxycycline sclerotherapy under real-time high-frequency ultrasound guidance using an 18 MHz hockey-stick transducer. After aspiration of the main cystic compartment through a 25-gauge needle, 100 mg of doxycycline diluted to 10 mg/mL in normal saline was slowly injected under continuous visualization. The procedure was well tolerated under topical local anesthesia, without pain, complications, or adverse effects. A partial clinical reduction was observed after the first session; the treatment was repeated after three months, resulting in apparent complete clinical resolution at one-year follow-up; no post-treatment imaging was available to confirm radiological resolution. This case highlights the potential technical value of high-frequency superficial ultrasonography, particularly for needle positioning, improved delineation of superficial locules, and real-time monitoring of sclerosant distribution. Full article

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous spectrum of developmental disorders and represent the leading cause of chronic kidney disease and end-stage renal disease in the pediatric population. Although imaging remains the cornerstone of diagnosis, its limited ability to accurately assess disease severity and predict long-term outcomes has driven growing interest in urinary, serum, and tissue biomarkers as potential indicators of early renal injury. Objectives: To systematically summarize the current evidence on diagnostic and prognostic biomarkers in pediatric CAKUT, with particular focus on their potential clinical utility in early detection of renal injury and disease monitoring. Methods: A scoping review was conducted in accordance with PRISMA guidelines. PubMed, Embase, and Scopus were searched up to March 2026 using combinations of CAKUT-related terms and “biomarkers.” Studies involving human subjects with CAKUT that evaluated the diagnostic, prognostic, or therapeutic utility of biomarkers were included. Results: Out of 1130 records identified, 101 studies met the inclusion criteria. Urine was the most commonly analyzed biological sample. The principal biomarkers identified included NGAL, KIM-1, MCP-1, TGF-β1, CA19-9, β2-microglobulin, cystatin C, and microRNAs. Across various CAKUT subtypes—including posterior urethral valves, ureteropelvic junction obstruction, vesicoureteral reflux, and multicystic dysplastic kidney—these biomarkers showed significant associations with renal function, inflammatory activity, and fibrotic processes. Several biomarkers, particularly urinary NGAL, MCP-1, and CA19-9, demonstrated good diagnostic performance in differentiating obstructive from non-obstructive hydronephrosis and in predicting renal impairment. However, substantial heterogeneity in study design, along with the lack of standardized cutoff values, limits their translation into routine clinical practice. Conclusions: Current evidence underscores the potential of several biomarkers for the diagnosis and monitoring of CAKUT-related renal injury. Nevertheless, well-designed multicenter prospective studies are needed to validate their clinical utility and to support the integration of biomarker-based approaches with imaging in pediatric practice. Full article