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6 pages, 26099 KB  
Interesting Images
Heterotopic Cutaneous Adnexa Arising from the Ascending Colon Presenting as a Chronic Abdominal Wall Sinus: A Rare Congenital Anomaly and Diagnostic Challenge
by Gang Xiao, Dan-Dan Li, Qiu-Shi Huang, Shan He, Yuan Liang and Jian Shen
Diagnostics 2026, 16(19), 3251; https://doi.org/10.3390/diagnostics16193251 - 8 Oct 2026
Abstract
A chronic abdominal wall sinus tract caused by heterotopic cutaneous adnexa arising from the colonic serosa is extremely rare and readily misdiagnosed. We report a 39-year-old woman with congenital scoliosis and a 30-year history of intermittent, odorless, non-feculent discharge from a cutaneous opening [...] Read more.
A chronic abdominal wall sinus tract caused by heterotopic cutaneous adnexa arising from the colonic serosa is extremely rare and readily misdiagnosed. We report a 39-year-old woman with congenital scoliosis and a 30-year history of intermittent, odorless, non-feculent discharge from a cutaneous opening in the right lower abdominal wall; she had no prior abdominal surgery. Contrast-enhanced computed tomography (CT) revealed a non-enhancing sinus tract extending from the ascending colon toward the abdominal wall, whereas colonoscopy showed normal colonic mucosa with no fistulous communication. Laparoscopic exploration revealed a tubular structure arising from the serosal surface of the middle ascending colon that bifurcated into an abdominal wall branch and a pelvic branch, the latter not identified on preoperative imaging. Because the lesion was considered benign but preoperative imaging could not determine the depth of involvement, and an unexpected pelvic branch was found intraoperatively, a laparoscopic limited right hemicolectomy was performed with en bloc excision of both branches. Histopathological examination confirmed the absence of intestinal epithelial components, and immunohistochemistry was positive for cytokeratin 7 (CK7), GATA-binding protein 3 (GATA-3), and p63, confirming a cutaneous adnexal origin. The patient recovered uneventfully, with no recurrence at the 6-month follow-up. This case may represent a rare congenital developmental anomaly related to abnormal persistence of ectodermal components during embryologic development; however, definitive embryologic proof is lacking. It emphasizes the importance of a detailed history, the inclusion of congenital heterotopic cutaneous adnexal lesions in the differential diagnosis of refractory abdominal wall sinus tracts, and complete excision of all sinus tract branches to prevent recurrence and repeated ineffective interventions. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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13 pages, 2751 KB  
Article
Claims-Based Diagnostic Registration Patterns and Clinical Burden of Selected Common Aneuploidies in Korean Children: A Nationwide HIRA Study (2009–2023)
by Hye Eun Kwon, So Hyeon Gwon, Nak-Hoon Son and Jun Chul Byun
Children 2026, 13(10), 1360; https://doi.org/10.3390/children13101360 - 8 Oct 2026
Abstract
Background: Selected common aneuploidies, including Down, Edwards, Patau, Turner, and Klinefelter syndromes, are important causes of congenital anomalies and diverse clinical morbidities. However, nationwide evidence regarding the recent diagnostic registration patterns, clinical outcomes, and healthcare burdens in South Korea remains limited. Methods: We [...] Read more.
Background: Selected common aneuploidies, including Down, Edwards, Patau, Turner, and Klinefelter syndromes, are important causes of congenital anomalies and diverse clinical morbidities. However, nationwide evidence regarding the recent diagnostic registration patterns, clinical outcomes, and healthcare burdens in South Korea remains limited. Methods: We conducted a nationwide descriptive analysis using claims data from the Health Insurance Review and Assessment Service (HIRA) of South Korea between 2009 and 2023. Among individuals aged 0–14 years, we evaluated period-based administrative registration frequency and ratios relative to live births, age at diagnosis, comorbidities including congenital heart disease (CHD) and epilepsy, in-hospital mortality, and first-year healthcare expenditures following the first observed claims-code date. Results: Among the 5,586,770 live births over the 15-year study period, 5900 individuals with one of the five selected common aneuploidies were identified in the HIRA database, corresponding to an overall claims-based diagnostic registration ratio of 105.6 per 100,000 live births. Down syndrome was the most frequently registered disorder, accounting for 59.51% of the cases, followed by Turner syndrome (19.56%), Klinefelter syndrome (14.76%), Edwards syndrome (4.63%), and Patau syndrome (1.54%). The corresponding claims-based diagnostic registration ratios were 62.8, 20.7, 15.6, 4.9, and 1.6 per 100,000 live births, respectively. Edwards and Patau syndromes had the highest clinical burden, with discharge-recorded in-hospital mortality of 34.07% (95% CI, 28.46–40.02) and 32.97% (95% CI, 23.47–43.61), respectively, and the highest median first-year healthcare expenditures of 17,394,435 KRW (Q1–Q3, 1,087,560–61,040,440) and 7,478,665 KRW (Q1–Q3, 510,510–37,524,080), respectively. The prevalence of CHD ranged from 60.7% to 70.3% in Down, Edwards, and Patau syndromes and was approximately 11% in Turner and Klinefelter syndromes. Conclusions: This nationwide claims-based study demonstrated distinct diagnostic registration patterns and outcome disparities among the selected common aneuploidies in Korean children. These findings support the need for disorder-specific clinical pathways, integrated national surveillance, and targeted supportive care to address the substantial clinical and economic burdens. Full article
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17 pages, 1035 KB  
Review
Teratogenic Effects and Outcomes of Congenital Oropouche Virus Infection: Current Evidence, Pathophysiological Mechanisms, and Research Priorities
by Léo Pomar, Loïc Epelboin and Najeh Hcini
Viruses 2026, 18(10), 1101; https://doi.org/10.3390/v18101101 - 5 Oct 2026
Viewed by 98
Abstract
Background: Oropouche virus (OROV), an Orthobunyavirus endemic to Latin America, has recently emerged as a pathogen of concern in pregnancy following reports of vertical transmission, fetal demise, congenital anomalies, and neonatal disease. The unprecedented 2023–2025 outbreaks in Latin America have expanded the geographic [...] Read more.
Background: Oropouche virus (OROV), an Orthobunyavirus endemic to Latin America, has recently emerged as a pathogen of concern in pregnancy following reports of vertical transmission, fetal demise, congenital anomalies, and neonatal disease. The unprecedented 2023–2025 outbreaks in Latin America have expanded the geographic distribution of OROV and renewed concerns regarding its potential as an emerging human teratogen. Methods: We conducted a narrative comprehensive review of the literature focusing on epidemiology, maternal–fetal transmission, placental infection, experimental models, fetal and neonatal outcomes, and comparisons with other congenital arboviral infections. Results: Increasing evidence supports the ability of OROV to infect the placenta, cross the maternal–fetal interface, and invade fetal tissues. Human cases have documented miscarriage, stillbirth, fetal demise, microcephaly, ventriculomegaly, cerebral atrophy, corpus callosum abnormalities, posterior fossa defects, arthrogryposis, and neonatal death following maternal infection. Viral RNA and OROV-specific antibodies have been detected in placental, fetal, and neonatal samples, providing direct evidence of congenital infection. Experimental studies using trophoblast cultures, placental organoids, neural progenitor cells, brain organoids, and animal models have confirmed placental susceptibility, vertical transmission, fetal neurotropism, and disruption of neurodevelopment. The congenital phenotype shares important similarities with congenital Zika syndrome and other neurotropic arboviral infections. Conclusions: OROV is newly and increasingly recognized as a vertically transmissible neurotropic arbovirus with potential teratogenic effects. Although biological plausibility is supported by converging clinical and experimental findings, prospective epidemiological studies are urgently needed to quantify risks, identify determinants of fetal injury, and define long-term outcomes among affected children. Full article
(This article belongs to the Section Human Virology and Viral Diseases)
22 pages, 2094 KB  
Review
Cell–Cell Communication in Embryonic Kidney Development: Insights from Single-Cell and Spatial Transcriptomics
by Leping Wang, Xuejia Zheng, Feng Zhu, Liu Xiang, Chengcheng Liu, Enqi Feng, Yuxian Liu and Yong Dai
J. Dev. Biol. 2026, 14(4), 43; https://doi.org/10.3390/jdb14040043 - 2 Oct 2026
Viewed by 219
Abstract
Embryonic kidney morphogenesis depends on the coordinated communication among ureteric epithelium, nephron progenitors, stroma, endothelium and differentiating nephrons. Classical studies established central roles for glial cell line-derived neurotrophic factor (GDNF) signaling through the RET proto-oncogene receptor tyrosine kinase (RET), WNT-family signaling, fibroblast growth [...] Read more.
Embryonic kidney morphogenesis depends on the coordinated communication among ureteric epithelium, nephron progenitors, stroma, endothelium and differentiating nephrons. Classical studies established central roles for glial cell line-derived neurotrophic factor (GDNF) signaling through the RET proto-oncogene receptor tyrosine kinase (RET), WNT-family signaling, fibroblast growth factor (FGF), bone morphogenetic protein (BMP), Notch, Hedgehog, vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF) pathways, but pathway-centered models do not fully explain why similar signals produce different outcomes across cell states, anatomical locations and developmental stages. Single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics have refined these models by resolving heterogeneous progenitor, stromal and vascular states, reassigning several signal sources and constraining predicted interactions to defined tissue relationships. Here, we examine how these findings change the interpretation of ureteric bud (UB) branching, nephron progenitor transitions, stromal patterning and vascular integration. We use the dynamic developmental niche as an evidence-organizing framework, rather than as a new biological entity, to distinguish established mechanisms from relationships supported mainly by transcriptomic, spatial or computational evidence. Vascular, immune and mechanical interactions are evaluated according to their model-specific support, and we outline experiments required to connect predicted communication with morphogenetic outcomes and congenital anomalies of the kidney and urinary tract (CAKUT). Full article
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14 pages, 2535 KB  
Article
Marked Unilateral Renal Asymmetry with Contralateral Compensatory Enlargement and an Accessory Renal Artery Arising from the Common Iliac Artery
by Keirsten Templin, Caitlin Wetzel, Breanna Vance, Elena Watson and Jodie Foster
Anatomia 2026, 5(4), 31; https://doi.org/10.3390/anatomia5040031 - 2 Oct 2026
Viewed by 107
Abstract
Background/Objectives: Renal hypoplasia is the reduction in renal mass due to inadequate kidney development or blood supply. It is one of the more frequently misapplied terms in renal pathology, and it includes simple, oligomeganephronic, segmental, and cortical subtypes. Congenital anomalies of the kidney [...] Read more.
Background/Objectives: Renal hypoplasia is the reduction in renal mass due to inadequate kidney development or blood supply. It is one of the more frequently misapplied terms in renal pathology, and it includes simple, oligomeganephronic, segmental, and cortical subtypes. Congenital anomalies of the kidney and urinary tract affect an estimated 1 in 500 live births. Few cadaveric studies have documented vascular anomalies, such as accessory renal arteries, thoroughly. This cadaveric case report aims to characterize the gross and histologic features of a markedly reduced left kidney size and compensatory enlarged right kidney encountered during routine cadaveric dissection, with attention to an accessory right renal artery arising from the common iliac artery. Methods: This cadaveric case report was conducted on a 95 year old male whole-body donor. Kidney length, width, depth, and weight were recorded bilaterally and compared to normative cadaveric datasets. Renal arteries and renal veins were measured for length and width. Ureter width was also noted. Coronal sections of both kidneys were examined. Hematoxylin and eosin-stained histologic sections of both kidneys were reviewed microscopically to characterize nephron architectures, tubulointerstitial changes, and glomerular status. Renal arteries were also analyzed histologically for atherosclerotic changes. Results: Bilateral kidneys were identified in their expected anatomic positions with marked size differences. The left kidney measured 6.0 cm in length, 1.8 cm in width at the mid-hilum, and 2.0 cm in depth at the mid-hilar level. The left kidney weighed 18.6 g. The right kidney measured 13.5 cm in length, 6.0 cm in width at the mid-hilar level, and 5.0 cm thick at the mid-hilar level. The right kidney weighed 155.3 g. The left kidney was supplied by a single renal artery and vein, while the right kidney demonstrated dual arterial supply. A primary right renal artery from the abdominal aorta and an accessory right renal artery from the right common iliac artery supplied the right kidney. The right ureter was mildly dilated compared to the left. Gross coronal sections of the left kidney showed defined renal pyramids and columns despite reduced size. The right kidney showed poorly defined pyramids and columns, dilated calyces, and multiple cortical cysts. Histologically, the left kidney showed normal architecture of intact nephrons with reduced overall number of functional units consistent with favoring simple hypoplasia. The right kidney showed diffuse “thyroidization” with interstitial inflammation, tubular atrophy, and glomerulosclerosis. Conclusions: This case documents marked anatomic and histologic asymmetry between paired kidneys alongside a congenital accessory renal artery arising from the common iliac artery. Identification of anomalous vascular supply, such as an accessory renal artery arising from the common iliac artery, is clinically relevant to surgical planning. Full article
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11 pages, 985 KB  
Article
Expanding the Clinical and Molecular Spectrum of Cartilage-Hair Hypoplasia in the Mexican Population
by Kiabeth Robles-Espinoza, Eduardo Esparza-García, Jorge Román Corona-Rivera, Mariana Pérez-Coria, Perla Graciela Rodríguez-Gutiérrez, Juan Ramón González García and María Teresa Magaña-Torres
Int. J. Mol. Sci. 2026, 27(19), 8815; https://doi.org/10.3390/ijms27198815 - 2 Oct 2026
Viewed by 185
Abstract
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia caused by variants in RMRP (RNA component of mitochondrial RNA processing endoribonuclease), which encodes a non-coding RNA. Despite its well-established clinical and molecular spectrum in some populations, data from Mexico remain limited. We [...] Read more.
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia caused by variants in RMRP (RNA component of mitochondrial RNA processing endoribonuclease), which encodes a non-coding RNA. Despite its well-established clinical and molecular spectrum in some populations, data from Mexico remain limited. We report eight patients from seven unrelated families with CHH. Clinical and radiographic findings were assessed, and RMRP was analyzed by polymerase chain reaction and Sanger sequencing. All patients exhibited disproportionate short stature; prenatal long-bone shortening and short stature at birth occurred in 50%. Radiographs showed widened long bones and metaphyseal dysplasia in all patients. Extraskeletal manifestations were observed in four patients, each with a distinct feature: immunodeficiency, anemia, Hirschsprung disease, or lymphopenia. RMRP variants were identified in all patients, comprising two homozygous and six compound heterozygous genotypes. Eight variants were detected: three pathogenic (n.6C>T, n.147G>A, and n.72A>G), two likely pathogenic (n.127C>T and n.125C>T), two variants of uncertain significance (n.128G>C and n.215C>T), and a novel promoter deletion (n.-39_-19del) encompassing the RMRP TATA box, classified as likely pathogenic according to the ClinGen RMRP variant interpretation specifications (GN088, Version 1.3). This study expands the clinical and molecular spectrum of CHH in the Mexican population and provides additional evidence for RMRP variant interpretation. Full article
(This article belongs to the Special Issue Functional Genomics of Rare Variants in Human Disease)
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21 pages, 824 KB  
Review
Beyond Surgical Repair in Hypospadias: Genetics, Emerging Technologies, and Lifelong Outcomes—A Narrative Review
by Irfan Muhammad Alqadrie, Putu Angga Risky Raharja, Gerhard Reinaldi Situmorang, Irfan Wahyudi, Arry Rodjani and Tariq Abbas
Children 2026, 13(10), 1330; https://doi.org/10.3390/children13101330 - 30 Sep 2026
Viewed by 199
Abstract
Background/Objectives: Hypospadias is a heterogeneous congenital anomaly. This selected narrative review examines emerging domains that may complement conventional surgical care, with particular emphasis on complex, proximal, atypical, familial, or disorder of sex development (DSD)-associated presentations and on long-term outcomes. Methods: A structured narrative [...] Read more.
Background/Objectives: Hypospadias is a heterogeneous congenital anomaly. This selected narrative review examines emerging domains that may complement conventional surgical care, with particular emphasis on complex, proximal, atypical, familial, or disorder of sex development (DSD)-associated presentations and on long-term outcomes. Methods: A structured narrative search of PubMed/MEDLINE, Scopus, and Web of Science was conducted for English-language human or clinically applicable translational literature published from January 2000 through December 2025, supplemented by reference screening and targeted updating of genetics, non-operative management, and adult-outcome literature. Results: Objective phenotyping may improve anatomical description and research comparability. Endocrine/genetic evaluation should be considered in proximal hypospadias, including boys with descended testes, and is most clearly indicated when accompanied by cryptorchidism, micropenis, undervirilisation, familial disease, or other features suggestive of DSD; isolated distal hypospadias without such features does not generally require genetic or formal multidisciplinary DSD assessment. Limited evidence also supports explicit consideration of non-operative management in selected mild distal cases, while studies of uncorrected distal hypospadias report heterogeneous functional and cosmetic outcomes. Artificial intelligence (AI), quantitative tissue assessment, registries, and biobanks remain investigational. Long-term studies highlight sexual, reproductive, psychosocial, and late surgical outcomes that may extend into adulthood. Conclusions: The literature supports a selective, phenotype-driven framework rather than a universal multidisciplinary model, with particular attention to complex/atypical disease and lifelong outcome assessment. Full article
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9 pages, 611 KB  
Article
Contribution of MTHFR C677T and A1298C Variants to Retinoblastoma Risk in Mexican Children
by Jose de Jesus Perez-Becerra, Juan Antonio Ramirez-Corona, David Fernandez Sanchez, Fernando Alexis Flores Leura, Sinhue Alejandro Brukman-Jimenez, Alfredo Corona-Rivera, Jorge Román Corona-Rivera, Graciela Gonzalez-Perez, Gladys Hassel Calderon-Camacho, Andrea Montserrat Figueroa Pizano, Janette Alicia Mena Leon, Mireya Orozco-Vela and Lucina Bobadilla-Morales
Genes 2026, 17(10), 1204; https://doi.org/10.3390/genes17101204 - 29 Sep 2026
Viewed by 148
Abstract
Background: Retinoblastoma (RB) is the most common malignant intraocular tumor in childhood. Although germline and somatic alterations in RB1 contribute to RB development, additional genetic factors may influence susceptibility. Methylenetetrahydrofolate reductase (MTHFR) participates in folate metabolism and DNA synthesis and repair. This [...] Read more.
Background: Retinoblastoma (RB) is the most common malignant intraocular tumor in childhood. Although germline and somatic alterations in RB1 contribute to RB development, additional genetic factors may influence susceptibility. Methylenetetrahydrofolate reductase (MTHFR) participates in folate metabolism and DNA synthesis and repair. This study evaluated the association of MTHFR C677T and A1298C polymorphisms with RB susceptibility in Mexican children. Methods: A case–control study included 58 Mexican children with clinically diagnosed RB and 301 healthy controls matched for sex and ethnicity. Genomic DNA was extracted from peripheral blood, and MTHFR C677T (rs1801133) and A1298C (rs1801131) were genotyped using TaqMan allelic discrimination assays. Allele and genotype frequencies were compared using chi-square and Fisher’s exact tests. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. A recessive genetic model was applied to both polymorphisms. Results: The MTHFR 677TT genotype was associated with significantly reduced odds of RB under the recessive genetic model (TT vs. CC + CT), using Firth’s penalized logistic regression (OR = 0.066; 95% CI: 0.007–0.250, p < 0.001). The T allele was also less frequent among cases, supporting a potential protective association. No significant association was observed between MTHFR A1298C and RB susceptibility (p = 0.262). Conclusions: The MTHFR C677T polymorphism was associated with RB susceptibility in this Mexican cohort, with the TT genotype showing a potential protective association. No significant association was identified for A1298C. Further studies are warranted to investigate the role of MTHFR variation and folate-dependent DNA metabolism in RB susceptibility. Full article
(This article belongs to the Special Issue Integrative Cancer Genomics: Unveiling Novel Biomarkers)
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10 pages, 2467 KB  
Case Report
Presumed Congenital Urethrorectal Fistula with Suspected Distal Urethral Atresia in a Kitten Managed with Modified Perineal Urethrostomy: A Case Report
by Guiqun Niu, Guoyang Sun, Chenyiyu Zheng and Shuai Li
Vet. Sci. 2026, 13(10), 1027; https://doi.org/10.3390/vetsci13101027 - 29 Sep 2026
Viewed by 187
Abstract
Congenital urethrorectal fistula is exceptionally uncommon in cats and may be difficult to anatomically define when accompanied by distal urethral maldevelopment. A 4-week-old intact male domestic shorthair kitten weighing 745 g was evaluated for watery feces, persistent perianal wetness, and suspected passage of [...] Read more.
Congenital urethrorectal fistula is exceptionally uncommon in cats and may be difficult to anatomically define when accompanied by distal urethral maldevelopment. A 4-week-old intact male domestic shorthair kitten weighing 745 g was evaluated for watery feces, persistent perianal wetness, and suspected passage of urine through the anus. Manual bladder compression produced dark anal discharge with a creatinine concentration of 1202 µmol/L. Ultrasonography showed a distended, thick-walled bladder and proximal urethral dilation. CT retrograde urethrography demonstrated contrast within the penile urethra, marked dilation of the pelvic urethra, and a blind diverticulum-like pouch, although the fistulous tract was not visualized. The findings supported a presumptive diagnosis of congenital urethrorectal fistula with distal urethral atresia or discontinuity. A modified perineal urethrostomy was performed by anastomosing preserved preputial mucosa to the proximal urethra, establishing urinary diversion without exploring or closing the tract. Urinary outflow and fecal consistency improved, and the upper urinary tract was ultrasonographically unremarkable at postoperative day 25. Stomal stenosis prevented normal urination at day 675 and necessitated a second surgery. At day 995, urination was generally unobstructed, although intermittent urinary leakage and hematuria persisted. In conclusion, combined fluid analysis and multimodal imaging can support recognition of congenital urinary–rectal communication in kittens. Modified perineal urethrostomy can provide urinary diversion when normal outflow cannot be restored, but long-term surveillance is required because leakage and stomal stenosis may occur. Full article
(This article belongs to the Section Veterinary Surgery)
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17 pages, 2291 KB  
Case Report
The Snoopy Sign Behind a MINOCA: Complete Congenital Absence of the Pericardium
by Claudiu-Florin Rășinar, Silvia Ana Luca, Florin Mircea Giru, Simina Crisan, Corina Maria Vasile and Constantin Tudor Luca
Diagnostics 2026, 16(19), 3159; https://doi.org/10.3390/diagnostics16193159 - 29 Sep 2026
Viewed by 163
Abstract
Background: Myocardial infarction with non-obstructive coronary arteries (MINOCA) requires further investigation to identify the underlying mechanism. Congenital absence of the pericardium is a rare anomaly, usually asymptomatic and incidentally diagnosed. Case Presentation: A 57-year-old woman presented with prolonged resting chest pain, inferior T-wave [...] Read more.
Background: Myocardial infarction with non-obstructive coronary arteries (MINOCA) requires further investigation to identify the underlying mechanism. Congenital absence of the pericardium is a rare anomaly, usually asymptomatic and incidentally diagnosed. Case Presentation: A 57-year-old woman presented with prolonged resting chest pain, inferior T-wave inversion, and markedly elevated high-sensitivity cardiac troponin I (4393 ng/L). Transthoracic echocardiography was limited by non-diagnostic standard views and revealed marked cardiac displacement with preserved left ventricular systolic function. Coronary angiography showed unobstructed coronary arteries but raised suspicion of an anomalous right coronary origin. Coronary computed tomography angiography excluded this anomaly and demonstrated complete absence of the pericardium with marked leftward cardiac displacement. Cardiac magnetic resonance confirmed the anatomical diagnosis and showed preserved biventricular systolic function, no late gadolinium enhancement, and diffusely elevated T2 and extracellular volume, consistent with acute non-ischemic myocardial injury. The patient recovered with conservative management and remained asymptomatic at follow-up. Conclusions: Complete congenital absence of the pericardium may be identified during the evaluation of an acute MINOCA-like presentation. Unusual echocardiographic windows, marked cardiac displacement, and difficult coronary engagement should raise suspicion of this anomaly. Multimodality imaging is essential for defining the anatomy, excluding associated coronary abnormalities, and characterizing myocardial injury. Full article
(This article belongs to the Special Issue Echocardiography Applications in Cardiovascular Diseases)
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17 pages, 2672 KB  
Case Report
Repair of a Large Congenital Peritoneopericardial Diaphragmatic Hernia with Canine Small Intestinal Submucosa Patch Reinforcement in a Dog: A Case Report
by Tae-Seong Moon, Sung-Yeon Moon, Su-Han Woo, Eun-Ji Jeong, Chang-Min Park, A-Jin Lee, Hwi-Yool Kim and Jung-Moon Kim
Animals 2026, 16(19), 3048; https://doi.org/10.3390/ani16193048 - 28 Sep 2026
Viewed by 190
Abstract
Peritoneopericardial diaphragmatic hernia (PPDH) is a congenital anomaly allowing communication between the peritoneal and pericardial cavities. Surgical repair of large diaphragmatic defects can be challenging due to insufficient tissue for primary closure. A 2-year-old intact female White Miniature Schnauzer weighing 6.23 kg presented [...] Read more.
Peritoneopericardial diaphragmatic hernia (PPDH) is a congenital anomaly allowing communication between the peritoneal and pericardial cavities. Surgical repair of large diaphragmatic defects can be challenging due to insufficient tissue for primary closure. A 2-year-old intact female White Miniature Schnauzer weighing 6.23 kg presented with a 1-month history of panting and exercise intolerance. Thoracic radiography, ultrasonography, echocardiography, and CT confirmed PPDH with herniation of the left medial and quadrate liver lobes into the pericardial sac. Surgical repair via midline celiotomy revealed a large defect (4.5 × 5 cm) involving approximately 70% of the central tendon. Primary closure was incomplete because only two simple interrupted sutures could be placed at the dorsal margin due to excessive tension, leaving a triangular residual defect larger than 3 × 3 cm at the ventral aspect, which was closed with a two-layer canine small intestinal submucosa (cSIS) patch applied over the residual defect. Reherniation occurred 42 days postoperatively at the margin between the diaphragm and the cSIS patch. At the second surgery, grossly observed tissue presumed to be newly formed self-tissue at the cSIS site enabled direct suture repair. No recurrence was observed during a 5-month follow-up, and a telephone interview with the owner 3 years after the second surgery confirmed that the dog remained free of clinical signs. This case suggests that cSIS may serve as a feasible reinforcement biomaterial for large diaphragmatic defects where primary closure alone is insufficient, although conclusions drawn from a single case remain preliminary, and surveillance for marginal reherniation is warranted. Full article
(This article belongs to the Section Veterinary Clinical Studies)
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16 pages, 4081 KB  
Article
Incremental Anatomical Value of CT Angiography Beyond Echocardiography in the Preoperative Assessment of Pediatric Conotruncal Anomalies: A Surgical Correlation Study
by Demet Kangel, Burcu Çevlik, Elnur Karimov, Ahmet Saki Oğuz, Selin Sağlam, Behzat Tüzün, Ali Can Hatemi, Serap Baş and Erkut Öztürk
Diagnostics 2026, 16(19), 3105; https://doi.org/10.3390/diagnostics16193105 - 24 Sep 2026
Viewed by 153
Abstract
Background: Conotruncal anomalies frequently involve extracardiac vascular structures that are critical for surgical planning yet incompletely assessed by transthoracic echocardiography (TTE). We evaluated the incremental diagnostic value of CT angiography (CTA) beyond TTE using intraoperative findings as the reference standard. Methods: In this [...] Read more.
Background: Conotruncal anomalies frequently involve extracardiac vascular structures that are critical for surgical planning yet incompletely assessed by transthoracic echocardiography (TTE). We evaluated the incremental diagnostic value of CT angiography (CTA) beyond TTE using intraoperative findings as the reference standard. Methods: In this single-center retrospective study, 239 children who underwent surgical repair of a conotruncal anomaly and had both preoperative TTE and CTA were analyzed. The incremental contribution of CTA was graded as none, minor, or major by two independent reviewers. Diagnostic performance of each modality was compared with operative findings for coronary artery anomalies, right aortic arch, aortic arch hypoplasia, interrupted aortic arch, and pulmonary artery atresia, non-confluence, and hypoplasia. Results: CTA provided incremental information beyond TTE in 232 patients (97.1%), classified as major in 51.9% and minor in 45.2%; interobserver agreement was almost perfect (quadratic-weighted κ = 0.825). CTA was superior for coronary artery anomalies (sensitivity 91.7% vs. 50.0%), branch pulmonary artery hypoplasia (97.3% vs. 89.3%), and aortic arch hypoplasia (100% vs. 87.5%; all p < 0.05), and identified aortopulmonary collaterals and a persistent left superior vena cava more frequently than TTE. The two modalities performed comparably for aortic arch sidedness and interrupted aortic arch, and pulmonary atresia. Conclusions: CTA provides additional, operatively confirmed anatomical information beyond TTE in the majority of children with conotruncal anomalies, with the greatest value for extracardiac vascular anatomy. Rather than replacing echocardiography, CTA should be regarded as a complementary modality that refines preoperative anatomical assessment. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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16 pages, 12223 KB  
Case Report
Managing Choledocholithiasis in Rare Congenital Hepatobiliary Anomalies: A Report of Three Cases
by Andreja Ocepek, Luka Strniša, Sabina Vadnjal Đonlagić, Darinka Purg and Sara Nikolić
J. Clin. Med. 2026, 15(19), 7419; https://doi.org/10.3390/jcm15197419 - 24 Sep 2026
Viewed by 211
Abstract
Background: Endoscopic retrograde cholangiopancreatography is an established therapeutic modality for pancreaticobiliary disease. Congenital anatomical anomalies, including situs inversus totalis and rare hepatobiliary malformations, substantially increase the technical complexity of endoscopic retrograde cholangiopancreatography and are seldom encountered in clinical practice. Published experience is [...] Read more.
Background: Endoscopic retrograde cholangiopancreatography is an established therapeutic modality for pancreaticobiliary disease. Congenital anatomical anomalies, including situs inversus totalis and rare hepatobiliary malformations, substantially increase the technical complexity of endoscopic retrograde cholangiopancreatography and are seldom encountered in clinical practice. Published experience is limited predominantly to individual case reports and smaller case series. Methods: We present a report of three patients who underwent endoscopic retrograde cholangiopancreatography: two with situs inversus totalis and choledocholithiasis complicated by acute cholangitis, and one with a rare congenital anomaly consisting of a completely separated right hepatic lobe combined with choledocholithiasis. Results: Successful endoscopic retrograde cholangiopancreatography was achieved in all three patients. In both situs inversus totalis cases, biliary cannulation and stone clearance were accomplished using modified endoscopic techniques, including endoscope rotation and positional adjustments, without procedural complications. In the patient with the separated hepatic lobe, endoscopic retrograde cholangiopancreatography allowed common bile duct stone clearance; however, an attempted mechanical lithotripsy of a gallbladder calculus resulted in basket entrapment, necessitating surgical treatment. Conclusions: Endoscopic retrograde cholangiopancreatography is feasible and effective in patients with congenital hepatobiliary anomalies, but demands meticulous pre-procedural planning, thorough anatomical understanding, and technical versatility. A cautious step-by-step approach and readiness to adapt technique are essential to optimise outcomes and minimise risk. Full article
(This article belongs to the Special Issue Advanced Endoscopy and Imaging in Gastrointestinal Diseases)
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14 pages, 2053 KB  
Article
Structural Fetal Anomalies Identified During First-Trimester Screening: A Single-Centre Experience in Romania
by Maria Cezara Mureșan, Marius Bogdan Mureșan, Dan Dumitrașcu Biriș and Ioan Cosmin Cîtu
Medicina 2026, 62(10), 1824; https://doi.org/10.3390/medicina62101824 - 22 Sep 2026
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Abstract
Background and Objectives: The 11–13+6-week scan has evolved from a nuchal translucency (NT) measurement into an early anatomical survey, and the anomalies it identifies increasingly shape prenatal counselling and management. Data from Central and Eastern European screening populations are scarce. [...] Read more.
Background and Objectives: The 11–13+6-week scan has evolved from a nuchal translucency (NT) measurement into an early anatomical survey, and the anomalies it identifies increasingly shape prenatal counselling and management. Data from Central and Eastern European screening populations are scarce. Materials and Methods: Retrospective cohort of all pregnancies undergoing first-trimester combined screening in a single fetal medicine centre in Romania between August 2009 and April 2026, with a crown–rump length of 45–84 mm. The centre provides routine screening but also receives women referred after an abnormal finding elsewhere; the cohort is therefore described as a screening population with referral enrichment. Structural anomalies recorded prospectively in the ultrasound database at the first-trimester scan were classified by organ system and by first-trimester detectability category. NT, combined risk, karyotype and pregnancy outcome were extracted from the same database. Associations were quantified with odds ratios (OR) from logistic regression with cluster-robust standard errors by woman. Results: 11,229 pregnancies (10,015 women; 408 multiple pregnancies) were included. A structural anomaly was identified at 11–13+6 weeks in 197 (17.5 per 1000; 95% CI 15.3–20.1); 16.1 per 1000 (13.8–18.7) after exclusion of the years 2009–2012 and 16.9 per 1000 (14.6–19.5) in singleton pregnancies. A further 44 pregnancies had isolated cystic hygroma/hydrops or soft markers only. Cardiac defects (81; 7.2 per 1000) and abdominal-wall defects (74; 6.6 per 1000, of which 67 exomphalos) were present in 145 pregnancies (74%), followed by central nervous system (27), facial (23), skeletal (23), thoracic (10) and urogenital (10) anomalies; 37 pregnancies (19%) had anomalies in two or more systems. NT ≥ 3.5 mm was present in 59/197 (30%) anomalous versus 203/11,032 (1.8%) non-anomalous pregnancies (OR 22.8, 95% CI 16.3–31.9), and in 51% of cardiac defects. Among 37 karyotyped fetuses, 15 (41%) had a chromosomal abnormality. Pregnancy outcome was known for 87 anomalous pregnancies: 46 terminations, 33 live births and 8 fetal or neonatal deaths; 17 of 30 exomphalos cases with known outcome were live-born. Conclusions: In a screening population with referral enrichment, about 1 in 57 pregnancies had a structural anomaly identified at the 11–13+6-week scan, dominated by cardiac and abdominal-wall defects; the figure describes prenatally identified anomalies in this setting and is not a population-based prevalence. One third of these fetuses had increased NT and a high proportion of those tested had an abnormal karyotype, supporting the integration of systematic anatomical assessment and genetic evaluation into first-trimester screening. Full article
(This article belongs to the Special Issue Prenatal Diagnosis: Current Challenges and Future Directions)
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24 pages, 1868 KB  
Systematic Review
Computer-Based Simulation Technologies in Pediatric Cardiovascular Diseases: A Systematic Review of Applications and Outcomes
by Arezoo Abasi, Haleh Ayatollahi and Amirhossein Amirzadeh
Healthcare 2026, 14(18), 3086; https://doi.org/10.3390/healthcare14183086 - 19 Sep 2026
Viewed by 256
Abstract
Introduction: Computer-based simulation technologies, including virtual reality (VR), augmented reality (AR), mixed reality (MR), and three-dimensional (3D) modeling, are increasingly used in pediatric cardiovascular care. Despite growing adoption of these technologies, no comprehensive synthesis across VR, AR, MR, and 3D modeling modalities [...] Read more.
Introduction: Computer-based simulation technologies, including virtual reality (VR), augmented reality (AR), mixed reality (MR), and three-dimensional (3D) modeling, are increasingly used in pediatric cardiovascular care. Despite growing adoption of these technologies, no comprehensive synthesis across VR, AR, MR, and 3D modeling modalities exists for pediatric cardiovascular care. Objective: This review aimed to synthesize evidence regarding the applications and outcomes of computer-based simulation technologies in pediatric cardiovascular diseases. Methods: A systematic review was conducted by searching nine databases (PubMed, Web of Science, Scopus, Ovid, the Cochrane Library, IEEE Xplore, ProQuest, CINAHL, and EBSCO Host) for eligible studies published up to 1 September 2025. Thirty-six studies were included and appraised using the Mixed Methods Appraisal Tool (MMAT), the Critical Appraisal Skills Programme (CASP) checklist, and the ROBINS-I tool. Substantial clinical and methodological heterogeneity precluded meta-analysis. Results: VR was the most frequently used modality (n = 14), followed by 3D modeling (n = 8), multimodal approaches (n = 8), MR (n = 6), and AR (n = 3). This technology was mainly used for congenital heart defects (n = 18). MR holography improved diagnostic accuracy for complex anomalies (95.5% vs. 89.7%); VR-based surgical plans aligned better with the real surgery than did 2D imaging plans (80% vs. 66%); VR was preferred over 3D-printed models by 87% of participants (8.5/10 vs. 6.3/10 for anatomical understanding); and VR curricula (Stanford Virtual Heart) significantly increased CHD knowledge scores among students and residents (p < 0.05). However, this evidence was predominantly derived from small, single-center observational studies, with barriers including hardware limitations and limited long-term outcome data. Conclusions: Computer-based simulation technologies show considerable potential for surgical planning, diagnostic assessment, and education in pediatric cardiovascular diseases. They can be used as complementary tools rather than replacements for standard imaging or clinical judgment. While VR and 3D modeling show promise for surgical planning and education, multicenter comparative studies with standardized outcomes and cost-effectiveness analyses are essential before routine clinical implementation. Full article
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