Congenital Vascular Malformations Research Articles

Megalencephaly: Classification, Genetic Causes, and Related Syndromes

AbstractMegalencephaly is a developmental disorder due to an abnormal neuronal proliferation and migration during intrauterine or postnatal brain development that leads to cerebral overgrowth and neurological dysfunction. This cerebral overgrowth may affect the whole encephalon or only a region; when it involves one hemisphere it is referred to as hemimegalencephaly. Megalencephaly presents with a head circumference measurement of 2 standard deviations above the average measure for age. This group of disorders is clinically characterized by early onset and refractory to therapy epilepsy, neurodevelopmental disorders, behavioral problems, and autism spectrum disorder. Syndromic forms of megalencephaly should be considered when associated with other congenital abnormalities. Megalencephaly in fact could be associated with segmental overgrowth and cutaneous/vascular abnormalities (i.e., Proteus syndrome, CLOVES [congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis, and/ or skeletal abnormalities] syndrome, Klippel-Trenaunay syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome , megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome, etc.) or generalized overgrowth (i.e., Weaver or Beckwith-Wiedemann syndrome) as well as with nanism in achondroplasia where megalencephaly is associated with disproportionate short stature, primary skeletal dysplasia, characteristic facies (prominent forehead, flat nasal bridge), narrow chest, and normal intelligence. It is possible to identify three main groups of disorders associated with megalencephaly: idiopathic or benign, metabolic, and anatomic. The idiopathic (benign) form indicates an abnormal increased head circumference in absence of neurological impairment, such as in benign familial megalencephaly. In metabolic megalencephaly (such as in organic acid disorders, metabolic leukoencephalopathies, or lysosomal diseases) there is an increase of different constituents that increase the size of the brain, whereas in the anatomical form there are underlying genetic causes. Neuroimaging is crucial for diagnosis, as it can reveal a generalized brain growth or a segmental one and possible specific frameworks associated. In all these conditions it is necessary to identify possible microdeletion-microduplication by chromosomal arrays.

Congenital Vascular Malformations in Children: From Historical Perspective to a Multidisciplinary Approach in the Modern Era—A Comprehensive Review

Congenital vascular malformations (CVMs) are the result of an aberrant development during embryogenesis. Although these lesions are present at birth, they are not always visible yet. Once symptomatic, patients suffer from pain, bleeding, ulcers, infections or lymphatic leakage, depending on the subtype of vessels involved. Treatment includes conservative management, surgery, sclerotherapy, embolization and pharmacological therapy. The clinical presentation varies widely and treatment can be challenging due to the rarity of the disease and potential difficulties of treatment. This review gives an overview of the historical developments in diagnosis and classification and exposes the key elements of innovations in the past decades on the identification of genetic mutations and personalized treatment. These advances in the field and a multidisciplinary approach are highly valuable in the optimization of clinical care aimed at both curing or stabilizing the CVM and pursuing physical and psychosocial wellbeing.

Congenital Intracranial Vascular Malformations in Children : Radiological Overview.

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients.

Epidural lipomatosis with foci of hemorrhage and acute compression of the spinal cord in a child with CLOVES syndrome: illustrative case.

Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, and/or scoliosis (CLOVES) syndrome is the most recently described combined vascular anomaly characterized by congenital excessive growth of adipose tissue, vascular malformations, epidermal nevi, and skeletal deformities. This condition exhibits a significant variability in clinical manifestations and a tendency for rapid progression and affects extensive anatomical regions. Information regarding the association of epidural lipomatosis with low-flow venous lymphatic malformations is rare, with few reports in the literature. The authors present a case of a 6-year-old girl who was admitted to the emergency department complaining of rapidly progressing weakness in her lower extremities and partial loss of sensation in the inguinal area. Radiologically, an extradural mass was identified at the T2-6 level, causing acute spinal cord compression. Urgent decompression and partial resection of the mass were performed. Despite satisfactory intraoperative hemo- and lymphostasis, postoperative lymphorrhea/seroma leakage was encountered as a delayed complication and was managed conservatively. CLOVES syndrome is characterized by the combination of various clinical symptoms, not all of which are included in the abbreviation, as well as a progressively deteriorating course, the emergence of new symptoms, and complications throughout the patient's life. This necessitates ongoing monitoring of such patients.

Atriovenous Malformation of Pinna (A Rare Case) At a Tertiary Care Hospital, Patna, Bihar

Introduction: Arteriovenous malformations are vascular abnormalities in which the arterial vasculature connects to the venous, leading to potentially disfiguring and life-threatening complications. Venous malformations (70 %) are the most common CVM (congenital vascular malformation), followed by lymphatic malformations (12 %),arterio-venous malformations (8 %), combined malformation syndromes (6 %) and capillary malformations (4 %).The majority of these lesions are sporadic in nature.Case Report: A 15-year-old male came to E.N.T.OPD at PMCH with a history of swelling and skin discoloration of the right pinna (medial as well as lateral side) since last 2 years.Physical examination Vital signs were normal. Nopallor, no localized lymphadenopathy. A pulsatile swelling with areas of skin discoloration at the right pinna with no necrosis .Ear canal and the tympanic membrane- normal.On palpation Well defined welling, circumscribed margins, soft, non-compressible, spongy, non-tender, and pulsatile with a thrill. Bruit on auscultation.Investigations Routine tests were within normal limits. PTA- bilateral mild S.N.H.L.MRI-High flow vascular malformation seen in right retro auricular region with feeding vessels arising from right superficial temporal artery and branches of right maxillary artery.Treatment- Patient underwent sclerotherapy of the lesion. Postoperatively, the patient was evaluated in the E.N.T OPD at one, two and four weeks following sclerotherapy without recurrence of a mass, pulsation or bruit.

A proposal for a revision of the phlebographic classification of congenital venous malformations.

Venous malformation (VM) is the most frequent type of congenital vascular malformation. In terms of functional outcome local sclerotherapy remains the most important therapeutic tool. For planning and correct estimation and prevention of complications, an exact anatomical classification of the VM is crucial. Not only the drainage, as assessed in the established classification, but also the phlebographic aspect of the internal VM structure itself plays a decisive role. In order to integrate this aspect, we aim to validate a proposal for a revised phlebographic VM classification distinguishing non-lacunar (a) and lacunar (b) types. We retrospectively analyzed all patients with VM in whom a direct puncture phlebography was performed in our clinic between 2009 and 2018 to assess morphology and flow characteristics. Phlebographic assessment included: (I) differentiation of non-lacunar vs. lacunar type; (II) drainage assignment according to the existing classification; (III) adjusted classification combining both. Inter-reader agreement was measured in percentage as well as by the Cohen's kappa coefficient (κ). Overall 26 patients were classified as non-lacunar (a) and 41 patients as lacunar (b) VM. For this categorization, inter-reader agreement was 96% (κ=0.91). Classical Puig classification into types I, II, III and IV showed 87% inter-reader agreement (κ=0.78). For the adjusted classification adding the non-lacunar or lacunar characteristic to type I-IV an agreement of 82% (κ=0.77) was achieved. Phlebographic differentiation into non-lacunar and lacunar VM is feasible and reliable to distinguish phenotypic subgroups of patients with VM. We therefore propose to integrate this parameter of the internal VM structure into the existing classification.

Vascular malformation surgery: Case report

A vascular malformation is an abnormal development of blood vessels. They might be found in the large arteries and veins, in smaller vessels called arterioles and venules, in microscopic capillaries, and/or in the lymphatic channels that carry lymphatic fluid and white blood cells outside of the arteries and veins. Treatment options can range from addressing minor (cosmetic) concerns to providing life-saving care for critical conditions. They may include one or more of the following approaches: Catheter-based techniques such as embolization; sclerotherapy, Laser therapy, Simple observation with regular follow-up visits , Surgery Herein We report the case of a 55-year-old man with a congenital vascular malformation treated surgically.

Endovascular treatment of vein of Galen aneurysmal malformation: hospital-based case series in two tertiary centers

BackgroundVein of Galen aneurysmal malformation (VGAM) is considered a rare vascular malformation, constituting over 1% of all arteriovenous shunts. This malformation represents around 30% of congenital vascular malformations in the pediatric population. The focus of our study is to examine both the clinical and radiological outcomes following endovascular embolization in pediatric patients with Galenic arteriovenous shunts. Our aim is to evaluate the safety and efficacy of endovascular management. This research aims to contribute to understanding the management and outcomes of VGAM in pediatric patients, particularly in the context of endovascular embolization.MethodThis study included 19 patients with vein of Galen malformation evaluated clinically and radiologically and we treated them with endovascular embolization with aim to assess safety and efficacy of endovascular treatment of VGA in the period from May 2019 to December 2022.ResultsWe evaluated 12 male patients 63.2% and 7 females 36.8% in pediatric age group with vein of Galen malformation. Patients were followed for 1 year. Our study included 3 neonates (15.8%), 10 infants (52.6%) and 6 children (2–10 years) (31.6%). Increase SC (skull circumference) was the most common presenting symptoms 8 (42.1%). We have reached total occlusion in 15 patients (78.9%) while 4 patients had residual (21.1%). 11 patients improved (57.9%) and 2 patients died (10.5%).ConclusionVGAM are not very rare and should be kept in mind in children with refractory heart failure. Introduction of endovascular embolization as the primary therapy has significantly improved prognosis. Good selection of cases based on their score and good timing of treatment has impact on prognosis with less morbidities.

Ultrasound Duplex Scanning of Vessels in the Diagnosis of Limb Length Discrepancy in Pediatric Patients with Congenital Vascular Malformations

Ultrasound Duplex Scanning of Vessels in the Diagnosis of Limb Length Discrepancy in Pediatric Patients with Congenital Vascular Malformations

Current clinical evidence is insufficient to support HMME-PDT as the first choice of treatment for young children with port wine birthmarks.

Port wine birthmark (PWB) is a congenital vascular malformation of the skin. Pulsed dye laser (PDL) is the "gold standard" for the treatment of PWB globally. Hematoporphyrin monomethyl ether (HMME or hemoporfin)-mediated photodynamic therapy (HMME-PDT) has emerged as the first choice for PWB treatment, particularly for young children, in many major hospitals in China during the past several decades. To evaluate whether HMME-PDT is superior to PDL by comparing the clinical efficacies of both modalities. PubMed records were searched for all relevant studies of PWB treatment using PDL (1988-2023) or HMME-PDT (2007-2023). Patient characteristics and clinical efficacies were extracted. Studies with a quartile percentage clearance or similar scale were included. A mean color clearance index (CI) per study was calculated and compared among groups. An overall CI (C0 ), with data weighted by cohort size, was used to evaluate the final efficacy for each modality. A total of 18 HMME-PDT studies with 3910 patients in China were eligible for inclusion in this analysis. Similarly, 40 PDL studies with 5094 patients from nine different countries were eligible for inclusion in this analysis. Over 58% of patients in the HMME-PDT studies were minors (<18 years old). A significant portion (21.3%) were young children (<3 years old). Similarly, 33.2% of patients in the PDL studies were minors. A small proportion (9.3%) was young children. The overall clearance rates for PDL were slightly, but not significantly, higher than those for HMME-PDT in cohorts with patients of all ages (C0 , 0.54 vs. 0.48, p = 0.733), subpopulations with only minors (C0 , 0.54 vs. 0.46, p = 0.714), and young children (C0 , 0.67 vs. 0.50, p = 0.081). Regrettably, there was a lack of long-term data on follow-up evaluations for efficacy and impact of HMME-PDT on young children in general, and central nervous system development in particular, because their blood-brain barriers have a greater permeability as compared to adults. PDL shows overall albeit insignificantly higher clearance rates than HMME-PDT in patients of all ages; particularly statistical significance is nearly achieved in young children. Collectively, current evidence is insufficient to support HMME-PDT as the first choice of treatment of PWBs in young children given: (1) overall inferior efficacy as compared to PDL; (2) risk of off-target exposure to meningeal vasculature during the procedure; (3) administration of steriods for mitigation of side effects; -and (4) lack of long-term data on the potential impact of HMME on central nervous system development in young children.

[Clinicopathological and genetic characteristics of common lymphatic malformations in superficial soft tissues].

Objective: To investigate the clinicopathological features, classification, and genetic characteristics of common lymphatic malformation (CLM) in superficial soft tissue. Methods: A retrospective study of 110 patients with the diagnosis of CLM at the Henan Province People's Hospital, China from August 2019 to August 2022 was performed. The clinicopathological features, relevant immunohistochemical (IHC) staining results, and fluorescence quantitative PCR of PIK3CA mutation were analyzed, and patients were followed up. Results: Among the 110 CLM patients, there were 53 males and 57 females; 65 cases (65/110, 59.1%) were first detected when the patients were≤2 years old. The most common location was the head and neck in 41 cases (41/110, 37.3%). Clinically, 102 cases (102/110, 92.7%) were solitary, 83 cases (83/110, 75.5%) were skin-colored, 69 cases (69/110, 62.7%) had indistinct borders, and 10 cases (10/110, 9.1%) had diffuse and severe macroscopic manifestations. There were 52 macrocystic type (52/110, 47.3%), 23 microcystic type (23/110, 20.9%), and 35 combined type (35/110, 31.8%). The macrocystic CLM presented as soft, translucent masses with large cystic cavities on the cut surface, and histologically they were composed of large, irregularly dilated channels that were thicker with irregular smooth muscle and lymphocytic infiltration. Microcystic CLM showed wartlike projections or translucent blisters on the skin, with small honeycomb structures on the cut surface, and histologically consisted of round or angular dilated small lymphatic vessels with little or no smooth muscle. The combined CLM had both macrocystic and microcystic morphologies. IHC staining showed that the lymphatic endothelial cells were positive for LYVE-1, D2-40, PROX1, CD31, and VEGFR3 but negative for CD34; in the macrocystic and combined CLM vessel walls were positive for SMA. Eight of 13 CLM had PIK3CA mutation. All patients were followed up, and 24 (24/110, 21.8%) had relapses, which more frequently occurred in combined type, followed by microcystic type. Conclusions: CLM is a congenital vascular malformation composed of dilated, abnormal lymphatic channels, with PIK3CA mutation. There are significant differences in clinicopathological characteristics among the different types. Since microcystic and combined CLM are prone to recurrence, accurate pathological subtyping is necessary to guide treatment and to predict prognosis.

Venous forms of congenital vascular malformations in the practice of a phlebologist: the realities of today

Venous forms of congenital vascular malformations in the practice of a phlebologist: the realities of today

Lesion segmentation using 3D scan and deep learning for the evaluation of facial portwine stain birthmarks

BackgroundPortwine stain (PWS) birthmarks are congenital vascular malformations. The quantification of PWS area is an important step in lesion classification and treatment evaluation. AimsThe aim of this study was to evaluate the combination of 3D scan with deep learning for automated PWS area quantization. Materials and methodsPWS color was measured using a portable spectrophotometer. PWS patches (29.26–45.82 cm2) of different color and shape were generated for 2D and 3D PWS model. 3D images were acquired by a handheld 3D scanner to create texture maps. For semantic segmentation, an improved DeepLabV3+ network was developed for PWS lesion extraction from texture mapping of 3D images. In order to achieve accurate extraction of lesion regions, the convolutional block attention module (CBAM) and DENSE were introduced and the network was trained under Ranger optimizer. The performance of different backbone networks for PWS lesion extraction were also compared. ResultsIDeepLabV3+ (Xception) showed the best results in PWS lesion extraction and area quantification. Its mean Intersection over Union (MIou) was 0.9797, Mean Pixel Accuracy (MPA) 0.9908, Accuracy 0.9989, Recall 0.9886 and F1-score 0.9897, respectively. In PWS area quantization, the mean value of the area error rate of this scheme was 2.61 ± 2.33. ConclusionsThe new 3D method developed in this study was able to achieve accurate quantification of PWS lesion area and has potentials for clinical applications.

Clinical Values of Whole-Body Blood Pool Scans and SPECT for Evaluation of Congenital Vascular Malformation.

This study examines the diagnostic potential of whole-body blood pool scintigraphy (WBBPS) using technetium-99m-labeled red blood cells to detect congenital vascular malformations (CVMs). It aims to compare its efficacy with traditional imaging techniques such as magnetic resonance imaging (MRI) and ultrasonography (USG), emphasizing its potential advantages in terms of characterization of lesions and capacity for whole-body assessment. The efficacy of WBBPS and single-photon emission computed tomography (SPECT)/computed tomography (CT) imaging in diagnosing CVMs, comparing them with USG and MRI results, was evaluated in this retrospective study. Of the 38 patients, 21 were evaluated using these diagnostic methods, with CVMs classified according to the International Society for the Study of Vascular Anomalies guidelines. Also, this study aimed to elucidate the characteristics between WBBPS, SPECT/CT, USG, or MRI findings and their consistency with the final diagnosis. A total of 21 participants were included in this study, with an average age of 17.7 years old, with female predominance (57.1%). The most common diagnosis was vascular malformations (VMs) (71.4%), followed by combined vascular malformations (14.3%) and lymphatic malformations (9.5%). WBBPS demonstrated positive results in 95.2% of cases. Distinct imaging patterns for each condition were observed, with WBBPS being crucial in locating lesions. The study findings suggested that WBBPS with SPECT/CT could be helpful in detecting occult VM lesions and ruling out a lymphatic malformation diagnosis. Thus, it can be employed in the evaluation of CVMs.

Incidence and Management of Congenital Vascular Malformations – An Institutional Experience

Abstract Introduction: Congenital vascular malformations (CVMs) are malformed vessels developed due to arrested development at various stages of embryogenesis. Arterial venous malformations (VMs) are complex primitive networks of arterial and venous channels (a nidus) that bypass the normal capillary bed. The management of CVM remains challenging because of their unpredictable behavior, high recurrence rate, and need for multidisciplinary management. In this study, we report on the incidence and management of CVM in our institution and its outcome. Materials and Methods: This is a retrospective analysis of CVM patients who were admitted in our institute from January 2010 to June 2023. In this study, 321 patients who presented with CVM are considered. Once a CVM was diagnosed, all underwent angiographic confirmation as a roadmap for treatment. Embolization, sclerotherapy, and surgical procedures were instituted by the multidisciplinary team with periodic follow-up. Results: Out of the 321 patients analyzed, VM predominates with 202 cases (62.9%), out of which 105 (51.9%) were treated with sclerotherapy, 66 (28.21%) were treated with excision, 40 (19.8%) were managed conservatively. Among 108 arteriovenous malformation (33.64%), 33 (30.55%) patients were treated with excision followed by repair and flap cover/split skin graft, 32 (29.62%) were treated with glue Embolization, 7 (6.48%) were treated with embolization followed by excision, one patient presented with life-threatening bleeding was treated by emergency ECA ligation followed by elective excision, 21 (19.44%) were managed conservatively and 13 (12.03%) patients were not willing for surgery. Seven (2.1%) lymphovenous malformation and 4 (1.24%) lymphatic malformations patients were also treated. Conclusion: Diagnosis and management of CVMs by a multidisciplinary approach that integrates surgical therapy with embolization and sclerotherapy appear to improve the results and management.

Cerebellar Dysfunctions Associated with a Developmental Venous Anomaly

A developmental venous anomaly (DVA) is a congenital vascular malformation characterized by dilated medullary veins. In the majority of cases, a DVA is asymptomatic and typically, incidentally diagnosed on magnetic resonance imaging and angiography. However, when a DVA is located in the cerebellum, patients may experience symptoms such as hearing disturbance, tinnitus, and dizziness, which are often attributed to mechanical or flow-related issues. In this report, we present the case of a 70-year-old patient who complained of dizziness, along with cerebellar dysfunctions, due to a DVA.

A rare case of Klippel–Trenaunay syndrome in a neonate

Klippel–Trenaunay syndrome (KTS) is a rare syndrome of congenital capillary-venous vascular malformation associated with altered limb bulk and/or length. It is characterised by capillary nevus, varicosities and hypertrophy of bones and tissues of the affected limb. These three features constitute the primary diagnostic criteria of this syndrome. Although the cause of this disorder is unknown, it has a sporadic occurrence with some reports mentioning autosomal dominant transmission as well. The diagnosis of this embryological malformation is mainly clinical along with supportive evidence from other imaging modalities. In this article, we report a 5-dayold male baby who had phenotypic features suggestive of KTS and was later confirmed by magnetic resonance imaging.

Abstract 14173: Generation and Characterization of Clinically Relevant Disease Models for Port Wine Birthmark Using Induced Pluripotent Stem Cells

Introduction: Port Wine Birthmark (PWB) is a congenital vascular malformation with a progressive development. The current treatments for PWB are Pulse Dye Laser and Photodynamic Laser Treatment. However, the efficacy of blanching the birthmark is inadequate, and the reoccurrence after treatment is a major clinical barrier. Developing clinically relevant disease models that can be used for mechanistic and therapeutic development studies is the critical unmet need. Induced pluripotent stem cell (iPSC) is a powerful tool in different disease models and drug discovery. Besides, iPSC-derived cells can retain and exhibit the disease phenotypes from donors. Therefore, iPSCs and their-derived vascular cells could be potential models for PWB study. Hypothesis: It was hypothesized that PWB iPSC-derived endothelial cell (EC) could retain the disease phenotypes, thus serving as clinically relevant disease models. Methods: PWB lesions and normal skin biopsies were cultured for outgrowths of fibroblasts, followed by reprogramming using CytoTune-iPS Kit. The induction of PWB and normal iPSC into EC was performed using reported protocols with tailored modifications. Bulk RNA and ATAC-seq were performed on both iPSC and iPSC-derived EC. The functional phenotypes of iPSC-derived ECs were characterized using in vitro capillary formation and in vivo Matrigel plug-in assays. Results: PWB EC showed impaired tube formation in vitro with larger perimeters (p=6.22x10 -24 ) and thicker branches (p=1.07x10 -77 ) comparing with normal EC. In plug-in assay, the perfused human vasculatures were characterized by using UEA1 and anti-human CD31 antibodies. Perfused vasculature formed by PWB EC showed larger perimeters (p=8.45x10 -6 ) and greater densities (p=7.34x10 -8 ) than those formed by normal EC. Additionally, 16.6% of perfused vessels formed by PWB EC showed perimeters over 300 μm. KEGG analysis of RNA-seq DEGs showed significantly dysregulated pathways related to cell differentiation, organ development, and lipid metabolism in PWB iPSCs and ECs as compared with normal ones. Conclusions: PWB-derived EC retained critical disease related phenotypes including forming enlarged vessels and thick branches in vitro and in vivo, which can be utilized as valuable PWB models.

Mechanism of LEF1-AS1 regulating HUVEC cells by targeting miR-489-3p/S100A11 axis.

The venous malformation is the most common congenital vascular malformation and exhibits the characteristics of local invasion and lifelong progressive development. Long noncoding RNA (lncRNA) regulates endothelial cells, vascular smooth muscle cells, macrophages, vascular inflammation, and metabolism and also affects the development of venous malformations. This study aimed to elucidate the role of the lncRNA LEF1-AS1 in the development of venous malformations and examine the interaction among LEF1-AS1, miR-489-3p, and S100A11 in HUVEC cells. Venous malformation tissues, corresponding normal venous tissues, and HUVEC cells were used. Agilent human lncRNA microarray gene chip was used to screen differential genes, RNA expression was detected using quantitative reverse transcription PCR, and protein expression was detected using Western blotting. The proliferation, migration, and angiogenesis of HUVEC cells were assessed using CCK8, transwell, and in vitro angiogenesis tests. A total of 1,651 lncRNAs were screened using gene chip analysis, of which 1015 were upregulated and 636 were downregulated. The lncRNA LEF1-AS1 was upregulated with an obvious difference multiple, and the fold-change value was 11.03273. The results of the analysis performed using the StarBase bioinformatics prediction website showed that LEF1-AS1 and miR-489-3p possessed complementary binding sites and that miR-489-3p and S100A11 also had complementary binding sites. The findings of tissue experiments revealed that the expressions of LEF1-AS1 and S100A11 were higher in tissues with venous malformations than in normal tissues, whereas the expression of miR-489-3p was lower in venous malformations than in normal tissues. Cell culture experiments indicated that LEF1-AS1 promoted the proliferation, migration, and angiogenesis of HUVEC cells. In these cells, LEF1-AS1 targeted miR-489-3p, which in turn targeted S100A11. LEF1-AS1 acted as a competitive endogenous RNA and promoted the expression of S100A11 by competitively binding to miR-489-3p and enhancing the proliferation, migration, and angiogenesis of HUVEC cells. Thus, LEF1-AS1 participated in the occurrence and development of venous malformation. The expression of LEF1-AS1 was upregulated in venous malformations, and the expression of S100A11 was increased by the adsorption of miR-489-3p to venous endothelial cells, thus enhancing the proliferation, migration, and angiogenesis of HUVEC cells. In conclusion, LEF1-AS1 is involved in the occurrence and development of venous malformations by regulating the miR-489-3p/S100A11 axis, which provides valuable insights into the pathogenesis of this disease and opens new avenues for its treatment.

S3735 Budd-Chiari Syndrome Secondary to Congenital Vascular Malformation: A Novel Complication in a Patient with Trisomy 21

S3735 Budd-Chiari Syndrome Secondary to Congenital Vascular Malformation: A Novel Complication in a Patient with Trisomy 21