Vascular Anomalies Research Articles

Magnetic resonance imaging of fetal vascular malformations.

Vascular anomalies develop during fetal life and can be detected on prenatal ultrasonography and fetal magnetic resonance imaging. Diagnosis of lymphatic, venous, and arteriovenous malformations, as well as congenital hemangiomas and other congenital vascular tumors, may be challenging. The benign vascular anomalies may be difficult to differentiate from malignancies with a similar appearance. In this manuscript, we present a succinct overview of the congenital vascular anomalies that may present in fetal or neonatal life.

The use of mixed reality in the preoperative planning of colorectal surgery: Preliminary experience with a narrative review

New advanced technologies have recently been developed and preliminarily applied to surgery, including virtual reality (VR), augmented reality (AR) and mixed reality (MR). We retrospectively review all colorectal cases in which we used holographic 3D reconstruction from February 2020 to December 2022. This innovative approach was used to identify vascular anomalies, pinpoint tumor locations, evaluate infiltration into neighboring organs and devise surgical plans for both training and educating trainee assistants. We have also provided a state-of-the-art analysis, briefly highlighting what has been stated by the scientific literature to date. VR facilitates training and anatomical assessments, while AR enhances training and laparoscopic performance evaluations. MR, powered by HoloLens, enriches anatomic recognition, navigation, and visualization. Successful implementation was observed in 10 colorectal cancer cases, showcasing the effectiveness of MR in improving preoperative planning and its intraoperative application. This technology holds significant promise for advancing colorectal surgery by elevating safety and reliability standards.

Combined Endovascular-Microsurgical Treatment for a Parietal Brain Arteriovenous Malformation and Neuropsychological Implications: An Operative 2-Dimensional Video Case: 2-Dimensional Operative Video

Brain arteriovenous malformations (AVMs) are complex vascular anomalies characterized by abnormal veins and arteries, lacking capillary beds. With an average 2.4% annual risk of hemorrhage, AVMs pose a significant challenge in treatment, especially in high-grade cases. Risk factors of hemorrhage include young age, previous rupture, and deep or infratentorial locations. 1-10 In this operative video, a 34-year-old man presented with a history of seizures and progressive headaches over 15 years. Clinical examination revealed a Glasgow Coma Scale of 15 and neuropsychological deficits including divided attention, working memory, verbal and semantic memory, and arithmetic skills. Digital subtraction angiography confirmed an AVM Spetzler-Martin III in the right parietal lobe, with venous drainage toward the superior sagittal sinus and involvement of the superior longitudinal fasciculus. After multiple embolizations, microsurgical resection was performed successfully. Postoperatively, the patient experienced no complications, with follow-up angiography demonstrating complete AVM exclusion. The patient consent to the procedure and to the publication of his/her image. This study was approved by the ethics committee of our institution. Despite its size and location in a noneloquent area, the AVM affected neuropsychological function. The combined endovascular-microsurgical approach proved effective, highlighting the importance of considering anatomical, functional, and neuropsychological factors in AVM treatment to maximize success in achieving complete obliteration and curative outcomes.

Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.

Arteriovenous malformations (AVM) are benign vascular anomalies prone to pain, bleeding, and progressive growth. AVM are mainly caused by mosaic pathogenic variants of the RAS-MAPK pathway. However, a causative variant is not identified in all patients. Using ultra-deep sequencing, we identified novel somatic RIT1 delins variants in lesional tissue of three AVM patients. RIT1 encodes a RAS-like protein that can modulate RAS-MAPK signaling. We expressed RIT1 variants in HEK293T cells, which led to a strong increase in ERK1/2 phosphorylation. Endothelial-specific mosaic overexpression of RIT1 delins in zebrafish embryos induced AVM formation, highlighting their functional importance in vascular development. Both ERK1/2 hyperactivation in vitro and AVM formation in vivo could be suppressed by pharmacological MEK inhibition. Treatment with the MEK inhibitor trametinib led to a significant decrease in bleeding episodes and AVM size in one patient. Our findings implicate RIT1 in AVM formation and provide a rationale for clinical trials with targeted treatments.

Membranoproliferative glomerulonephritis in a child with congenital portosystemic shunt.

Congenital portosystemic shunts (CPSS) are rare congenital vascular anomalies characterized by abnormal connections between the portal vein and systemic circulation, bypassing the liver. They can lead to complications such as recurrent encephalopathy, liver nodules, portopulmonary hypertension, and neurocognitive issues due to hyperammonemia and rarely kidney involvement. Hepatic hemodynamic changes can lead to liver nodules and hepatocellular carcinoma, particularly in extrahepatic shunts. We describe here an 11-year-old girl with type 1 intrahepatic portosystemic shunt with focal nodular hyperplasia in the liver, presenting with nephrotic syndrome that was diagnosed as membranoproliferative glomerulonephritis on kidney biopsy and that responded partially to therapy with immunosuppressants.

A unique case of thoracic origin of the CT, SMA, RRA and LRA

Vascular anomalies are incidental findings revealed by imaging techniques such as Computed Tomography Angiography (CTA), ordered for various medical reasons. Certain variants have been observed and reported more frequently than others, while some occur infrequently.

Reviewing hemangiomas and vascular malformations: An in-depth analysis

This narrative review delves into the intricacies of hemangiomas and vascular malformations (VMs), exploring their characteristics, diagnostic approaches, and therapeutic interventions. Hemangiomas, characterized by an abnormal growth of blood vessels, and VMs, arising from developmental abnormalities in blood vessels, present multifaceted challenges in clinical practice. The review navigates through the clinical manifestations and classifications of these vascular anomalies, emphasizing the importance of accurate diagnosis based on clinical evaluation, imaging techniques, and histopathological assessment. Variations in presentation, ranging from asymptomatic lesions to severe complications impacting vital organs, underscore the necessity for comprehensive understanding and tailored management strategies. Moreover, this review examines current therapeutic modalities encompassing medical, interventional, and surgical interventions. It synthesizes the evolving landscape of treatment options and highlighting the benefits, limitations, and potential adverse effects associated with each approach. In addition, the review underscores the significance of a multidisciplinary approach, integrating expertise from dermatology, radiology, and surgery, to optimize patient care and outcomes. The challenges posed by these vascular anomalies necessitate ongoing research endeavors aimed at refining diagnostic criteria and advancing therapeutic innovations. This review amalgamates existing knowledge and providing clinicians and researchers with a comprehensive understanding of hemangiomas and VMs, thereby fostering continued exploration and innovation in this complex field.

Acute Limb Ischemia Secondary to Thrombosis in Persistent Sciatic Artery: A Case Report and Review of Management Strategies

Persistent sciatic artery (PSA) is a rare vascular anomaly with potential for significant vascular complications. We present a case of a 39-year-old male with acute limb ischemia secondary to thrombosis in a PSA, highlighting the challenges in diagnosis and management. Despite the absence of aneurysmal formation, the patient presented with severe pain and absent distal pulses, prompting urgent intervention. Computed tomography angiography revealed thrombosis extending into the left common iliac artery. Catheter-directed thrombolysis (CDT) was successfully performed, resulting in complete resolution of the thrombus and restoration of limb perfusion. The patient experienced symptomatic relief postoperatively and regained ambulatory function. This case underscores the importance of considering PSA in the differential diagnosis of acute limb ischemia and highlights CDT as an effective treatment modality. Further research is needed to optimize the management of acute limb ischemia associated with PSA and to evaluate long-term outcomes.

Facial Artery Arteriovenous Malformation: An Interdisciplinary Approach to Management

Arteriovenous malformations (AVMs) are rare vascular abnormalities that can result from defects in blood vessels. They are not often found in the facial area, and this report describes a case of a high-flow AVM in an adult patient with swelling in the left mandibular region. Since there were no complications related to swelling, a comprehensive investigation ultimately resulted in the accurate identification of the AVM. The potential risks associated with these malformations highlight the importance of accurate diagnosis and comprehensive diagnostic approaches involving detailed patient history, clinical examination, and advanced imaging techniques. Computed tomography angiography confirmed the diagnosis before undergoing angioembolization and complete excision of the AVM. This case underscores how important accurate diagnosis is for preventing serious complications associated with AVMs and emphasizes using a multidisciplinary strategy when managing these uncommon vascular anomalies.

Fibroadipose Vascular Anomaly: Diagnosis and Treatment

Fibro-Adipose Vascular Anomaly (FAVA) is a recently identified type of vascular malformation predominantly affecting adolescent females. Comprising abnormal adipose and vascular components, FAVA is frequently misdiagnosed as other vascular anomalies. It primarily manifests with pain, functional impairment, and musculoskeletal symptoms, particularly in the lower extremities. Accurate diagnosis requires a combination of clinical, radiologic, and histopathologic evaluation, with MRI and ultrasound being the primary imaging tools. Management of FAVA is multidisciplinary and tailored to individual patients. Interventional radiology procedures, such as percutaneous cryoablation, sclerotherapy, and embolization, are effective in long term control of symptoms. Cryoablation is particularly successful in alleviating pain and improving function. Surgical resection is reserved for specific cases with extensive lesions involving joints or when there is severe muscle or joint dysfunction. Additionally, sirolimus, an mTOR inhibitor, has shown promise in symptom relief, although further research is needed to confirm its long-term efficacy. Early diagnosis and treatment are essential for improving the quality of life in FAVA patients. Advances in imaging and treatment strategies have enhanced the ability to manage this complex and rare condition effectively.

PA09 Clinical characterization of a cohort of KRAS-associated low-flow vascular anomalies

PA09 Clinical characterization of a cohort of KRAS-associated low-flow vascular anomalies

Unveiling The Myth of High Recurrence Rate of Extracranial Arteriovenous Malformations of The Head and Neck: Systematic Review of Case Reports and Case Series

Background Arteriovenous malformations (AVMs) in the head and neck pose a challenge in their management due to their local aggressiveness and high recurrence risk. This study aimed to analyze literature on head and neck AVM recurrence post-treatment and identify the most effective strategy with a lower recurrence rate. Objectives To analyse existing literature on the recurrence of head and neck AVMs following treatment. Our goal was to identify the most effective treatment option with a lower recurrence rate. Methods We conducted a thorough literature search using PubMed, ScienceDirect, and Scopus, from year 2000 to the present. Our analysis focused on key endpoints, specifically the recurrence rates of head and neck AVMs following various treatment approaches. Results Out of the initial pool of 108 screened articles, a total of 83 patients were deemed suitable for inclusion in the literature review. The reviewed articles demonstrated that appropriate diagnostic tests were documented in 95% of the included studies. Among the patients, 37.3% had previously undergone interventions and were currently dealing with regrowth masses. Notably, 56.6% of patients underwent a combined approach involving both endovascular and surgical methods, while 25.3% opted for a surgical-only approach, and only 18.1% pursued an endovascular-only approach. The studies showed a promising curing rate of AVMs, with a success rate of 94%, albeit with a complication rate of 32.5%. The average follow-up duration for all patients was 26 months, with a standard deviation of 20.5 months. Out of the 83 patients, 5 experienced recurrence, with single-modality approach. Interestingly, no patients who received a multi-modality of treatments experienced recurrence or regrowth of the AVM mass within the follow up period. Conclusion The multi-modality approach outperformed single-modality treatments in preventing AVM recurrence. These findings highlight the importance of a comprehensive and multidisciplinary approach in the management of these complex vascular anomalies. PROSPERO: CRD42023490871 registered on 17/12/2023

Microneedle delivery system with rapid dissolution and sustained release of bleomycin for the treatment of hemangiomas

Hemangioma of infancy is the most common vascular tumor during infancy and childhood. Despite the proven efficacy of propranolol treatment, certain patients still encounter resistance or face recurrence. The need for frequent daily medication also poses challenges to patient adherence. Bleomycin (BLM) has demonstrated effectiveness against vascular anomalies, yet its use is limited by dose-related complications. Addressing this, this study proposes a novel approach for treating hemangiomas using BLM-loaded hyaluronic acid (HA)-based microneedle (MN) patches. BLM is encapsulated during the synthesis of polylactic acid (PLA) microspheres (MPs). The successful preparation of PLA MPs and MN patches is confirmed through scanning electron microscopy (SEM) images. The HA microneedles dissolve rapidly upon skin insertion, releasing BLM@PLA MPs. These MPs gradually degrade within 28 days, providing a sustained release of BLM. Comprehensive safety assessments, including cell viability, hemolysis ratio, and intradermal reactions in rabbits, validate the safety of MN patches. The BLM@PLA-MNs exhibit an effective inhibitory efficiency against hemangioma formation in a murine hemangioma model. Of significant importance, RNA-seq analysis reveals that BLM@PLA-MNs exert their inhibitory effect on hemangiomas by regulating the P53 pathway. In summary, BLM@PLA-MNs emerge as a promising clinical candidate for the effective treatment of hemangiomas.Graphical

Acquired High Flow Arteriovenous Malformation of the Lower Lip Induced by Hormonal Variation- Report of a Rare Case and Review

Arteriovenous malformations (AVMs) are uncommon vascular lesions. AVMs are the most serious type of vascular malformations, causing substantial deformity and functional disability. AVMs of the acquired type are rarely confronted in the head and neck region. They may present as a medical emergency while performing dental procedures due to their potential for uncontrollable haemorrhage. Dental professionals should be aware of their potentially fatal complications and management. Accurate diagnosis of AVMs is critical and their management remains challenging. Vascular anomalies involving the lips can negatively impact the functionality and facial appearance. In this article, we discuss a very rare case of acquired AVM of the lower lip triggered by hormonal variation occurring during menopause in a female patient, 58 years of age. There are no reported cases of acquired AVM of the lip with hormonal variation occurring during menopause as the trigger for proliferation of the lesion. An overview of the clinical, etiological, diagnostic and management aspects of head and neck region-acquired AVMs is also presented in this paper.

Diagnostic approach to hepatic vascular lesions: a paediatric perspective.

The pathological evaluation of hepatic vascular lesions in children requires special consideration. Inconsistent terminology, rarity of pathology specimens and overlapping pathological features between various lesions may pose a serious diagnostic challenge. In this review, we highlight the importance of using the International Society for the Study of Vascular Anomalies (ISSVA) classification scheme to characterise these lesions. Selected entities are discussed, including hepatic vascular tumours exclusively seen in the paediatric age group, hepatic infantile haemangioma and hepatic congenital haemangioma. Vascular malformations, with emphasis on their syndromic associations (venous malformation in blue rubber bleb naevus syndrome) and complications (hepatocellular nodules in Abernethy malformation) are also covered.

Airway Management of Intracranial Aneurysms Associated with Nasopharyngolaryngeal Hemangioma: A Case Report

Intracranial aneurysm is a very common disease, which is an abnormal bulge on the wall of intracranial artery. It is the first cause of subarachnoid hemorrhage. With the development of imaging, the disease is easily diagnosed. A 60-year-old man was diagnosed with anterior communicating artery aneurysm and underwent aneurysm clipping. During routine induction of anesthesia, a nasopharyngolaryngeal hemangioma was visualized under a video laryngoscope. This poses a serious challenge for tracheal intubation. With the assistance of a video laryngoscope and local anesthesia with lidocaine, a 6.5# reinforced endotracheal tube was inserted. Nasopharyngolaryngeal hemangioma is a congenital vascular anomaly characterized by proliferation of endothelial cells. The incidence of infantile and childhood hemangiomas is low, and most spontaneously resolve by the age of 4 to 6 years. Adult nasopharyngolaryngeal hemangioma are extremely rare and are residual lesions from infancy and childhood. Although nasopharyngolaryngeal hemangioma does not clearly affect the quality of life of patients, intracranial hemangioma has caused blurred vision and decreased vision. Therefore, surgery for intracranial aneurysm was necessary for this patient. This case emphasizes the management of unplanned difficult airway of pharyngeal hemangioma and the emergency plan for hemangioma rupture and bleeding. Provide guidance and risk management procedures for nasopharyngotracheal intubation.

New Insights into Cervicofacial Vascular Anomalies.

Congenital cervicofacial vascular anomalies are extremely rare and present many difficulties in diagnosis and treatment requiring a multidisciplinary approach. Firstly, there is little consensus on this subject among head and neck specialists. There are two main types of vascular anomalies: vascular tumors and vascular malformations. Vascular malformations are also divided into malformations with slow blood flow (veins, lymphatics, capillaries or combined) and malformations with a fast blood flow (arteriovenous malformations and fistula). Vascular tumors like hemangiomas are known for their spontaneous involution with aging, while vascular malformations grow in dimensions with age. It is very important to choose the correct differential diagnosis between cervicofacial hemangiomas and vascular malformations for proper therapy management. Anamnesis and clinical exams help in raising suspicions about the real nature of a cervico-vascular anomaly. Furthermore, imaging brings in-depth details of the anomaly, ranging from ultrasound and contrast CT to MRI scanning and minimally invasive angiography. Angiography with selective embolization is rarely a curative procedure for arteriovenous malformations, being more suitable as a preliminary step before attempted surgical removal. Surgery is clearly necessary when there are aesthetic and functional deficits. Slow-flow vascular malformations present a reduced morbidity, and in cases without involution, the surgical ablation is reserved for the cases with aesthetic dysfunctions or psychological trauma. Lymphatic malformations must undergo surgical ablation when they are associated with mass effects and compression of great vessels or aerial viscera. The prognosis after surgical removal is good, with a low rate of recurrence or morbidity. Fast-flow vascular malformations require a combined approach, with embolization and excision in the next 48 h for safety reasons. Removal may be followed by reconstructive surgery depending on the location and dimensions of the malformation, with a possible secondary recovery of the normal microscopic vessels. Some of the masses may hinder the normal airflow and swallowing. Pathology is the gold standard for confirming the clinical and imaging diagnosis.

Multidisciplinary Fusion: A recurrent expansive prevertebral vascular anomaly with EWSR1::NFATC2 fusion

Multidisciplinary Fusion: A recurrent expansive prevertebral vascular anomaly with EWSR1::NFATC2 fusion

Imaging Assessment of Fetal Cerebrovascular Anomalies.

Four distinct vascular anomalies can be seen to affect the brain on fetal imaging: vein of Galen malformations, non-galenic arteriovenous pial fistulas, dural sinus malformations, and intracranial venous malformations. These congenital disorders affect the arteries and veins of the developing brain and are rarely seen beyond the neonatal stage. The four fetal cerebrovascular anomalies are associated with quite disparate natural histories and prognoses. MRI plays a pivotal role in the evaluation of fetuses with these conditions due to its ability to definitively establish the diagnosis, to detect subtle parenchymal injuries, to delineate the course of abnormal vessels in detail and to some extent the nature of vascular flow, and to identify ischemic, thrombotic, and hemorrhagic complications. Recently, an investigational transurterine embolization procedure targeted at treating fetuses with vein of Galen malformations who are at high risk for neonatal decompensation has emerged as a promising alternative to expectant management and post-natal embolization, with imaging being used to identify suitable patients for the intervention and in pre-procedural planning. This manuscript reviews the essential imaging and clinical features of these four fetal neurovascular anomalies and underscores the practical aspects related to counseling, prognosis, and the multidisciplinary management of these entities.ABBREVIATIONS: ACVRL1= activin A receptor like type 1; b-SSFP=Balanced Steady State Free precession; DSM= Dural Sinus Malformation; Ephrin B4= Ephrin type-B receptor 4; icVM= Intracranial Venous Malformation; ITGB1= Integrin Subunit Beta 1; NOTCH1= Neurogenic locus notch homolog protein 1; PTPN11= Protein Tyrosine Phosphatase Non-Receptor Type 11; RASA1= RAS P21 Protein Activator 1; SSFSE= Single-shot fast spin echo; VOGM=Vein of Galen Malformation.

The current landscape of machine learning-based radiomics in arteriovenous malformations: a systematic review and radiomics quality score assessment.

Arteriovenous malformations (AVMs) are rare vascular anomalies involving a disorganization of arteries and veins with no intervening capillaries. In the past 10 years, radiomics and machine learning (ML) models became increasingly popular for analyzing diagnostic medical images. The goal of this review was to provide a comprehensive summary of current radiomic models being employed for the diagnostic, therapeutic, prognostic, and predictive outcomes in AVM management. A systematic literature review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines, in which the PubMed and Embase databases were searched using the following terms: (cerebral OR brain OR intracranial OR central nervous system OR spine OR spinal) AND (AVM OR arteriovenous malformation OR arteriovenous malformations) AND (radiomics OR radiogenomics OR machine learning OR artificial intelligence OR deep learning OR computer-aided detection OR computer-aided prediction OR computer-aided treatment decision). A radiomics quality score (RQS) was calculated for all included studies. Thirteen studies were included, which were all retrospective in nature. Three studies (23%) dealt with AVM diagnosis and grading, 1 study (8%) gauged treatment response, 8 (62%) predicted outcomes, and the last one (8%) addressed prognosis. No radiomics model had undergone external validation. The mean RQS was 15.92 (range: 10-18). We demonstrated that radiomics is currently being studied in different facets of AVM management. While not ready for clinical use, radiomics is a rapidly emerging field expected to play a significant future role in medical imaging. More prospective studies are warranted to determine the role of radiomics in the diagnosis, prediction of comorbidities, and treatment selection in AVM management.