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BACKGROUND: Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for organ vascular malformations including arteriovenous malformations (AVMs) in the brain and lungs. North American HHT Centers of Excellence (CoEs) routinely screen for brain and lung AVMs, with the primary goal of detecting AVMs which can be treated before complications arise. Current international HHT guidelines provide recommendations for initial screening for brain and lung AVMs among children and adults with the disease, but rescreening recommendations are not comprehensively addressed and have not been reported. We determined current rescreening practices for brain and lung AVMs for children and adults with HHT among North American HHT CoEs. METHODS: We surveyed North American HHT CoEs regarding rescreening practices for new brain and lung AVMs in children and adults with initial negative screening. RESULTS: All thirty CoEs responded; 28 regarding pediatric (93.3%) and 30 (100%) regarding adult HHT care. The median duration of practice experience in HHT was 11.5 (range 3-30) years for providers of pediatric HHT care and 11.5 (range 3-35) years for providers of adult HHT care. The median number of patients followed at each CoE was 60 for children (range 8-500) and 375 for adults (range 30-1500). 25/28 CoEs (89.3%) reported rescreening children for brain AVMs, most commonly with enhanced MRI (21/25, 84%). 25 CoEs rescreen children for lung AVMs, most commonly every 5 years (15/25). Only 4/30 CoEs (13.3%) rescreen adults for brain AVMs. 26/30 CoEs (86.7%) reported rescreening adults for lung AVMs, most commonly every 5 years (18/26, 69.2%). CONCLUSIONS: Most HHT CoEs routinely rescreen children for brain and lung AVMs and adults for lung AVMs when initial screening is negative, but adults are infrequently rescreened for brain AVMs. Long-term data regarding risk for new brain and lung AVMs are required to establish practice guidelines for rescreening.

BACKGROUND: Diffusion tensor imaging (DTI) can characterize eloquent white matter tracts affected by brain arteriovenous malformations (AVMs). However, DTI interpretation can be difficult in ruptured cases due to the presence of blood products. The authors present the case of a ruptured pediatric AVM in the corticospinal tract (CST) and discuss how DTI at different time points informed the treatment. OBSERVATIONS: A 9-year-old female presented with a sudden headache and left hemiparesis. She was found to have a Spetzler-Martin grade III, Supplementary grade I AVM in the right caudate and centrum semiovale, with obliteration and corresponding reduced fractional anisotropy (FA), fiber density (FD), and tract count (TC) of the adjacent CST on DTI. The patient remained stable and was scheduled for elective resection following a 6-week period to facilitate hematoma resorption. After 6 weeks, repeat DTI showed part of the nidus within intact CST fibers with concordant improvement in FA, FD, and TC. Considering the nidus location, CST integrity, and motor function recovery, surgery was deferred in favor of stereotactic radiosurgery. LESSONS: In ruptured AVMs, DTI may initially create an incomplete picture and false assumptions about white matter tract integrity. DTI should be repeated if delayed treatment is appropriate to ensure informed decision-making and prevent avoidable permanent neurological deficits. https://thejns.org/doi/10.3171/CASE24225.

Myeloid immune cells are abundant in both ruptured and unruptured brain arteriovenous malformations (bAVMs). The role of central nervous system (CNS) resident and circulating monocyte-derived macrophages in bAVM pathogenesis has not been fully understood. We hypothesize that CNS resident macrophages enhance bAVM development and hemorrhage. RNA sequencing using cultured endothelial cells (ECs) and mouse bAVM samples revealed that downregulation of two bAVM causative genes, activin-like kinase 1 (ALK1) or endoglin, increased inflammation and innate immune signaling. To understand the role of CNS resident macrophages in bAVM development and hemorrhage, we administrated a colony-stimulating factor 1 receptor inhibitor to bAVM mice with brain focal Alk1 deletion. Transient depletion of CNS resident macrophages at an early stage of bAVM development mitigated the phenotype severity of bAVM, including a prolonged inhibition of angiogenesis, dysplastic vasculature formation, and infiltration of CNS resident and circulating monocyte-derived macrophages during bAVM development. Transient depletion of CNS resident macrophages increased EC tight junction protein expression, reduced the number of dysplasia vessels and severe hemorrhage in established bAVMs. Thus, EC AVM causative gene mutation can activate CNS resident macrophages promoting bAVM progression. CNS resident macrophage could be a therapeutic target to mitigate the development and severity of bAVMs.

The classification and understanding of vascular anomalies have significantly evolved since the initial framework by Mulliken and Glowacki, distinguishing between vascular tumours and malformations. Recent advancements in molecular diagnostics have enhanced the accuracy of identifying and managing these complex lesions. This review provides an updated analysis of select vascular anomalies, focusing on Kaposiform hemangioendothelioma (KHE), Kaposiform lymphangiomatosis (KLA), and intramuscular fast‐flow vascular anomalies. It highlights the similarities and differences between these lesions, their histopathological features, and molecular underpinnings, including key genetic mutations in the RAS/PI3K/mTOR signalling pathways. Moreover, the role of PIK3CA mutations in vascular overgrowth syndromes is explored, alongside emerging targeted therapies, such as PI3K and MEK inhibitors, that promise improved outcomes for patients with these challenging conditions. The integration of histology, molecular diagnostics, and multidisciplinary care remains critical for the accurate diagnosis and optimal treatment of vascular anomalies in the era of precision medicine. [ABSTRACT FROM AUTHOR]

This article provides a comprehensive review of literature in the field of vascular anomalies from 2023 to 2024, focusing on innovative research findings. It covers new mechanisms, applications of new materials, novel diagnostic and classification concepts, and therapeutic advancements. Arranged according to the ISSVA classification and the "Guidelines for the Diagnosis and Treatment of Hemangiomas and Vascular Malformations (2024)" by the Group of Vascular Anomalies, Chinese Society of Plastic Surgery, Chinese Medical Association, the article introduces the diagnosis and treatment updates for each classified disease. It particularly emphasizes cutting-edge advancements in basic research, preclinical studies, genetics, and targeted therapies. The article presents a series of promising new discoveries and conclusions, aiming to stimulate clinical interest and encourage a deeper commitment to mechanistic research. [ABSTRACT FROM AUTHOR]

Background/Objectives: Arteriovenous malformations (AVMs) are complex vascular anomalies that can present with significant complications, including intracranial hemorrhage. This report presents the case of a 36-year-old female with Prothrombin G20210A mutation-associated thrombophilia, highlighting its potential impact on AVM pathophysiology and management. Methods: The patient presented with a right paramedian intraparenchymal frontal hematoma, left hemiparesis, and seizures. Cerebral angiography identified a ruptured right parasagittal frontal AVM classified as Spetzler–Martin Grade II. A right interhemispheric frontal craniotomy was performed, enabling microsurgical resection of the AVM. Intraoperative findings included evacuation of a subcortical hematoma and excision of a 20 mm AVM nidus with arterial feeders from the A4 segment of the anterior cerebral artery and a single venous drainage into the superior sagittal sinus. Results: Postoperative recovery was favorable, with significant neurological improvement. The patient demonstrated resolution of hemiparesis and a marked reduction in seizure activity. The hypercoagulable state associated with Prothrombin G20210A mutation was identified as a contributing factor in the thrombosis of the AVM's draining vein, potentially leading to increased venous pressure, rupture, and hemorrhage. Conclusions: This case underscores the importance of recognizing thrombophilia in patients with AVMs for optimal surgical planning and complication management. Despite the challenges posed by the hypercoagulable condition, microsurgical resection proved to be a viable and effective treatment option. Further research is warranted to elucidate the relationship between thrombophilic disorders and AVMs to enhance patient management strategies and outcomes. [ABSTRACT FROM AUTHOR]

Only a few articles have been published about the lateral posterior choroidal artery (LPChA), and yet none of them contains data regarding the thalamic branches. Methods: The LPChA and its twigs of the 26 cerebral hemispheres were injected with a mixture of a 10% Indian ink and gelatin. Following fixation in a 10% formaldehyde solution, the vessels were micro dissected under the stereoscopic microscope. In addition, serial cerebral angiograms of the 168 patients were examined. The LPChA, which was commonly singular or double and averaged 0.68 mm in diameter, most often originated from the P2 and P3 segments (76%) of the posterior cerebral artery (PCA). It always gave off the choroidal, pulvinar and typical thalamic branches, occasionally the parahippocampal (4%), hippocampal (8%), peduncular (8%), tegmental (12%), pretectal (4%), lateral geniculate (40%) and medial geniculate twigs (16%), and the forniceal, subependymal (100%), stria terminalis (32%), and caudate twigs (28%). The pulvinar and thalamic branches averaged almost 4 in number and 0.27 mm in diameter. They most often supplied the pulvinar nuclei, and occasionally portions of the mediodorsal, lateral dorsal, lateral posterior, ventral lateral, and the ventral posterior thalamic nuclei. Among the 168 serial cerebral angiograms, one presented the arteriovenous malformation of the LPChA, but no one showed an aneurysm. This is the first description of the LPChA thalamic branches to date. Their microanatomic features are important for understanding the neurologic symptoms following vessels occlusion, for precise radiologic diagnoses, and for safe neurosurgical and endovascular interventions. [ABSTRACT FROM AUTHOR]

Postpartum hemorrhage can occur because of different conditions. Apart from placental remnants and uterine atony, less common causes include uterine rupture, placental polyps, arteriovenous malformations, and pseudoaneurysms. Ultrasound plays a key role in the precise definition of the underlying pathology, which is necessary to initiate the appropriate therapy. It also helps to depict intraabdominal hematomas and uterine scar dehiscence, 2 conditions that do not necessarily lead to postpartum hemorrhage but are associated with increased maternal morbidity. This article presents 52 ultrasound images together with clinical and histopathologic images to give an overview of both frequent and rare pathologies in the postpartum period. [ABSTRACT FROM AUTHOR]

Venous malformations (VM) are slow-flow vascular lesions that result from morphogenesis errors. Composed of dysfunctional veins lacking smooth muscle cells, VMs grow slowly and may initially be managed by observation. Treatment is indicated for lesions that cause functional impairment. One treatment option is laser therapy, which is very effective due to its tissue penetration and relative selectivity. The Nd:YAG laser has been shown to treat small and moderately sized mucosal vascular lesions; in this case, it was applied in a staged approach for treatment of a massive venous malformation of the tongue. A 66-year-old male presented with a venous malformation involving the tongue and lower lip, the lesion estimated to be 10 x 14 x 15 cm in size. The Nd:YAG laser was used in three separate stages to photocoagulate the venous lesion. Follow-up for recurrence is ongoing, but currently shows complete malformation ablation with a 36.2% volume reduction after treatment. The Nd:YAG laser is an effective tool in the treatment of large vascular lesions. Successful laser application in a staged approach for the treatment of a venous malformation of this size and complexity further supports its clinical value. Monitoring for possible recurrence of the venous malformation should be ongoing. [ABSTRACT FROM AUTHOR]

Background: Hemorrhagic brain micro-arteriovenous malformations (micro-AVMs) are considered to constitute a relatively significant portion of pediatric AVMs, though they are often associated with a low bleeding rate, as seen in hereditary hemorrhagic telangiectasia, which frequently involves multiple micro-AVMs. Case summary: We present a rare case of a 10-year-old girl with multiple hemorrhagic micro-AVMs. Intraoperative findings during the emergency operation for hematoma evacuation and post-operative superselective angiography highlighted the unique angioarchitecture of three micro-AVMs (two lesions in the superficial areas and one lesion in the deep-seated area) and the atypical bleeding source due to the complex congestive venous drainage system. One micro-AVM was successfully occluded by a transarterial emboliozation, and remaining two micro-AVMs underwent gamma knife irradiation as a salvage therapy. Conclusion: Superselective angiography is crucial for detecting micro-AVMs, offering detailed insights into small, localized abnormal vascular drainage systems, and guiding therapeutic strategy. Additionally, micro-AVM-associated unique vascular hypersensitivity, such as vasospasm, requires careful consideration, as invasive procedures may significantly alter the visibility of the entire micro-AVM network. [ABSTRACT FROM AUTHOR]

Background: Brain arteriovenous malformations (bAVMs) are vascular lesions that commonly present with intracranial haemorrhage. Pregnancy has been associated with an increased risk of bAVM rupture. However, their natural history in pregnant women is uncertain. Case description: A 27-year-old female at 28 weeks of gestation presented with a compromised neurological status secondary to a ruptured left frontal Spetzler-Martin scale (SM) III + bAVM. An emergent caesarean section was performed due to the high risk of foetal distress. Endovascular treatment successfully controlled the bleeding site, and stereotactic radiosurgery was offered as a subsequent treatment option. Conclusion: bAVMs should be considered in pregnant women with intracranial haemorrhage. The management of these lesions during pregnancy is controversial. Surgical risk and foetal development should be considered when selecting a management strategy. [ABSTRACT FROM AUTHOR]

Background: Cerebral arteriovenous malformations (AVMs) have historically been considered congenital lesions with treatment options including surgery, radiation therapy, and observation. Spontaneous resolution of cerebral AVMs remains an exceedingly rare event with poorly understood pathophysiology. Materials and methods: Herein we report a retrospective case review of a 28-year-old man with alcoholic cirrhosis who presented with a seizure 3 weeks after liver transplantation. Neuroimaging confirmed the presence of a Spetzler–Martin grade 2 AVM in the right frontal lobe. Due to the recent liver transplantation, treatment was deferred at the time of initial diagnosis and the patient was observed for a course of 1 year. Follow-up imaging 1 year later showed resolution of the AVM, confirmed by a catheter angiogram. Conclusion: Spontaneous resolution of cerebral AVMs is a rare event. Treatment of chronic liver disease resulted in the normalization of angiogenic factors that likely led to AVM resolution. This case provides valuable insight into the vital role of angiogenesis in the natural history of AVMs. [ABSTRACT FROM AUTHOR]

Stereotactic radiosurgery (SRS) is widely utilized to treat small- and medium-sized brain arteriovenous malformations (BAVMs); however, radiation-induced malignancies (RIMs) have been reported as extremely rare yet potentially life-threatening complications of SRS. This study aimed to investigate the risk of RIMs after SRS for BAVMs. The outcomes of patients who underwent single-session SRS for BAVMs at our institution and were followed for ≥ 5 years were analyzed to calculate the incidence of RIMs. In addition, a systematic review was conducted using the existing literature reporting RIMs after SRS for BAVMs in compliance with the PRISMA guideline. Regarding the in-hospital analysis, only one (0.18%) RIM (gliosarcoma) was observed among 569 patients, with a median follow-up period of 151 months (interquartile range, 103–255 months). The 15, 20, and 25-year cumulative incidences of RIMs were 0%, 0%, and 1.01%, respectively, whereas the overall incidence rate was 0.12 per 1,000 patient-years. In the systematic review, 14 studies were included, with the incidence of RIMs ranging from 0.00 to 0.24%. Eight patients with RIMs were identified, and the most common pathology was glioblastoma. The median time until the diagnosis of RIM was 7.1 years (range, 4–19 years) after SRS, and their clinical courses were largely dismal, with the post-diagnosis survival periods being 1–10 months. RIM constitutes an extremely rare but potentially fatal complication following SRS for BAVMs, with its incidence rate being at most 0.24%. [ABSTRACT FROM AUTHOR]

The rising prevalence of cesarean sections, abortions, and other surgical interventions involving the uterus has led to an increased incidence of acquired uterine arteriovenous malformations (AVMs). These malformations primarily present as vaginal bleeding, which can significantly impair the quality of life for affected individuals and can pose life‐threatening risks in severe instances. Currently, there exists considerable variability in the clinical manifestations, treatment indications, and outcomes associated with uterine AVMs, which substantially complicates clinical diagnosis and management. In this report, we present five cases of uterine AVM that developed following abortion and were treated at our institution. The patients underwent various treatment modalities, with all but one achieving a high rate of fertility preservation. We underscore the importance of tailoring AVM treatment to factors such as patient age, volume of vaginal bleeding, urgency of the situation, size of the lesion, and fertility aspirations. [ABSTRACT FROM AUTHOR]

Background/Objectives: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal blood vessel formation, leading to recurrent epistaxis, cutaneous and mucosal telangiectases, and visceral arteriovenous malformations (AVMs). Hepatic involvement may result in complications such as high-output heart failure, portal hypertension, and biliary ischemia. We report an uncommon case of ischemic cholecystitis in a patient with HHT. Methods: A 57-year-old male with HHT type 1, including gastric telangiectases and hepatic AVMs, presented with anemia, melena, epigastric pain, and a history of recurrent epistaxis. Imaging revealed gastric telangiectases and liver AVMs, consistent with HHT. Following an episode of severe epistaxis and aspiration pneumonia, the patient developed right upper quadrant pain. Results: Abdominal CT and ultrasound identified thickening of the gallbladder wall, segmental enhancement defects, and a perivesicular fluid effusion, suggestive of acalculous cholecystitis. A laparoscopic cholecystectomy was performed, revealing ischemic cholecystitis with necrotic gallbladder walls. Conclusions: This case underscores the potential for ischemic cholecystitis in patients with HHT and liver involvement, particularly under conditions of acute hemodynamic instability. Clinicians should be vigilant in recognizing this rare complication, especially in patients with established HHT and associated hepatic vascular anomalies. [ABSTRACT FROM AUTHOR]

Surgical timing after rupture of brain arteriovenous malformations (AVMs) is controversial. There is scarce literature on AVM surgical outcomes from developing countries. This study aims to determine if there is a difference between early and delayed surgical resection for patients with ruptured brain AVMs. This single-center retrospective review included patients who underwent surgical resection for ruptured brain AVMs in Colombia. Patients were stratified by the timing of surgical intervention relative to the rupture into early (≤72 hours of bleeding) and delayed (>72 hours) resection. Continuous variables were analyzed using an independent t -test, and dichotomous variables were analyzed using a χ2 test. A linear regression analysis was performed with the final mRankin score at 2 years as the dependent variable; P < 0.05 was considered significant. Thirty-one patients were identified. The early treatment group included 14 (45.2%) patients, and the delayed group included 17 (54.8%) patients. The mean (SD) length of time between AVM rupture and surgical resection was 1.6 ± 1.2 days and 12.4 ± 8.4 days, respectively (P < 0.001). There were no differences regarding demographics, perioperative variables, and postoperative outcomes between groups. In the linear regression analysis, the only variable that had a significant association with the final mRankin score was the initial Glasgow Coma Scale, which had a β coefficient of −0.6341 (95% confidence interval: -0.41,-0.017, P = 0.035). In this case series of 31 patients from a developing country, there were no differences in clinical outcomes at the final follow-up between acute and delayed surgical interventions for ruptured AVMs. The most important factor associated with the final outcomes was the initial Glasgow Coma Scale. [ABSTRACT FROM AUTHOR]

Background: Intracranial AVMs are a highly heterogeneous group of lesions that, while not very common, can pose significant risks. The therapeutic management of AVMs is complicated by ambiguous guidelines, particularly regarding which Spetzler–Martin grades should dictate specific treatment options. This study analyzed the clinical presentations and treatment approaches of 128 brain AVM cases managed between 2014 and 2022 at the National Institute of Neurology and Neurovascular Diseases in Bucharest, Romania. Methods: A retrospective analysis was conducted on patient demographics, clinical symptoms, Spetzler–Martin categorization, nidus localization, therapeutic management, and outcomes. Statistical analysis was performed using Python 3.10. Results: In our cohort of patients, the median age was 45 years, with a slight male predominance (67 males, 61 females). At admission, 51.5% presented with elevated blood pressure. The majority of patients had a Spetzler–Martin score of 2 (37.5%), followed by scores of 3 (31.3%) and 1 (20.3%). Treatment strategies included microsurgical resection in 32% of cases, conservative management in 31.2%, Gamma Knife radiosurgery in 22.6%, and endovascular embolization in 13.3%. Notably, open surgery was predominantly chosen for Grade II AVMs. The functional outcomes were favorable, with 69.5% achieving a good recovery score on the Glasgow Outcome Scale. Only four in-hospital deaths occurred, all in patients who underwent open surgery, and no deaths were recorded during the two-year follow-up. Conclusions: AVMs within the same Spetzler–Martin grade display considerable complexity, necessitating personalized treatment strategies. Our findings highlight the limitations of open surgery for Grade I cases but affirm its effectiveness for Grade II AVMs. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Not only germline but also postzygotic mutations in the RASA1 or EPHB4 genes can lead to capillary malformation‐arteriovenous malformation (CM‐AVM) syndrome. As it is not always possible to clinically distinguish between constitutional variants and postzygotic mosaicism, a sufficiently high sequencing depth must be used in genetic diagnostics to detect both. Capillary malformation‐arteriovenous malformation (CM‐AVM) syndrome, with or without Parkes Weber syndrome, is a rare autosomal dominant disease caused by pathogenic RASA1 or EPHB4 variants. Up to 80% of CM‐AVM cases have an affected parent. Gene panel sequencing was performed for a 4‐year‐old girl with multiple CMs, two capillary stains on the left leg, and associated overgrowth of the second toe. We also reviewed published cases with mosaic RASA1 and EPHB4 mutations. A mosaic RASA1 loss‐of‐function mutation was detected with a variant allele frequency (VAF) of 20% in the blood and oral epithelial cells of the index patient. The literature review illustrates that the severity of the clinical phenotype does not correlate with the VAF. We also identified a germline nonsense variant in the patient's TEK gene. However, inactivating TEK variants do not cause a vascular phenotype but can confer an increased risk for primary congenital glaucoma with variable expressivity. The case presented here illustrates that the choice of the sequencing depth of a diagnostic next‐generation sequencing test for CM‐AVM patients should always take mosaicism into account and that a good knowledge of the sequenced genes and associated disease mechanisms is necessary for adequate genetic counseling. [ABSTRACT FROM AUTHOR]

The article discusses a case of a 10-day-old newborn with a rare congenital intracranial arteriovenous defect known as Vein of Galen malformation (VGAM), which led to high-output heart failure. The patient presented with symptoms of respiratory distress, fatigue during feeding, and was diagnosed with acute RSV bronchiolitis initially. Imaging examinations were crucial in establishing the diagnosis and prognosis, leading to endovascular treatment that ultimately improved the patient's condition. The article highlights the importance of early diagnosis, multidisciplinary care, and advancements in treatment options for improving outcomes in patients with VGAM. [Extracted from the article]

Arteriovenous Malformations are complex and challenging entities, and their treatment is often tailored on the patient. Interstitial sclerosing treatment with bleomycin is promising especially in cases where the aesthetical and/or functional burden of surgical intervention would be impactful as in the S3 AVM according to the SECg classification. We treated 15 patients presenting small (<10cm3) S3 arterio-venous malformations with 3 + 3 sessions of 15.000 IU of interstitial bleomycin. 9 patients presented moderate to good response to the first 3 sessions and thus surgical re-shaping was performed between the two cycles. US examination was done pre-treatment, before each session and every 3 months after the end of the protocol to assess the arterio-venous malformations. Fifteen of the seventeen patients concluded the protocol. 9 patients underwent surgical re-shaping while 6 skipped it because of their excellent response to the first 3 bleomycin injections. Major improvement in terms of appearance and symptoms (pulsations, ulcerations, bleeding or pain) were always achieved. There was a 20% of minor complications. The presented data are encouraging and seem to suggest that this may be a promising protocol to extend the use of bleomycin in arterio-venous malformations and reduce the impact of surgery. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background This study aimed to investigate the natural history of re-rupture in ruptured brain arteriovenous malformations (AVMs) and to provide comprehensive insights into its associated factors and prevention. Methods This study included 1712 eligible ruptured AVMs from a nationwide multicenter prospective collaboration registry between August 2011 and September 2021. The natural rupture risk before intervention and the annual rupture risk after intervention were both assessed. Cox proportional hazard regression models and Kaplan-Meier survival curves were used to explore independent factors associated with AVM re-rupture. The correlation between these factors and AVM re-rupture was verified in multiple independent cohorts, and the prevention effect of intervention timing and intervention strategies on AVM re-rupture was further analyzed. Results The annual re-rupture risk in ruptured AVMs was 7.6%, and the cumulative re-rupture risk in the first 1, 3, 5, and 10 years following the initial rupture were 10%, 25%, 37.5%, and 50%, respectively. Cox proportional hazard regression analysis confirmed adult patients, ventricular system involvement, and any deep venous drainage as independent factors associated with AVM re-rupture. The intervention was found to significantly reduce the risk of AVM re-rupture (annual rupture risk 11.34% vs 1.70%, p<0.001), especially in those who underwent surgical resection (annual rupture risk 0.13%). Conclusions The risk of re-rupture in ruptured AVMs is high. Adult patients, ventricular system involvement, and any deep venous drainage are independent risk factors for re-rupture. Applying the results universally to all ruptured AVM cases may be biased. Intervention could effectively reduce the risk of re-rupture. [ABSTRACT FROM AUTHOR]

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited vascular disorder that can involve multiple organs, thus can be associated with so many clinical departments that proper screening and diagnosis of HHT are needed for providing better management of both patients and their family members. Case presentation: We present a 58-year-old female patient with recurrent paradoxical brain embolism due to HHT. She received aspirin therapy and underwent pulmonary arteriovenous malformation embolization, recovering well and discharged 3 days postoperatively. Though ischemic stroke caused by HHT-induced vascular disorders has been reported, our patient presented with both recurrent paradoxical brain embolisms and radiologic findings of bilateral globus pallidus manganese deposition at the same time, a combination rarely reported. We also review the literature on the clinical features and management of HHT for prompt diagnosis of this genetic disease behind paradoxical embolism. Conclusions: When patients with ischemic stroke, especially recurrent ischemic stroke, have combined arteriovenous malformations (AVMs) in single or multiple organs, or clues for AVMs like manganese deposition in globus pallidus, genetic diseases such as HHT may be the reason for ischemic stroke and shouldn't be missed in the evaluation of embolic sources. [ABSTRACT FROM AUTHOR]

Both arteriovenous malformation (AVM) and trisomy 21 are rare diseases. Studies have shown that individuals with trisomy 21 may have potential vascular malformations, with the main site of onset being the portal system. This case involved an adult patient with trisomy 21 who presented with pelvic iliac arteriovenous malformations. The patient underwent interventional treatment, and the prognosis was favorable. It is important to enhance the screening for vascular malformations in patients with trisomy 21 syndrome. At the same time, interventional treatment for AVMs is effective and increasingly important for managing AVMs. [ABSTRACT FROM AUTHOR]

Background Objectives Methods Results Conclusions Capillary malformation–arteriovenous malformation (CM‐AVM) is a rare genetic disorder characterized by multiple small capillary malformations (CMs) and arteriovenous malformations (AVMs), which has been linked with pathogenic variants in RASA1 and EPHB4. However, more data are needed to explore the phenotypic characteristics and the association between genotypes and clinical phenotypes.Our aim was to investigate the phenotypic and genetic characteristics of CM‐AVM in East Asians, identify potential unique phenotypes, and conduct genotype–phenotype association analyses.This is a single‐center study prospectively collecting CM‐AVM patients' clinical data, with genetic data from blood or tissue samples.A total of 59 patients were enrolled. Thirty‐two individuals had a leading CM greater than Schobinger stage II. The trigeminal nerve branches and greater auricular, transverse cervical, and lesser occipital nerves' somatosensory innervation zones divided head and neck CMs into six zones: V1, V2, V3, GA, TC, and LO zones. GA, TC, and LO zones had a positive correlation with one another but a negative correlation with V2 zone involvement. The RASA1 and EPHB4 pathogenic variants were detected in 41 out of 59, which showed two types of variant allele frequency (VAF) distributions. VAF above 30% made RASA1 pathogenic variants more susceptible to multifocal CMs than those below 30%.Leading CMs in the head and neck exhibit two segmentation patterns, anterior and lateral, which may differ in ear involvement and progression. Germline RASA1 pathogenic variants increased multifocal CM risk more than the somatic variants. [ABSTRACT FROM AUTHOR]

Introduction: Cerebral arteriovenous malformations (AVMs) carry a rupture rate of 2–3% per year. Several architectural factors may influence rupture rate, and a recently theorized model of AVMs describes the influence of vessel wall inflammation. A novel imaging modality, vessel wall imaging (VWI), has been developed to view inflammatory processes in vessel wall foci but has not yet been examined in AVMs, which is the aim of this study. Methods: This retrospective review studies prospectively collected data on patients with ruptured and unruptured AVMs between 2019 and 2021. Inclusion criteria included adult patients (≥18 years) with radiographically diagnosed AVM who underwent VWI. Charts were reviewed for medical history, clinical presentation, hospital course, discharge condition, and follow-up. Angioarchitectural features, blood flow, and VWI were compared in patients with and without hemorrhagic patients. Results: Nine patients underwent VWI, mean age 37.7 ± 9.9 years. Four presented with hemorrhage (44.4%). Seven (77.7%) received glue embolization and 6 (66.7%) underwent surgical resection. All patients (4/4) with a history of hypertension presented with hemorrhage (p = 0.0027). Size and Spetzler-Martin grade were not associated with hemorrhage (p = 0.47, p = 0.59). Net AVM flow was higher in patients presenting with hemorrhage, although nonsignificant (p = 0.19). With VWI, 3 (75%) hemorrhagic AVMs showed visible nidus and draining veins, and all three demonstrated positive post-contrast wall enhancement in at least one of their draining veins; conversely, of fivenonhemorrhagic AVMs, only 2 (40%) demonstrated post-contrast wall enhancement in any draining vein (p = 0.090). Conclusion: This pilot study successfully demonstrated capture of venous walls in AVMs using VWI. In this study, draining vein enhancement occurred more often in hemorrhagic AVM and in those with higher venous volumetric flow. [ABSTRACT FROM AUTHOR]

Background: Two-dimensional digital subtraction angiography (2D-DSA) and conventional three-dimensional digital subtraction angiography (3D-DSA) are used for the detailed analysis of dural arteriovenous fistula (DAVF). Recently, four-dimensional digital subtraction angiography (4D-DSA), a novel technology, has been attracting attention. The current study aimed to evaluate the capability of 4D-DSA in assessing anatomical angioarchitecture in DAVF. Methods: In total, 10 consecutive patients with DAVF who underwent 3D-DSA and 4D-DSA at a single institution were included in the analysis. Initially, one-slice multiplanar reconstruction (MPR) images obtained via 4D-DSA and 3D-DSA were compared to investigate the visibility of the feeding artery, fistulous point, and draining vein. Next, 4D-DSA images alone were compared and evaluated with and the MPR images of conventional 3D-DSA in terms of diagnosis of the angioarchitecture. Results: In total, six men and four women (with a mean age of 65.6 ± 10.0 years) were included in the study. The MPR image obtained via 3D-DSA had a significantly better visibility of the feeding artery and fistulous point than that acquired via 4D-DSA (p < 0.05). As for the draining vein, the score was equivalent and not significant. The diagnosis of the vascular architecture of only 4D-DSA images was nearly equivalent to that of MPR images of 3D-DSA. There were no inter-rater differences. Conclusion: The MPR images obtained via 4D-DSA may be slightly inferior to those acquired via 3D-DSA in identifying fine angioarchitecture in DAVF. However, they were comparable in terms of diagnostic accuracy. [ABSTRACT FROM AUTHOR]

Background: Digital subtraction angiography (DSA) is most commonly used in vessel disease examinations and treatments. We aimed to develop a novel deep learning-based method to deblur the large focal spot DSA images, so as to obtain a clearer and sharper cerebrovascular DSA image. Methods: The proposed network cascaded several residual dense blocks (RDBs), which contain dense connected layers and local residual learning. Several loss functions for image restoration were investigated. Our training set consisted of 52 paired images of angiography with more than 350,000 cropped patches. The testing set included 10 body phantoms and 80 clinical images of different types of diseases for subjective evaluation. All test images were acquired using a large focal spot, and phantom images were simultaneously acquired using a micro focal spot as ground-truth. Peak-to-noise ratio (PSNR) and structural similarity (SSIM) were determined for quantitative analysis. The deblurring results were compared with the original data, and the image quality was subjectively evaluated and graded by two clinicians. Results: For quantitative analysis of phantom images, the average PSNR/SSIM based on the deep-learning approach (35.34/0.9566) was better than that of large focal spot images (30.64/0.9163). For subjective evaluation of 80 clinical patient images, image quality in all types of cerebrovascular diseases was also improved based on a deep-learning approach (p < 0.001). Conclusions: Deep learning-based focal spot deblur algorithm can efficiently improve DSA image quality for better visualization of blood vessels and lesions in the image. [ABSTRACT FROM AUTHOR]

Gestational trophoblastic disease (GTD) refers to a group of pregnancy-related tumors that are recognized as the most curable gynecologic malignancies. Diagnosing GTD can be challenging, particularly after a non-molar pregnancy, due to its various presentations, which may mimic retained products with hypervascularity or arteriovenous malformation. Human chorionic gonadotropin (HCG) serves as an excellent biomarker for monitoring disease progression, response to treatment, and post-treatment surveillance. A plateaued or rising HCG level can facilitate the early detection of progression from complete or partial hydatidiform mole to GTD. Here, we present a case series involving six patients with GTD who initially presented with elevated beta-HCG levels and abnormal bleeding. Of these six patients, five were initially diagnosed with hypervascular retained products following a first-trimester abortion and underwent surgical evacuation. However, due to persistently elevated beta-HCG levels and evidence of myometrial invasion, the diagnosis was later revised to GTD. All patients were successfully managed with chemotherapy. Methotrexate, as a first-line treatment, is effective in achieving complete remission in most non-metastatic and low-risk cases. It has minimal severe toxicity, excellent cure rates, and does not appear to affect fertility. In summary, gestational trophoblastic diseases represent a diagnostic conundrum for clinicians due to their diverse presentations and potential for mimicking other conditions. Nevertheless, when these diseases are identified and managed in a timely manner, the prognosis is highly favorable, underscoring the importance of vigilant monitoring and early intervention. [ABSTRACT FROM AUTHOR]

Objective: To compare and analyze the efficacy and safety of different methods for injecting polidocanol in the treatment of venous malformations. Methods: The medical records of patients with venous malformations in our hospital from April 2021 to April 2023 were analyzed retrospectively, and they were divided into control group (n = 38) and observation group (n = 20) according to different treatment methods. Control group was injected with polidocanol under ultrasound guidance, while observation group was injected with polidocanol under digital subtraction angiography (DSA) monitoring. Therapeutic effects of observation group and control group after 3-6 months of treatment were compared and analyzed, and complications that can be used to reflect the safety of treatment in two groups were collected and recorded. Results: After treatment, the total effective rates of observation group and control group were 97.37% (37/38) and 75.00% (15/20) respectively, with significant differences (both p <.05). After 3-6 months of treatment, 13 complications occurred in observation group, while 16 occurred in control group. The number of complications in observation group was 6, with an incidence rate of 15.78%; while that in control group was 9, with an incidence rate of 45.00%, with a significant difference (p <.05). There were no significant differences among other baseline data, age and complications between two groups (all p >.05). Conclusion: Injection of polidocanol in patients with venous malformations under DSA monitoring was more effective and safer. [ABSTRACT FROM AUTHOR]

Stereotactic radiosurgery (SRS) is an established treatment for brain arteriovenous malformations (AVMs), but outcomes between pediatric and adult populations are not well compared. We conducted a systematic review and meta-analysis comparing SRS outcomes for pediatric versus adult AVMs. PubMed was searched for studies reporting SRS outcomes for pediatric or adult AVMs up to January 2024. Primary outcome was obliteration rate, with secondary outcomes including post-SRS hemorrhage, symptomatic radiation-induced changes (RICs), and permanent RICs. Pooled estimates were calculated using random effects models. Analysis included 22 studies with 3469 patients (1316 pediatric, 2153 adult). Pooled obliteration rate was 63% (95% confidence interval: 56%-70%) overall, with no significant difference between pediatric (61%) and adult (67%) cohorts (P = 0.38). Post-SRS hemorrhage rates were similar (5% pediatric, 6% adult, P = 0.60). Symptomatic RICs occurred in 9% (95% confidence interval: 6%-13%) overall, with 10% in both cohorts (P = 0.91). Permanent RIC rates were 4% in pediatric and 3% in adult cohorts (P = 0.43). Cyst formation (0.6%) and radiation-induced tumors (0.2%) were rare. All-cause mortality was significantly lower in the pediatric cohort (2.6% vs. 9.8%, P = 0.003). Hemorrhagic AVM presentation was inversely correlated with symptomatic RICs across both groups. SRS is a reasonable treatment option for appropriately selected AVM patients in both pediatric and adult populations, offering comparable obliteration rates and adverse event profiles. The lower mortality in pediatric patients underscores the importance of early intervention in this population given their high cumulative lifetime rupture risks. [ABSTRACT FROM AUTHOR]

Cerebral arteriovenous malformations (AVMs) are a challenging pathology in pediatric patients, carrying a high risk of morbidity and mortality. Treatment modalities include resection, endovascular embolization, and stereotactic radiosurgery. There is currently no consensus favoring one modality over another. Timing of multimodal therapy with embolization/stereotactic radiosurgery and resection is not well explored in the literature. We present a series of pediatric patients with AVMs, with special attention directed to the timing of treatment. Electronic medical records of all pediatric patients (<18 years old at treatment) with AVMs treated at our institution were retrospectively reviewed after institutional review board approval. Demographic information, AVM characteristics, treatment variables, and outcomes were recorded. In our cohort of 27 patients, 21 (77.8%) presented with a ruptured AVM. Of these patients, 6 (28.6%) had a Glasgow Coma Scale score of 3–10 and underwent treatment within 24 hours of presentation, and 10 (47.6%) with a Glasgow Coma Scale score of 12–15 were treated between 24 and 120 hours after presentation. The remaining 5 patients (23.8%) were treated 3 weeks to 14 months after AVM rupture. Regardless of rupture status, 96% of our cohort had a modified Rankin Scale score of 1–2 at most recent follow-up. We present our institution's experience with pediatric AVMs, focusing on the timing of treatment. Based on our experience, early treatment of AVMs seems to be safe and effective regardless of rupture status. [ABSTRACT FROM AUTHOR]

This document contains summaries of various research studies in the field of neurosurgery and endovascular treatment. The studies cover a range of topics, including stroke treatment, aneurysm treatment, and other neurovascular conditions. The summaries provide insights into different treatment approaches, outcomes, and potential advancements in the field. They offer an overview of current research in neurosurgery and neurointerventional procedures. [Extracted from the article]

Extra Nasopharyngeal Angiofibromas are rare benign vascular tumors typically affecting adolescent males. They have variable sites of origin. Only five cases of extra nasopharyngeal angiofibroma originating from the middle turbinate have been reported in the literature, here we present the sixth such case. A 44-year-old female presented with a history of left-sided nasal obstruction and spontaneous, profuse and recurrent epistaxis. A contrast-enhanced computed tomography (CT) scan showed a hyper vascular mass arising from the left middle turbinate. A provisional diagnosis of extra nasopharyngeal angiofibroma was made and it was successfully surgically excised using a midfacial degloving approach under general anaesthesia. The diagnosis was confirmed with post-operative histopathological analysis. Due to the extremely rare occurrence of Extra Nasopharyngeal Angiofibromas originating from the middle turbinate and their infrequent presentation in female patients, misdiagnosis poses a greater risk of complications. The surgeon must exercise caution before conducting misguided biopsies, which are contraindicated. [ABSTRACT FROM AUTHOR]

Vascular anomalies affecting the head and neck region pose significant diagnostic and therapeutic challenges due to their varied presentations and potential involvement of critical anatomical structures. This case series presents five cases of vascular malformations encountered at our tertiary care hospital, including capillary malformations, lymphatic malformations, venous malformations, and arteriovenous malformations, each with distinct clinical presentations and management considerations. The importance of a multidisciplinary approach involving specialists from various fields is underscored to ensure optimal patient outcomes. [ABSTRACT FROM AUTHOR]

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs) in internal organs. HHT is caused by inheritance of a loss of function mutation in one of three genes. Although individuals with HHT are haploinsufficient for one of these genes throughout their entire body, rather than exhibiting a systemic vascular phenotype, vascular malformations occur as focal lesions in discrete anatomic locations. The inconsistency between genotype and phenotype has provoked debate over whether haploinsufficiency or a different mechanism gives rise to the vascular malformations. We previously showed that HHT-associated skin telangiectases develop by a two-hit mutation mechanism in an HHT gene. However, somatic mutations were identified in only half of the telangiectases, raising the question whether a second-hit somatic mutation is a necessary (required) event in HHT pathogenesis. Here, we show that another mechanism for the second hit is loss of heterozygosity across the chromosome bearing the germline mutation. Secondly, we investigate the two-hit mutation mechanism for internal organ AVMs, the source of much of the morbidity of HHT. Here, we identified somatic molecular genetic events in eight liver telangiectases, including point mutations and a loss of heterozygosity event. We also identified somatic mutations in one pulmonary AVM and two brain AVMs, confirming that mucocutaneous and internal organ vascular malformations undergo the same molecular mechanisms. Together, these data argue that bi-allelic loss of function in an HHT gene is a required event in the pathogenesis of HHT-associated vascular malformations. Hereditary hemorrhagic telangiectasia is an autosomal-dominant disorder consisting of focal vascular malformations. We show that some malformations acquire a somatic mutation in trans with the germline mutation, leading to bi-allelic gene loss. Others exhibit loss of heterozygosity across the chromosome bearing the germline mutation, supporting a two-hit mutation mechanism of pathogenesis. [ABSTRACT FROM AUTHOR]

Background Confident diagnosis of hepatic hemangioma on imaging can avoid biopsy in early infancy and helps guide conservative management. Purpose This article aims to determine if dynamic contrast-enhanced magnetic resonance imaging (MRI) can be used to differentiate liver hemangioma from other lesions in infants ≤ 100 days and to determine association of MRI features with hepatic lesions. Methods MRI performed for liver lesions were retrospectively reviewed to note imaging characteristics and the MRI diagnosis. Final diagnosis was assigned based on pathology in available cases and by corroborative standard of reference including overall clinical features, lab findings, and follow-up. Results Of 30 infants (18 boys, 12 girls; average age 42.2 days) included, 18 had solitary and 12 had multifocal lesions. Diagnoses in total 33 lesions included hemangiomas (23), hepatoblastoma (6), arteriovenous malformation (2), neuroblastoma metastases (1), and infarction (1). MRI and final diagnosis matched in 94% lesions with almost perfect agreement (kappa 0.86) for reader 1, and matched in 88% lesions with substantial agreement (kappa 0.71) for reader 2. Interobserver agreement for MRI diagnosis was substantial (kappa 0.62). Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of MRI in differentiating hemangioma from other lesions were 100, 90, 96, 100, and 97%, respectively. Centripetal (16/23) or flash (5/23) filling were only seen with hemangioma. There was no significant difference in alpha-fetoprotein elevation (p 0.08), average size (p 0.35), multifocality (p 0.38), and intralesional hemorrhage (p 1) between hemangioma and hepatoblastoma. Conclusion Centripetal filling on dynamic imaging and absence of washout are characteristic MRI features of hepatic hemangioma that can help to differentiate it from other lesions in early infancy. [ABSTRACT FROM AUTHOR]

Purpose of the Article Cerebral proliferative angiopathy (CPA) is a rare and recently characterized vascular malformation that is often mistaken for a large, diffuse arteriovenous malformation (AVM). However, distinguishing the two entities is critical, as while the diseases may appear similar on imaging, they are completely different entities. The most distinguishing features of CPA compared to AVM are the presence of normal functioning brain within the 'nidus' of the abnormality and the proliferative nature of the nidus. While the management of AVM is considered well understood, the management of CPA is unclear. Typical treatment may include conservative management, targeted embolization, and/or surgical revascularization. Materials and Methods Here, we present a patient who was initially diagnosed with a large, diffuse AVM in the posterior fossa. Initially managed conservatively, the development of progressive, debilitating neurologic symptoms prompted treatment. We pursued staged endovascular intervention and improved her initial outlook. Thereafter, volume-staged stereotactic radiosurgery (VS-SRS) was pursued to attempt to achieve a definitive treatment. Results and Conclusions Ultimately, while the treatment proved successful clinically and radiographically, the post-treatment course was exceptionally challenging. In retrospect, it is clear the working diagnosis was incorrect, and CPA was the true diagnosis. To our knowledge, this is the first known application of this treatment approach for CPA. However, the post-treatment course and final clinical outcome likely reflect the important differences between AVM and CPA. For these reasons, we are cautious to recommend the treatment course as prescribed in this case but hope to highlight important lessons learned in managing this rare condition. [ABSTRACT FROM AUTHOR]

Purpose: Patients with arteriovenous malformations (AVMs) have a lower health-related quality of life (QoL) than the general population. QoL assessment of patients with peripheral AVMs after endovascular treatment is scarce in the literature. Radiologic and clinical outcomes are not always correlated in vascular malformation treatment. This study aimed to investigate the relationship between clinical outcomes, QoL, and angiographic outcomes. Materials and Methods: Patients with peripheral AVM that underwent endovascular treatment between January 2009 and December 2021 in a single center were retrospectively evaluated. Patients' characteristics (age, sex), AVM characteristics (Schobinger classification, location, angiographic architecture), previous treatment, treatment characteristics (type of endovascular approach, embolizing agent and number of sessions), percentages of angiographic response, complications, and recurrence were evaluated. The angiographic architecture was evaluated according to the Yakes classification. The questionnaire was applied for evaluation of clinical response and QoL. Patients older than 12 years and those who can be contacted were included in clinical and QoL analysis. Clinical response was defined as improvement in the patient's most important pretreatment symptom. Treatment response was defined as clinical response plus >50% angiographic response. Results: Eighty-six patients (41 males [47.7%], 45 females [52.3%]) were included in angiographic analysis. The mean age was 28.44±12.99 years (range=5–61). Forty-three patients (50%) had previous treatment. The median number of sessions was 2 (range 1–15, InterQuartile Range [IOR]=2). Sixty-one patients (30 males [49.2%], 31 females [50.8%]) were included in clinical analysis. The clinical response rate was 73.8%, 95% confidence interval (CI) [0.60, 0.84]. The treatment response rate was 45.9%, 95% CI [0.33, 0.59]. The complication rate was 8.2%. Before treatment, 48 patients (78.7%) reported a negative impact on their QoL. Thirty-three of 48 patients (68.8%) reported improvement on their QoL after treatment. Higher Schobinger stages were related to a negative impact on QoL before treatment (p<0.01). Yakes types were not related to QoL (p=0.065). Clinical response was related to improvement on QoL after treatment (p<0.01). Angiographic and treatment responses were not related to improved QoL after treatment (p=0.52 and p=0.055, respectively). Conclusion: Angiographic architecture and outcomes were not always reflected in QoL after endovascular treatment. Clinical Impact: This study's findings will help clinicians with what to focus on in AVM treatment and how to monitor patients with peripheral AVM after endovascular treatment. Rather than relying too much on the angiographic response, patients should be checked for symptoms and quality of life improvement. No clear data in the literature regarding the applicability of the Yakes Classification in patients with previous treatment. This study questioned the applicability of the Yakes Classification in patients with previous treatments. In this study, type 4 AVMs were more common in patients with previous treatment. [ABSTRACT FROM AUTHOR]

Objectives: To summarize the clinical characteristics and investigate the efficacy of ethanol embolotherapy in the treatment of chest well arteriovenous malformation (AVM). Treatment-associated complications were also explored. Materials and Methods: Between March 2017 and August 2021, 32 consecutive patients (mean age, 23.7 years; age range, 5–54 years) who underwent ethanol embolotherapy for chest well AVMs under general anesthesia were included in this study. Embolization was performed through a direct puncture, transarterial catheterization, or a combination of the 2 procedures. The mean follow-up duration after the last treatment was 18.0 months (range, 3–42 months). The degree of devascularization on follow-up (assessed using angiography or computed tomography), and the clinical signs and symptoms of AVMs were evaluated as the therapeutic outcomes. The major and minor complications associated with the procedures were recorded. Results: A total of 103 embolization procedures (mean, 3.2; range, 2–7) comprising 101 ethanol embolization and 2 coil embolizations were performed on 32 patients with chest wall AVMs. The AVM nidus was accessed through the transarterial approach alone in 4 patients, by direct puncture in 11, and a combined procedure in 17 patients. Overall, more than 80% of the procedures were performed using the combined approach. Complete AVM devascularization was achieved in 12 (37.5%) patients. Moreover, 76% to 99% AVM was achieved in 18 patients (56.3%), and 50% to 75% in 2 patients (6.3%). Bleeding, pain, heart failure, and cosmetic deformities were the indications for treatment. For 3 patients (3/32, 9.4%) who had bleeding, the treatment stopped the hemorrhage. Complete pain relief was reported in 8 patients (8/32, 25.0%), whereas complete relief from congestive heart failure post-embolization was observed in 5 of the 6 patients with congestive heart failure (5/6, 83.3%). Complete correction of cosmesis deformities after embolization was achieved in 10 patients (10/32, 31.3%). Two patients who underwent surgery to correct persistent deformity after embolization only showed insignificant improvement. In addition, 6 (18.8%) patients developed 13 complications including blister, necrosis, hemothorax, transient hemoglobinuria, and transient pulmonary artery hypertension. Conclusions: Ethanol embolotherapy is a safe and effective procedure for chest well AVMs. Surgery is required for some patients with residual cosmesis deformity. Clinical Impact: Currently, there is no standard treatment for chest well AVMs due to their rarity and high heterogeneity. The present study shows that thanol embolotherapy is a safe and clinically effective treatment procedure for the chest well AVMs. Transarterial embolization in combination with direct puncture embolization can reach the AVM nidus. Ethanol embolotherapy can achieve complete obliteration of the AVM nidus in the majority of patients. Surgery may still be needed to correct cosmetic deformity after embolization. The present study provides valuable evidence to inform clinical decision-making. [ABSTRACT FROM AUTHOR]

Arteriovenous malformation (AVM) of the scalp is a rare extracranial vascular disorder lesion, that arises due to a pathological fistulous connection between the feeding artery and the draining vein, without capillary involvement within the subcutaneous layer. Here, we report a case of a 68-year-old woman who experienced progressively enlarging and throbbing lumps on the scalp in the bilateral frontotemporoparietooccipital region, especially the left, accompanied by a mild headache and minor hair loss. The patient was diagnosed with giant AVM of the scalp after undergoing ultrasonography (USG) and Computed tomography angiography (CTA) examinations. Computed tomography angiography is essential to precisely determine the angiographic architecture of the AVM and to determine further management.

Abstract Background Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for organ vascular malformations including arteriovenous malformations (AVMs) in the brain and lungs. North American HHT Centers of Excellence (CoEs) routinely screen for brain and lung AVMs, with the primary goal of detecting AVMs which can be treated before complications arise. Current international HHT guidelines provide recommendations for initial screening for brain and lung AVMs among children and adults with the disease, but rescreening recommendations are not comprehensively addressed and have not been reported. We determined current rescreening practices for brain and lung AVMs for children and adults with HHT among North American HHT CoEs. Methods We surveyed North American HHT CoEs regarding rescreening practices for new brain and lung AVMs in children and adults with initial negative screening. Results All thirty CoEs responded; 28 regarding pediatric (93.3%) and 30 (100%) regarding adult HHT care. The median duration of practice experience in HHT was 11.5 (range 3–30) years for providers of pediatric HHT care and 11.5 (range 3–35) years for providers of adult HHT care. The median number of patients followed at each CoE was 60 for children (range 8–500) and 375 for adults (range 30–1500). 25/28 CoEs (89.3%) reported rescreening children for brain AVMs, most commonly with enhanced MRI (21/25, 84%). 25 CoEs rescreen children for lung AVMs, most commonly every 5 years (15/25). Only 4/30 CoEs (13.3%) rescreen adults for brain AVMs. 26/30 CoEs (86.7%) reported rescreening adults for lung AVMs, most commonly every 5 years (18/26, 69.2%). Conclusions Most HHT CoEs routinely rescreen children for brain and lung AVMs and adults for lung AVMs when initial screening is negative, but adults are infrequently rescreened for brain AVMs. Long-term data regarding risk for new brain and lung AVMs are required to establish practice guidelines for rescreening.

Introduction Pelvic arteriovenous malformation is often a source of intraoperative bleeding. Here, we report our experience with a case of ureteral cancer with pelvic arteriovenous malformation treated using laparoscopic nephroureterectomy with temporary intraoperative occlusion of the internal iliac artery. Case presentation A 75‐year‐old man presented to our hospital with asymptomatic macro‐hematuria. Contrast‐enhanced computed tomography revealed right ureteral tumor with no apparent metastases, and right pelvic arteriovenous malformation. Three months later, multiple bladder cancers were identified and the patient underwent trans‐urethral resection of bladder tumor. The pathological diagnosis was urothelial carcinoma, pTa. We performed right laparoscopic nephroureterectomy with temporary intraoperative occlusion of the internal iliac artery. There was little intraoperative bleeding, and the surgery was safely completed. The pathological diagnosis was urothelial carcinoma, pT2 + Tis. Conclusion A patient showing ureteral cancer with pelvic arteriovenous malformation was safely treated using laparoscopic nephroureterectomy with temporary occlusion of the internal iliac artery.

Pulmonary arteriovenous malformations are rare, abnormal, low-resistance vascular structures that connect a pulmonary artery to a vein. They are common in patients with hereditary hemorrhagic telangiectasia; however, acquired malformations can occur in patients with underlying diseases such as chest trauma, hepatic cirrhosis, and mitral stenosis. Pulmonary arteriovenous malformations bypass the normal pulmonary capillary bed and result in intrapulmonary right-to-left shunts, which may cause central nervous system complications such as brain abscesses or ischemic stroke. Brain abscesses related to pulmonary arteriovenous malformations are not uncommon; however, reports of their occurrence during chemotherapy are limited. Here, we report the case of a 68-year-old woman with bilateral pulmonary arteriovenous malformations and appendiceal adenocarcinoma who developed a bacterial brain abscess during chemotherapy. The infection was treated using abscess drainage and antibiotic therapy. After the brain abscess healed, catheter embolization was performed on the pulmonary arteriovenous malformations and chemotherapy was resumed. The present case suggests that if a patient with a malignancy has a pulmonary arteriovenous malformation, clinicians should pay special attention to complications such as brain abscesses during chemotherapy. For patients who do not urgently need chemotherapy, embolization of the pulmonary arteriovenous malformation before chemotherapy may be a better treatment option.

A 63-year-old woman presented with a giant arteriovenous malformation (AVM) of the lower limbs associated with Parkes Weber syndrome (PWS). The AVM was supplied by 4 branches of the right profunda femoris artery and 4-stage embolization was performed. At 67 years of age, she developed a pseudoaneurysm due to the recanalization of a coiled profunda femoris artery branch arterial aneurysm. We performed re-embolization of the coiled profunda femoris artery and observed its shrinkage, but 2 months later, the pseudoaneurysm began to expand again, having a fatal course. This case indicates that battles against giant AVM-associated PWS follow a long and convoluted path. We present this case with reviewing 15 previously reported cases to improve our management of PWS.

Wyburn-Mason disease (WMD) is a rare congenital phakomatosis known for its complex arteriovenous malformations (AVMs) predominantly affecting the brain and ocular structures. We present the case of a 19-year-old female with an unruptured Spetzler-Martin grade 5 left thalamic AVM, who initially exhibited progressive visual impairment and migraines. Following diagnosis, she was treated with trametinib, a MEK inhibitor; however, nine months later, she developed acute complications, including left monocular blindness and right hemisensory loss. Imaging revealed narrowing of the left internal carotid artery and ischemia, leading to the discontinuation of trametinib. Her condition stabilized with gabapentin and supportive therapies. This case emphasizes the potential therapeutic role and risks of MEK inhibitors in managing high-grade AVMs in WMD and highlights the need for individualized management and careful monitoring in such cases.

Arteriovenous malformation (AVM) of the head and neck, though rare, can present significant clinical challenges, particularly during dental procedures. This case report details the acute management of a 7-year-old girl with an AVM in the right mandible, with sudden, severe, torrential intraoral hemorrhage during an angioembolization procedure, necessitating immediate airway management and hemodynamic stabilization in a nonoperating room anesthesia (NORA) setting. Persistent bleeding led to a multidisciplinary intervention, including external carotid artery ligation and right hemimandibulectomy, achieving hemostasis. The case underscores the importance of meticulous planning, readiness with resuscitation and airway management equipment, and coordinated efforts among anesthesia and surgical teams in NORA settings to manage such critical situations effectively.

Arteriovenous malformations (AVMs) are abnormal high flow shunts between arteries and veins with major negative impact on the cardiovascular system. Inherited loss-of-function (LOF) mutations in endoglin, encoding an endothelial cell (EC) expressed co-receptor for BMP9/10, causes the disease HHT1/Osler-Weber-Rendu, characterized by bleeding and AVMs. Here we observe increased activity of the downstream signalling complex mTORC1 within the retinal vasculature of HHT mouse models. To investigate its importance in AVM biology, concerning subvascular action, cell specificity, signalling strength and kinetics we combine timed genetic and antibody-based models of HHT with genetic mTORC1 inhibition or activation through EC specific deletion of Rptor or Tsc1. Results demonstrate that EC mTORC1 activation is secondary to endoglin LOF and mainly a consequence of systemic effects following AVM. While genetic EC inhibition of mTORC1 only showed tendencies towards reduced AVM severity, EC overactivation counterintuitively reduced it, implying that mTORC1 must be within a certain range to facilitate AVM. Complete inhibition of mTORC1 signalling by rapamycin provided the strongest therapeutic effect, pointing to potential involvement of RAPTOR-independent pathways or AVM-promoting effects of non-ECs in this pathology. [ABSTRACT FROM AUTHOR]

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in solid organs. The Curaçao criteria and/or detection of ALK1, ENG, and SMAD4 gene mutations are used for diagnosis. Juvenile Polyposis Syndrome (JPS) is diagnosed according to the number and localization of juvenile polyps, and family history of JPS. Both entities have a low prevalence. Mutation of SMAD4 leads to a combined syndrome of these two conditions called HHT-JPS Overlap Syndrome. We aim to describe the clinical characteristics associated with this condition focusing on long term follow up and review of the literature. A cross-sectional descriptive study of HHT-JPS cases from an HHT Institutional Registry was designed. Patients were eligible for this case series if they fulfilled both HHT and JPS diagnostic criteria and/or mutation on SMAD4. A comprehensive review was conducted on the clinical phenotype associated with HHT and its gastrointestinal involvement. Fourteen patients from eleven families in 788 previously HHT-diagnosed patients met the inclusion criteria. The ages ranged between 25 and 70 years old and 12 were females. In addition to the typical signs/symptoms of HHT, two distinct phenotypes were observed. Nine patients predominantly exhibited initially upper, while five showed predominantly initially lower gastrointestinal involvement. Numerous musculoskeletal and cardiovascular anomalies were also identified. The observed phenotypic diversity, particularly in gastrointestinal involvement, underscores the need for tailored clinical approaches. Comprehensive assessments identified associated musculoskeletal and cardiovascular anomalies, emphasizing the systemic nature of HHT-JPS. [ABSTRACT FROM AUTHOR]

Gross hematuria is one of the most common complications in postrenal transplant patients, accounting for 12% of all renal recipients. The management plan in these cases varies depending on different entities, including infection, renal cell carcinoma, chronic graft rejection, kidney calculus, or recurrence of primary disease. On the other hand, vascular malformation like arteriovenous malformation was less likely to be mentioned due to a lack of consensus in the natural history, pathogenesis, and current management. In this article, we report a 62-year-old man presenting with spontaneous hematuria for a week and 2 days of anuria after 3 years of renal transplantation. Abdominal ultrasound and abdominopelvic computed tomography noted an obstruction of the renal pelvis due to blood clots without signs of vascular injuries. An emergency operation was performed to remove blood clots in the renal pelvis, but after that, hematuria was still recurrence. A digital renal graft subtraction angiography (DSA) revealed an arteriovenous malformation (AVM)in the kidney allograft. This lesion was then successfully selective embolized with glue. Given the high accuracy of DSA, our case highlights the potential role of this imaging modality in diagnosing and treating AVM after failure with other modalities.