Arteriovenous malformation

BACKGROUND: Intracranial dural arteriovenous (AV) fistula classifications focus on presence/absence of retrograde flow in the cortical veins of the brain as this angiographic finding portends a worse prognosis. However, prior categorization systems of AV shunts in the spine do not incorporate these features. We propose an updated classification for spinal shunting lesions that terms any shunting lesion with retrograde flow in any cortical vein of the brain or spinal cord medullary vein as "high risk"...

Cerebrovascular surgery has many intraoperative imaging modalities available. Modern technologies include intraoperative digital subtraction angiogram, indocyanine green (ICG) angiography, relative fluorescent measurement with ICG, and ultrasound. Each of these can be used effectively in the treatment of open aneurysm and arteriovenous malformation surgeries, in addition to arteriovenous fistula surgery, and cerebral bypass surgery.

RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway...

INTRODUCTION: Dural arteriovenous fistula (DAVF) is an uncommon malformation involving an abnormal connection between dural arteries, or the pachymeningeal branches of cerebral arteries, and dural veins. Its exact pathogenesis remains elusive. Known potential triggers for DAVF include cerebral venous sinus thrombosis (CVST), trauma, ear infections, and cranial surgeries. Due to its rarity and diverse clinical presentations, diagnosing DAVF can be a challenge. CASE DESCRIPTION: We present a case of DAVF associated with CVST, manifesting as rapidly advancing parkinsonism accompanied by dementia over a month...

The authors present the clinical case of a 59-year-old female patient with a history of peripheral desaturation, which was detected in the perioperative period 4 years earlier. She reported exertional dyspnea, quantified as grade 2 on the Modified Medical Research Council (mMRC) Dyspnea Scale (walks slower than people of the same age because of dyspnea or has to stop for breath when walking at her own pace), and morning cough with mucoid sputum and denied platypnea, epistaxis, telangiectasias and hemoptysis...

Hereditary hemorrhagic telangiectasia (HHT) is the second-most-common inherited bleeding disorder worldwide and remains without approved therapies. HHT causes serious mucosal bleeding resulting in severe iron deficiency anemia, major psychosocial complications, and visceral arteriovenous malformations in brain, lung, and liver that can cause life-threatening hemorrhagic complications. No study has examined the relative morbidity of HHT and von Willebrand disease (VWD), the most common inherited bleeding disorders in women...

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BACKGROUND AND PURPOSE: The prognosis of untreated spinal arteriovenous malformations (SAVMs) is poor. Embolization plays an important role in the management of intramedullary SAVMs. Delayed aggravation due to spinal venous thrombosis following successful embolization has been reported; however, perioperative management strategies to prevent thrombosis have not been explored. We present our single-center experience of SAVM embolization and perioperative management, including anticoagulation...

BACKGROUND: Endovascular treatment devices require compatible guide catheters to navigate complex vessels and anatomy. The Fubuki XF Long Sheath guide catheter (Fubuki XF) was developed with a 0.090-inch internal diameter with hydrophilic coating, an atraumatic rounded tip, and enhanced trackability and support with gradual shaft transition zones. METHODS: We retrospectively analyzed a prospectively maintained database of neuroendovascular patients treated using Fubuki XF at our center (July 2022─May 2023)...

INTRODUCTION: Uterine arteriovenous malformations (AVMs) are a rare cause of obstetrical hemorrhage. It can be congenital due to a defect during embryogenesis or acquired. Uterine AVMs can cause life threatening postpartum hemorrhage, and is most frequently misdiagnosed. This case highlights the diagnostic challenges posed by uterine arteriovenous malformation, a rare vascular anomaly that poses significant challenges in diagnosis and management. CASE PRESENTATION: This case report details the clinical presentation, diagnostic challenges, and treatment approach for a 39-year-old woman...

SummaryHereditary haemorrhagic telangiectasia (HHT) has an estimated prevalence of 1 in 5000-8000 individuals globally with pulmonary arteriovenous malformations (PAVMs) affecting approximately 15%-50% of HHT patients. Ischaemic stroke is a known complication of PAVMs that affects ≤30% of patients with PAVMs. Studies have shown that patients with PAVMs have ischaemic stroke a decade earlier than routine stroke. The predominant mechanism of ischaemic stroke in HHT patients is paradoxical embolism due to PAVMs, but most HHT-related PAVMs are asymptomatic...

BACKGROUND: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by SMAD4 pathogenic variants, with overlapping symptoms for both disorders in some patients. Additional connective tissue disorders have also been reported. Here, we describe carriers of SMAD4 variants followed in an HHT reference centre to further delineate the phenotype. METHODS: Observational study based on data collected from the Clinical Investigation for the Rendu-Osler Cohort database...

Vascular anomalies represent a diverse group of disorders of abnormal vascular development or proliferation. Vascular anomalies are classified as vascular tumors and vascular malformations. Significant advances have been made in the understanding of the pathogenesis, natural history, and genetics of vascular anomalies, allowing for improvements in management including targeted molecular therapies. Infantile hemangiomas are the most common vascular tumor of childhood and follow a distinct natural history of proliferation and involution...

Nontraumatic intracerebral hemorrhage is an important health issue. Although common causes such as hypertension and cerebral amyloid angiopathy predominantly affect the elderly, there exists a spectrum of uncommon etiologies that contribute to the overall incidence of intracerebral hemorrhage. The identification of these rare causes is essential for targeted clinical management, informed prognostication, and strategic secondary prevention where relevant. This topical review explores the uncommon intracerebral hemorrhage causes and provides practical clues for their clinical and imaging identification...

Cell segregation allows the compartmentalization of cells with similar fates during morphogenesis, which can be enhanced by cell fate plasticity in response to local molecular and biomechanical cues. Endothelial tip cells in the growing retina, which lead vessel sprouts, give rise to arterial endothelial cells and thereby mediate arterial growth. Here, we have combined cell type-specific and inducible mouse genetics, flow experiments in vitro, single-cell RNA sequencing and biochemistry to show that the balance between ephrin-B2 and its receptor EphB4 is critical for arterial specification, cell sorting and arteriovenous patterning...

BACKGROUND: Spinal epidural arteriovenous fistulas (SEDAVFs) are rarely diagnosed vascular malformations that can cause spinal cord compression and congestive myelopathy. METHODS: This is a single-center, retrospective case series of patients with SEDAVFs who underwent observation or treatment at UCLA medical center between 1993 and 2023. RESULTS: Between 1993 and 2023 a total of 26 patients at UCLA were found to have a SEDAVF. The median age at treatment was 59 years (range 4 months to 91 years)...

BACKGROUND: The Fontan operation is a palliative technique for patients born with single ventricle heart disease. The superior vena cava (SVC), inferior vena cava (IVC), and hepatic veins are connected to the pulmonary arteries in a total cavopulmonary connection by an extracardiac conduit or a lateral tunnel connection. A balanced hepatic flow distribution (HFD) to both lungs is essential to prevent pulmonary arteriovenous malformations and cyanosis. HFD is highly dependent on the local hemodynamics...

PURPOSE: To investigate the safety and efficacy of microballoon-occluded transcatheter embolization using n-butyl-2-cyanoacrylate (NBCA) in patients with a single pulmonary arteriovenous malformation (PAVM). METHODS: From November 2017 to November 2020, this retrospective study included 38 previously untreated patients with a single PAVM who underwent microballoon-occluded transcatheter embolization using NBCA. All 38 patients had follow-up that included simple chest radiography and contrast-enhanced chest computed tomography (CT)...

BACKGROUND: Vascular malformations belong to the group of vascular anomalies. They are rare congenital diseases resulting from abnormal development of vessels and can arise in any location, often in the head and neck region. Clinical symptoms are variable, functional handicaps and esthetic problems may result. MATERIALS AND METHODS: One differentiates between arteriovenous, lymphatic, venous, and capillary malformations and combinations thereof. Their classification, symptoms, diagnostics, and treatment options are discussed...

Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing...