Arteriovenous Malformation of the Head and Neck in a Hemodialysis Patient.
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ABSTRACT:
SUBMITTER: Hattori Y
PROVIDER: S-EPMC7990015 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:IntroductionThe "seagull cry" is an acoustic phenomenon heard during duplex ultrasound. It is caused by harmonic covibrations of a vessel wall in the presence of high-velocity blood flow. It has been reported in a few cases of cerebrovascular disease, such as severe intracranial stenosis, vasospasm or carotid-cavernous fistula.Material and methodsA 35-year-old man underwent transcranial color-coded sonography (TCCS) for work-up of a severe new-onset headache.ResultsDoppler spectral analysis of the right intracranial carotid bifurcation revealed multiple pairs of mirror-image parallel strings, and a high-frequency seagull cry was heard. Computed tomography-angiography and magnetic resonance imaging of the brain showed an arteriovenous malformation in the right temporal lobe.DiscussionThe seagull cry is a "musical murmur" with single or multiple frequency that sounds like a musical tone. This is the first report of this phenomenon in a cerebral arteriovenous malformation.
| S-EPMC3558096 | biostudies-literature
Project description:ObjectiveTo identify risk factors for intracranial hemorrhage in the natural history course of brain arteriovenous malformations (AVMs) using individual patient data meta-analysis of 4 existing cohorts.MethodsWe harmonized data from Kaiser Permanente of Northern California (n = 856), University of California San Francisco (n = 787), Columbia University (n = 672), and the Scottish Intracranial Vascular Malformation Study (n = 210). We censored patients at first treatment, death, last visit, or 10-year follow-up, and performed stratified Cox regression analysis of time-to-hemorrhage after evaluating hemorrhagic presentation, sex, age at diagnosis, deep venous drainage, and AVM size as predictors. Multiple imputation was performed to assess impact of missing data.ResultsA total of 141 hemorrhage events occurred during 6,074 patient-years of follow-up (annual rate of 2.3%, 95% confidence interval [CI] 2.0%-2.7%), higher for ruptured (4.8%, 3.9%-5.9%) than unruptured (1.3%, 1.0%-1.7%) AVMs at presentation. Hemorrhagic presentation (hazard ratio 3.86, 95% CI 2.42-6.14) and increasing age (1.34 per decade, 1.17-1.53) independently predicted hemorrhage and remained significant predictors in the imputed dataset. Female sex (1.49, 95% CI 0.96-2.30) and exclusively deep venous drainage (1.60, 0.95-2.68, p = 0.02 in imputed dataset) may be additional predictors. AVM size was not associated with intracerebral hemorrhage in multivariable models (p > 0.5).ConclusionThis large, individual patient data meta-analysis identified hemorrhagic presentation and increasing age as independent predictors of hemorrhage during follow-up. Additional AVM cohort data may further improve precision of estimates, identify new risk factors, and allow validation of prediction models.
| S-EPMC4141996 | biostudies-literature
Project description:Cerebral arteriovenous malformations (AVMs) are the most common vascular malformations worldwide and the leading cause of hemorrhagic strokes that result in crippling neurological deficits. Here, using newly generated mouse model, we discovered that genome-wide ocuppancy of H4K8ac and H3K27me3 decreased in mouse cerebral AVMs.
2024-05-30 | GSE245171 | GEO
Project description:Background: Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by CMs, often in association with fast-flow vascular malformations. Alagille syndrome is an autosomal dominant multisystem disorder, usually involving hepatic, cardiac, ophthalmic, skeletal, or renal dysplasia. The combination of CM-AVM and Alagille syndrome in a patient presenting serious vascular malformations in the liver and heart has never been reported. Here, we report the case of a 20-month-old infant presenting these two diseases. Case presentation: The patient manifested port-wine stains, congenital heart disease, cholestasis with abnormal morphology, and vascular anomalies. Color Doppler (B-mode) ultrasonography, and radiological imaging including computed tomography (CT) with enhanced three-dimensional (3D) reconstruction and angiography, revealed a type II Abernethy malformation in the hepatic portal vein. The left hepatic lobe was enlarged showing dilation of the portal vein and the left artery. Whole exome sequencing (WES) identified a paternally inherited RASA1 heterozygous pathogenic variant p.(Ser219Ter) causing CM-AVM and a de novo NOTCH2 heterozygous variant p.(Met2042Thr) associated with Alagille syndrome. Conclusion: This is the first case of combined CM-AVM and Alagille syndrome presenting serious liver and heart abnormalities diagnosed using imaging technology and WES. The patient harbored variants in two genes: RASA1 and NOTCH2, which rarely contribute to aberrant vascular development. This report highlights the value of accurately diagnosing similar diseases and guiding therapy using genetic testing combined with careful clinical examinations.
| S-EPMC6848451 | biostudies-literature
Project description:BACKGROUND:Pulmonary arteriovenous malformations are abnormal direct connections between the pulmonary artery and pulmonary vein which result in a right-to-left shunt. They are associated with substantial morbidity and mortality mainly from the effects of paradoxical emboli. Potential complications include stroke, cerebral abscess, pulmonary haemorrhage and hypoxaemia. Embolisation is an endovascular intervention based on the occlusion of the feeding arteries the pulmonary arteriovenous malformations thus eliminating the abnormal right-to-left-shunting. This is an update of a previously published review. OBJECTIVES:To determine the efficacy and safety of embolisation in patients with pulmonary arteriovenous malformations including a comparison with surgical resection and different embolisation devices. SEARCH METHODS:We searched the Cystic Fibrosis and Genetic Disorders Group's Trials Register; date of last search: 10 April 2017.We also searched the following databases: the Australian New Zealand Clinical Trials Registry; ClinicalTrials.gov; International Standard Randomised Controlled Trial Number Register; International Clinical Trials Registry Platform Search Portal (last searched 27 August 2017). to be updatedWe checked cross-references and searched references from review articles. SELECTION CRITERIA:Trials in which individuals with pulmonary arteriovenous malformations were randomly allocated to embolisation compared to no treatment, surgical resection or embolisation using a different embolisation device. DATA COLLECTION AND ANALYSIS:Studies identified for potential inclusion were independently assessed for eligibility by two authors, with excluded studies further checked by a third author. No trials were identified for inclusion in the review and hence no analysis was performed. MAIN RESULTS:There were no randomised controlled trials included in the review; one ongoing trial has been identified which may be eligible for inclusion in the future. AUTHORS' CONCLUSIONS:There is no evidence from randomised controlled trials for embolisation of pulmonary arteriovenous malformations. However, randomised controlled trials are not always feasible on ethical grounds. Accumulated data from observational studies suggest that embolisation is a safe procedure which reduces morbidity and mortality. A standardised approach to reporting with long-term follow-up through registry studies can help to strengthen the evidence for embolisation in the absence of randomised controlled trials.
| S-EPMC6491094 | biostudies-literature
Project description:Background and purposeDo children have an increased risk for brain arteriovenous malformation (AVM) recurrence compared with adults and does this risk vary depending on initial presentation with AVM rupture?MethodsWe retrospectively studied 115 patients initially presenting with brain AVM under age 25 years who underwent complete surgical resection of the AVM as documented by digital subtraction angiography (DSA) and had delayed follow-up DSA to evaluate for AVM recurrence after apparent initial cure.ResultsThe mean time from baseline DSA to follow-up DSA was 2.3 years, ranging from 0 to 15 years. Twelve patients (10.4% of the 115 patient cohort and 16.7% of 72 patients with hemorrhage at initial presentation) demonstrated AVM recurrence on follow-up DSA. All patients with recurrence initially presented with intracranial hemorrhage, and intracranial hemorrhage was a significant predictor of recurrence (log rank P=0.037). Among patients with initial hemorrhage, the 5-year recurrence rate was 17.8% (95% CI, 8.3%-35.7%). All recurrences occurred in patients who were children at the time of their initial presentation; the oldest was 15 years of age at the time of initial AVM surgery. The 5-year recurrence rate for children (0-18 years of age) with an initial presentation of hemorrhage was 21.4% (95% CI, 10.1%-41.9%). Using Cox regression, we found the risk of AVM recurrence decreased by 14% per each year increase in age at the time of initial surgical resection (hazard ratio=0.86 [95% CI, 0.75-0.99]; P=0.031).ConclusionsThere is a high rate of recurrence of apparently cured brain AVMs in children who initially present with AVM rupture. Imaging follow-up is warranted to prevent re-rupture.
| S-EPMC7731776 | biostudies-literature
Project description:Real-time digital subtraction angiography (DSA) is capable of revealing the cerebral vascular morphology and blood flow perfusion patterns of arterial venous malformations (AVMs). In this study, we analyze the DSA images of a subject-specific left posterior AVM case and customize a generic electric analog model for cerebral circulation accordingly. The generic model consists of electronic components representing 49 major cerebral arteries and veins, and yields their blood pressure and flow rate profiles. The model was adapted by incorporating the supplying and draining patterns of the AVM to simulate some typical AVM features such as the blood "steal" syndrome, where the flow rate in the left posterior artery increases by almost three times (∼300 ml/min vs 100 ml/min) compared with the healthy case. Meanwhile, the flow rate to the right posterior artery is reduced to ∼30 ml/min from 100 ml/min despite the presence of an autoregulation mechanism in the model. In addition, the blood pressure in the draining veins is increased from 9 to 22 mmHg, and the blood pressure in the feeding arteries is reduced from 85 to 30 mmHg due to the fistula effects of the AVM. In summary, a first DSA-based AVM model has been developed. More subject-specific AVM cases are required to apply the presented in silico model, and in vivo data are used to validate the simulation results.
| S-EPMC7390970 | biostudies-literature
Project description:Brain Arteriovenous Malformation Genetics Study
| PRJNA648440 | ENA
Project description:Brain Arteriovenous Malformation Genetics Study
| PRJNA648439 | ENA
Project description:We present a case of recurrent strokes in a patient with absent left internal carotid artery (ICA) and pulmonary arteriovenous malformation. Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between pulmonary artery and pulmonary vein, cause extracardiac right to left shunting of blood and are known to significantly increase the risk of stroke primarily due to paradoxical embolization. They are often hereditary and are commonly associated with hereditary hemorrhagic telangiectasias (HHT). Delayed bubbles seen in the left ventricle (after 3 cardiac cycles) on transthoracic echocardiogram with bubble study is often the first clue to the presence of PAVMs. CT scan of the chest can confirm the diagnosis. Percutaneous embolotherapy is the treatment of choice with reduction in stroke risk post embolization.
| S-EPMC8258794 | biostudies-literature