cerebral arteriovenous malformation (cerebral AVM, intracranial AVM)
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Etiology
Epidemiology
- most commonly produce symptoms in the 2nd & 3rd decade of life
Pathology
- AV malformations are generally superficial in location
- no characteristic pattern for hemorrhage
Genetics
- somatic activating KRAS mutations in the majority of tissue samples of arteriovenous malformations of the brain[4]
- cerebral AVM may develop as a result of KRAS-induced activation of the MAPK-ERK signaling pathway in brain endothelial cells[4]
- KRAS-G12V in endothelial cells in vitro induce increased ERK activity, increased expression of genes related to angiogenesis & Notch signaling, & enhanced migration[4]
Clinical manifestations
Radiology
Management
- lesion can be monitored expectantly
- some risk of hemorrhage
- neurological symptoms
- initial conservative management results in lower rates of complications relative to intervention[2][3]
- interventions
- goal is complete AVM obliteration
- subtotal therapy does not confer protection from hemorrhage
- single or combined therapy applying microsurgery, endovascular techniques, or radiosurgery (focused radiation)
- high risk of perioperative stroke &/or death (30% vs 10%) & disability at 30 months (46% vs 15%)[2]
More general terms
More specific terms
References
- ↑ UCLA Intensive Course in Geriatric Medicine & Board Review, Marina Del Ray, CA, Sept 12-15, 2001
- ↑ 2.0 2.1 2.2 Mohr JP et al. Medical management with or without interventional therapy for unruptured brain arteriovenous malformations (ARUBA): A multicentre, non-blinded, randomised trial. Lancet 2013 Nov 20 http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(13)62302-8/fulltext
- ↑ 3.0 3.1 Salman RA-S et al. Outcome after conservative management or intervention for unruptured brain arteriovenous malformations. JAMA 2014 Apr 23; 311:1661 PMID: https://www.ncbi.nlm.nih.gov/pubmed/24756516
- ↑ 4.0 4.1 4.2 4.3 Nikolaev SI, Vetiska S, Bonilla X et al Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. N Engl J Med 2018; 378:250-261. January 18, 2018 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29298116 Free full text <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1709449
- ↑ NINDS Arteriovenous Malformation Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Arteriovenous-Malformation-Information-Page
Patient information
cerebral arteriovenous malformation patient information