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cerebral arteriovenous malformation (cerebral AVM, intracranial AVM)

Etiology: - Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia) Epidemiology: - most commonly produce symptoms in the 2nd & 3rd decade of life Pathology: 1) AV malformations are generally superficial in location 2) 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: 1) headaches 2) seizures 3) focal neurological deficits Radiology: 1) magnetic resonance angiography (MRA) 2) cerebral arterial angiography Management: 1) lesion can be monitored expectantly a) some risk of hemorrhage b) neurological symptoms c) initial conservative management results in lower rates of complications relative to intervention [2,3] 2) interventions a) goal is complete AVM obliteration b) subtotal therapy does not confer protection from hemorrhage c) single or combined therapy applying microsurgery, endovascular techniques, or radiosurgery (focused radiation) d) high risk of perioperative stroke &/or death (30% vs 10%) & disability at 30 months (46% vs 15%) [2]

Interactions

disease interactions

Specific

carotid-cavernous fistula

General

arteriovenous malformation (AVM)

Database Correlations

OMIM 108010

References

  1. UCLA Intensive Course in Geriatric Medicine & Board Review, Marina Del Ray, CA, Sept 12-15, 2001
  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. Salman RA-S et al. Outcome after conservative management or intervention for unruptured brain arteriovenous malformations. JAMA 2014 Apr 23; 311:1661 PMID: 24756516
  4. 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 PMID: 29298116 Free full text http://www.nejm.org/doi/full/10.1056/NEJMoa1709449
  5. NINDS Arteriovenous Malformation Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Arteriovenous-Malformation-Information-Page