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Updated: May 17, 2026
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Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations
Published on: October 20, 2017
Towards precision medicine for brain arteriovenous malformations
Andrew T Hale1,2, Adam J Kundishora3, Pazhanichamy Kalailingam4
1Department of Neurosurgery, University of Alabama at Birmingham, Birmingham, Alabama, USA.
The Journal of Clinical Investigation
|May 15, 2026
Summary
Brain arteriovenous malformations (bAVMs) are dynamic, genetically driven lesions causing pediatric stroke. New research reveals molecular targets for precision medicine, potentially transforming bAVMs into treatable conditions.
Area of Science:
- Cerebrovascular biology
- Genetics
- Molecular medicine
Background:
- Brain arteriovenous malformations (bAVMs) are a primary cause of pediatric hemorrhagic stroke.
- Previously viewed as static defects, bAVMs are now understood as dynamic lesions driven by genetic mutations.
Purpose of the Study:
- To explore recent advances in understanding the genetic basis and molecular mechanisms of bAVMs.
- To lay the groundwork for precision medicine approaches in treating bAVMs.
Main Methods:
- Integration of human genetics, animal models, and endovascular innovations.
- Analysis of somatic mutations in KRAS, BRAF, and related pathways.
- Investigation of endothelial Ras/MAPK hyperactivation.
Main Results:
- bAVMs result from somatic mutations affecting arteriovenous specification, angiogenesis, and remodeling.
- Endothelial Ras/MAPK hyperactivation links to abnormal vessel growth and increased rupture risk.
- Convergent molecular mechanisms underlying bAVM development have been identified.
Conclusions:
- Precision medicine strategies combining molecular diagnostics and mutation-specific therapies are emerging.
- CRISPR-based gene editing offers future treatment possibilities.
- Genotype-guided interventions could reclassify bAVMs as treatable molecular conditions rather than incurable malformations.
