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Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.
Features include very common findings: Abnormal cerebral vascular morphology, Visceral angiomatosis, and Peripheral arteriovenous fistula; and common findings: Visual impairment, Seizure, Cerebral hemorrhage, and Memory problems (memory impairment) and others. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Cerebral arteriovenous malformation, Abnormal cerebral vascular morphology, Seizure |
Eyes | 1 | Visual impairment |
KRAS encodes KRAS proto-oncogene, GTPase (189 aa). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation. Highest expression in Nerve Tibial (30.7 TPM) and Brain Cerebellar Hemisphere (25.1 TPM).
Arteriovenous malformations of the brain is associated with mutations in the KRAS gene on chromosome 12.
KRAS is classified as a druggable target (Clinically Actionable, Drug Resistance, and Enzyme categories) with score 1.0.
Genetic testing for KRAS is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for arteriovenous malformations of the brain has been reported in the published literature.
Phenotype severity distribution: 3 very common features, 6 common features.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
7 clinical trials registered, 4 recruiting. Interventions under study include other interventions and medical devices. Pipeline includes 1 NA. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT06259292](https://clinicaltrials.gov/study/NCT06259292) | Comprehensive HHT Outcomes Registry of the United States (CHORUS) | — | Cure HHT | RECRUITING |
[NCT03676868](https://clinicaltrials.gov/study/NCT03676868) | Biology of Cerebral Arteriovenous Malformations and Prognosis of Cerebral Arteriovenous Malformations | — | Fondation Ophtalmologique Adolphe de Rothschild | RECRUITING |
[NCT07103304](https://clinicaltrials.gov/study/NCT07103304) | Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations. | — | University Hospital, Rouen | NOT_YET_RECRUITING |
[NCT04927156](https://clinicaltrials.gov/study/NCT04927156) | Safety, Performance and Usability of BALT Medical Devices: The EVIDENCE Post Marketing Clinical Follow-up Platform | — | Balt Extrusion | RECRUITING |
[NCT07353736](https://clinicaltrials.gov/study/NCT07353736) | Cerebral Arteriovenous Malformation With Aneurysm: Epidemiology, Clinical Features, and Prognosis | — | Duan Chuanzhi | NOT_YET_RECRUITING |
125 publications have been identified in PubMed for arteriovenous malformations of the brain. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (12%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 44 | 35% |
Laboratory research | 28 | 22% |
Disease patterns and progression | 15 | 12% |
Clinical study results | 14 | 11% |
Research summaries | 12 | 10% |
Testing and diagnosis research | 5 |
Dong X (2026). [PMID: 41811125](https://pubmed.ncbi.nlm.nih.gov/41811125/). *CNS neuroscience & therapeutics*. [Case Report / Case Series]
Park H (2026). [PMID: 41642659](https://pubmed.ncbi.nlm.nih.gov/41642659/). *JCI insight*. [Basic Science / Preclinical]
Liu J (2026). [PMID: 41521146](https://pubmed.ncbi.nlm.nih.gov/41521146/). *The Journal of international medical research*. [Clinical Trial Publication]
Haver J (2026). [PMID: 42150201](https://pubmed.ncbi.nlm.nih.gov/42150201/). *J Neurosurg Case Lessons*. [Case Report / Case Series]
Park JE (2026). [PMID: 41696778](https://pubmed.ncbi.nlm.nih.gov/41696778/). *Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism*. [Basic Science / Preclinical]
Das S (2026). [PMID: 39513431](https://pubmed.ncbi.nlm.nih.gov/39513431/). *British journal of neurosurgery*. [Case Report / Case Series]
Nascimento VS (2026). [PMID: 42119987](https://pubmed.ncbi.nlm.nih.gov/42119987/). *Arq Neuropsiquiatr*. [Epidemiology / Natural History]
Park JI (2026). [PMID: 41582459](https://pubmed.ncbi.nlm.nih.gov/41582459/). *Journal of Korean Neurosurgical Society*. [Diagnostic / Biomarker]
Naylor RM (2026). [PMID: 41172372](https://pubmed.ncbi.nlm.nih.gov/41172372/). *Journal of neurosurgery*. [Gene Therapy / Novel Therapeutics]
Zeng Y (2026). [PMID: 42126442](https://pubmed.ncbi.nlm.nih.gov/42126442/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 4:50 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
New treatment approaches | 5 | 4% |
Other research | 2 | 2% |
AI-curated news mentioning arteriovenous malformations of the brain
Updated Aug 14, 2026
A study from the Hospital for Sick Children evaluates surgical outcomes for children undergoing resection of intracranial nidal arteriovenous malformations. The findings contribute to understanding the effectiveness of surgical interventions in this rare condition.
A recent study explores the link between liver failure and the development of multiple arteriovenous malformations, presenting a novel etiology. This research could inform future investigations into vascular anomalies associated with liver conditions.
A systematic review and meta-analysis explores the connection between cerebral arteriovenous malformations and heart diseases in children. This research provides insights that could inform future studies and clinical approaches.