Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (720 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the capillaries. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Arteriovenous Malformation; Malformation, Arteriovenous; Malformations, Arteriovenous.
Where it fits in the MeSH classification
- Broader topics
- Vascular Malformations; Vascular Diseases
- Narrower topics
- Arteriovenous Fistula; Intracranial Arteriovenous Malformations
- See also
- Angiomatosis; Arteriovenous Fistula; Hemangioma
Related concepts
- Capillaries
Research landscape
PubMed indexes 33,986 records tagged with the MeSH heading “Arteriovenous Malformations” (counts retrieved 2026-10-29). 4,267 of them (12.6%) were published from 2020 onward, and the busiest period so far is through 1999 with 16,730 records.
Reviews account for 3,539 records (10.4%) and meta-analyses for 167. Randomized controlled trials number 126 (0.4%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 16,730 |
| 2000-2009 | 5,944 |
| 2010-2019 | 7,045 |
| 2020 onward | 4,267 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 3,539 | 10.4% |
| Meta-analyses | 167 | 0.5% |
| Randomized controlled trials | 126 | 0.4% |
Method: PubMed query "Arteriovenous Malformations"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances | 2024 | Review article Design not recorded in structured metadata | 65 | cc by PMID 38357927 · DOI · PMC10866657 |
| Risk factors for arteriovenous fistula dysfunction in hemodialysis patients: a retrospective study | 2023 | Research article Design not recorded in structured metadata | 27 | cc by PMID 38044365 · DOI · PMC10694134 |
| Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations | 2023 | Research article Design not recorded in structured metadata | 22 | cc by PMID 37978175 · DOI · PMC10656524 |
| Endothelial oncogenic KRAS mutation drives the dynamics of microglia and macrophages in brain arteriovenous malformation | 2026 | Research article Design not recorded in structured metadata | 2 | cc by PMID 41642659 · DOI · PMC13043085 |
Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Hereditary hemorrhagic telangiectsia (HHT) is an inherited vascular disorder with highly variable expressivity, affecting up to 1 in 5,000 individuals.
- Closing excerpt
- However, despite the substantial benefits of these new treatments in terms of alleviating symptom severity, this not-so-uncommon bleeding disorder still currently lacks any FDA- or European Medicines Agency-approved (EMA-approved) therapies.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (116 words)
Hereditary hemorrhagic telangiectsia (HHT) is an inherited vascular disorder with highly variable expressivity, affecting up to 1 in 5,000 individuals. This disease is characterized by small arteriovenous malformations (AVMs) in mucocutaneous areas (telangiectases) and larger visceral AVMs in the lungs, liver, and brain. HHT is caused by loss-of-function mutations in the BMP9-10/ENG/ALK1/SMAD4 signaling pathway. This Review presents up-to-date insights on this mutated signaling pathway and its crosstalk with proangiogenic pathways, in particular the VEGF pathway, that has allowed the repurposing of new drugs for HHT treatment. However, despite the substantial benefits of these new treatments in terms of alleviating symptom severity, this not-so-uncommon bleeding disorder still currently lacks any FDA- or European Medicines Agency-approved (EMA-approved) therapies.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 38357927 · DOI · PMC10866657
Risk factors for arteriovenous fistula dysfunction in hemodialysis patients: a retrospective study [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Arteriovenous fistula (AVF) is the first choice of vascular access in hemodialysis (HD) patients.
- Closing excerpt
- Positive intervention strategies targeting these potential factors, such as weight loss or oral phosphate binders could improve the long-term success of AVF.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (233 words)
Arteriovenous fistula (AVF) is the first choice of vascular access in hemodialysis (HD) patients. However, the correlations between patient factors and the arteriovenous fistula patency remain unclear. Therefore, our study investigates the risk factors associated with AVF dysfunction in HD patients. A total of 233 end-stage renal disease (ESDR) patients who met the study inclusion criteria in the Nephrology Department of Hunan Provincial People's Hospital between December 2020 and June 2022 were included in this study. The baseline demographic, clinical and laboratory parameters were collected at the time of AVF creation and analyzed. Of the 233 ESRD patients, 146 (62.7%) were male and the mean age was 56.11 ± 12.14 (21-82) years. The patients were followed for a median time of 14 months. Kaplan-Meier analysis showed a 6-, 12- and 24-month post-placement survival of 87.1%, 82.8% and 80.7%, respectively. Univariate Cox regression analysis revealed weight (HR, 1.03; P = 0.03) as a predictor for the loss of vascular access functionality. In addition, multivariate Cox regression analysis further demonstrated that sex (HR, 3.41; P = 0.03), weight (HR 1.08; P < 0.01) and phosphorus level (HR: 3.03; P = 0.01) are independent risk factors for AVF dysfunction. AVF dysfunction is highly associated with several risk factors including weight, phosphorus level, and sex. Positive intervention strategies targeting these potential factors, such as weight loss or oral phosphate binders could improve the long-term success of AVF.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 38044365 · DOI · PMC10694134
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations [3]
Abstract reading summary — source excerpts
- Opening excerpt
- To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes.
- Closing excerpt
- These results illuminate human arterio-venous development and VOGM pathobiology and have implications for patients and their families.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (168 words)
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP (RASA1) harbored a genome-wide significant burden of loss-of-function de novo variants (2042.5-fold, p = 4.79 x 10-7). Rare, damaging transmitted variants were enriched in Ephrin receptor-B4 (EPHB4) (17.5-fold, p = 1.22 x 10-5), which cooperates with p120 RasGAP to regulate vascular development. Additional probands had damaging variants in ACVRL1, NOTCH1, ITGB1, and PTPN11. ACVRL1 variants were also identified in a multi-generational VOGM pedigree. Integrative genomic analysis defined developing endothelial cells as a likely spatio-temporal locus of VOGM pathophysiology. Mice expressing a VOGM-specific EPHB4 kinase-domain missense variant (Phe867Leu) exhibited disrupted developmental angiogenesis and impaired hierarchical development of arterial-capillary-venous networks, but only in the presence of a "second-hit" allele. These results illuminate human arterio-venous development and VOGM pathobiology and have implications for patients and their families.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 37978175 · DOI · PMC10656524
Endothelial oncogenic KRAS mutation drives the dynamics of microglia and macrophages in brain arteriovenous malformation [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Mutation of KRAS in endothelial cells (KRAS-ECs) leads to intracerebral hemorrhage (ICH) in brain arteriovenous malformation (bAVM), resulting in severe disabilities or even death.
- Closing excerpt
- Thus, modulation of MG/Mϕ may reduce ICH risk in patients with bAVM.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (203 words)
Mutation of KRAS in endothelial cells (KRAS-ECs) leads to intracerebral hemorrhage (ICH) in brain arteriovenous malformation (bAVM), resulting in severe disabilities or even death. However, it is unclear what causes this hemorrhagic conversion of bAVMs. Here, using a locally established, clinically relevant sporadic bAVM mouse model, created by overexpressing mutant KRAS (KRASG12V) in brain ECs, we demonstrate that KRAS-ECs act as trigger for activation of microglia (MG) and infiltration of macrophages (Mϕ). Using a 3-dimensional immunostaining approach with cleared human and mouse bAVM tissues, we demonstrate an abundance of MG/Mϕ around the bAVM nidus. The presence of MG/Mϕ was correlated to the blood-brain barrier leakage in bAVM areas. Time-lapsed intravital imaging in Cx3cr1-gfp;Ccr2-rfp reporter mice demonstrated the dynamic activation of MG and infiltration of Mϕ toward mutant KRASG12V-modified dysplastic vessels. Importantly, a time-course analysis showed that these activated MG and infiltrated Mϕ are present around the bAVMs prior to hemorrhagic conversion, and controlled depletion of MG/Mϕ reduced ICH incidence in bAVMs. Inhibition of MG/Mϕ with long-term minocycline treatment attenuated the incidence of ICHs around bAVMs. Our study indicates that MG/Mϕ are involved in destabilization of KRASG12V-induced bAVM, leading to hemorrhagic conversion/ICH. Thus, modulation of MG/Mϕ may reduce ICH risk in patients with bAVM.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41642659 · DOI · PMC13043085
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Treatment of brain arteriovenous malformations: a systematic review and meta-analysis [5]
- Research article Natural history of cerebral arteriovenous malformations: a meta-analysis [6]
- Research article Untreated brain arteriovenous malformation: patient-level meta-analysis of hemorrhage predictors [7]
- Research article Uterine arteriovenous malformations induced after diagnostic curettage: a systematic review [8]
- Research article Treatment for intracranial dural arteriovenous malformations: a meta-analysis from the English language literature [9]
- Research article Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis [10]
References
- Al Tabosh T, Al Tarrass M, Tourvieilhe L, Guilhem A, Dupuis-Girod S, Bailly S. Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances. . 2024. PMID 38357927 · DOI · PMC10866657
- Zhang F, Li J, Yu J, Jiang Y, Xiao H, Yang Y, et al.. Risk factors for arteriovenous fistula dysfunction in hemodialysis patients: a retrospective study. . 2023. PMID 38044365 · DOI · PMC10694134
- Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, et al.. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. . 2023. PMID 37978175 · DOI · PMC10656524
- Park H, Park JE, Freeman BH, Yang BSK, Ting SM, Suh AK, et al.. Endothelial oncogenic KRAS mutation drives the dynamics of microglia and macrophages in brain arteriovenous malformation. . 2026. PMID 41642659 · DOI · PMC13043085
- van Beijnum J, van der Worp HB, Buis DR, Al-Shahi Salman R, Kappelle LJ, Rinkel GJ, et al.. Treatment of brain arteriovenous malformations: a systematic review and meta-analysis. JAMA. 2011. PMID 22068993 · DOI
- Gross BA, Du R. Natural history of cerebral arteriovenous malformations: a meta-analysis. J Neurosurg. 2013. PMID 23198804 · DOI
- Kim H, Al-Shahi Salman R, McCulloch CE, Stapf C, Young WL, MARS Coinvestigators. Untreated brain arteriovenous malformation: patient-level meta-analysis of hemorrhage predictors. Neurology. 2014. PMID 25015366 · DOI · PMC4141996
- Peitsidis P, Manolakos E, Tsekoura V, Kreienberg R, Schwentner L. Uterine arteriovenous malformations induced after diagnostic curettage: a systematic review. Arch Gynecol Obstet. 2011. PMID 21904854 · DOI
- Lucas CP, Zabramski JM, Spetzler RF, Jacobowitz R. Treatment for intracranial dural arteriovenous malformations: a meta-analysis from the English language literature. Neurosurgery. 1997. PMID 9179884 · DOI
- Brinjikji W, Iyer VN, Wood CP, Lanzino G. Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. J Neurosurg. 2017. PMID 27767404 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.