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: 3 complete abstracts (528 words), 9 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
A spectrum of congenital, inherited, or acquired abnormalities in blood vessels that can adversely affect the normal blood flow in arteries or veins. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the capillaries (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases.
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: Malformations, Vascular; Malformation, Vascular; Vascular Malformation.
Where it fits in the MeSH classification
- Broader topics
- Cardiovascular Abnormalities
- Narrower topics
- Arteriovenous Malformations; Central Nervous System Vascular Malformations; Congenital Portosystemic Shunt; May-Thurner Syndrome; Median Arcuate Ligament Syndrome; Persistent Left Superior Vena Cava; Pulmonary Atresia; Scimitar Syndrome; Single Umbilical Artery; Vascular Fistula; Vascular Ring; Arterio-Arterial Fistula; Telangiectasia, Hereditary Hemorrhagic
Related concepts
- Blood Vessels
- Arteries
- Veins
- Capillaries
Research landscape
PubMed indexes 55,698 records tagged with the MeSH heading “Vascular Malformations” (counts retrieved 2026-10-29). 10,144 of them (18.2%) were published from 2020 onward, and the busiest period so far is through 1999 with 18,987 records.
Reviews account for 6,218 records (11.2%) and meta-analyses for 289. Randomized controlled trials number 186 (0.3%) 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 | 18,987 |
| 2000-2009 | 10,336 |
| 2010-2019 | 16,231 |
| 2020 onward | 10,144 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 6,218 | 11.2% |
| Meta-analyses | 289 | 0.5% |
| Randomized controlled trials | 186 | 0.3% |
Method: PubMed query "Vascular 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 |
|---|---|---|---|---|
| PI3K/AKT/mTOR axis in vascular malformations: from molecular insights to targeted clinical trials | 2025 | Review article Design not recorded in structured metadata | 9 | cc by PMID 41430313 · DOI · PMC12723890 |
| Vascular malformations: from genetics to therapeutics | 2026 | Review article Design not recorded in structured metadata | 7 | cc by PMID 41272322 · DOI · PMC12808708 |
| Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives | 2026 | Review article Design not recorded in structured metadata | 4 | cc by PMID 41486746 · DOI · PMC12766151 |
PI3K/AKT/mTOR axis in vascular malformations: from molecular insights to targeted clinical trials [1]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundVascular malformations are congenital disorders characterized by abnormal blood and/or lymphatic vessels, often leading to pain, functional impairment, and severe complications.
- Closing excerpt
- Development of selective agents and rational combination strategies-guided by molecular profiling and validated in preclinical and clinical studies-will be essential to enhance efficacy while minimizing resistance and toxicity.
- 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 (177 words)
BackgroundVascular malformations are congenital disorders characterized by abnormal blood and/or lymphatic vessels, often leading to pain, functional impairment, and severe complications. Recent advances in molecular genetics have identified key mutations and signaling pathway aberrations, particularly in the PI3K/AKT/mTOR axis, as critical contributors to the etiology of vascular malformations.Main bodyThe PI3K/AKT/mTOR axis regulates essential endothelial cell processes, including proliferation, migration, and metabolism. Aberrant activation of this pathway is strongly linked to slow-flow vascular malformations and PIK3CA-related overgrowth spectrum, and increasing evidence also implicates it in fast-flow vascular malformations. These findings underscore the pathway as a promising therapeutic target. This review summarizes current mechanistic insights into PI3K/AKT/mTOR signaling in vascular malformations and examines the therapeutic potential of targeted inhibitors. By integrating results from clinical trials with emerging molecular research, it aims to guide clinical practice while providing future directions for translational investigation.ConclusionRecognition of PI3K/AKT/mTOR dysregulation provides a rationale for pathway-directed treatment. Development of selective agents and rational combination strategies-guided by molecular profiling and validated in preclinical and clinical studies-will be essential to enhance efficacy while minimizing resistance and toxicity.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41430313 · DOI · PMC12723890
Vascular malformations: from genetics to therapeutics [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Vascular malformations (VMs) are congenital disorders characterized by structurally abnormal blood and lymphatic vessels.
- Closing excerpt
- This review provides an overview of the genetic bases of VMs, recent advances in targeted therapies, and future directions in the field, highlighting the ongoing evolution of precision medicine for VMs.
- 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 (169 words)
Vascular malformations (VMs) are congenital disorders characterized by structurally abnormal blood and lymphatic vessels. Advances in genetics have revealed that most sporadic VMs result from post-zygotic variants in genes involved in key endothelial signaling pathways, including the phosphoinositide-3-kinase (PI3K) and the mitogen-associated proliferation kinase (MAPK) pathways. As these variants are shared with cancer, genetics now have theragnostic impact by helping predict relevant targeted therapies. mTOR and PI3Kα inhibitors such as sirolimus and alpelisib have shown promising efficacy in slow-flow VMs, while reports have suggested that MAPK inhibitors such as trametinib may improve arteriovenous malformations. Despite these advances, several challenges remain, including obtaining accurate genetic diagnosis, enhancing treatment efficacy while mitigating drug-related toxicities, and personalizing multimodal treatment strategies. Emerging approaches such as mutant-selective inhibitors, proteolysis-targeting chimeras, and gene therapy hold promises for improving treatment specificity and minimizing adverse effects. This review provides an overview of the genetic bases of VMs, recent advances in targeted therapies, and future directions in the field, highlighting the ongoing evolution of precision medicine for VMs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41272322 · DOI · PMC12808708
Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Familial cerebral cavernous malformations (FCCM) are a heritable neurovascular disorder defined by clusters of dilated, thin-walled capillaries in the brain and spinal cord.
- Closing excerpt
- By integrating molecular mechanisms with clinical relevance, it outlines a framework for understanding FCCM as a disorder of perturbed endothelial signaling and neurovascular homeostasis, and highlights opportunities to advance precision medicine for this challenging condition.
- 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 (182 words)
Familial cerebral cavernous malformations (FCCM) are a heritable neurovascular disorder defined by clusters of dilated, thin-walled capillaries in the brain and spinal cord. Although rare, FCCM offers a tractable model for understanding how genetic disruptions in endothelial junction biology, mechanotransduction, and kinase signaling drive vascular instability in the central nervous system. Pathogenic loss-of-function variants converge on signaling abnormalities that promote barrier dysfunction, iron deposition, inflammation, and progressive lesional growth. Clinically, FCCM may manifest with seizures, headaches, focal deficits, or intracerebral hemorrhage, yet many carriers remain asymptomatic owing to incomplete and age-dependent penetrance. Advances in neuroimaging have enhanced the detection of micro-lesions and iron accumulation, establishing these modalities as central biomarkers of disease expression. Complementing imaging, emerging circulating biomarkers, including inflammatory cytokines and plasma microRNAs associated with mutation status, may improve individualized risk stratification. This primer synthesizes current knowledge on FCCM pathophysiology, genetics, diagnostic strategies, and therapeutic perspectives. By integrating molecular mechanisms with clinical relevance, it outlines a framework for understanding FCCM as a disorder of perturbed endothelial signaling and neurovascular homeostasis, and highlights opportunities to advance precision medicine for this challenging condition.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41486746 · DOI · PMC12766151
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 [4]
- Research article Natural history of cavernous malformation: Systematic review and meta-analysis of 25 studies [5]
- Research article Intralesional Bleomycin Injections for Vascular Malformations: A Systematic Review and Meta-Analysis [6]
- Research article Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis [7]
- Research article Cerebral arterial fenestrations [8]
- Research article Endovascular Treatment of Vein of Galen Malformations: A Systematic Review and Meta-Analysis [9]
References
- Zheng YY, Hua C, Lin XX. PI3K/AKT/mTOR axis in vascular malformations: from molecular insights to targeted clinical trials. . 2025. PMID 41430313 · DOI · PMC12723890
- Morin G, Galasso I, Canaud G. Vascular malformations: from genetics to therapeutics. . 2026. PMID 41272322 · DOI · PMC12808708
- Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM. Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. . 2026. PMID 41486746 · DOI · PMC12766151
- 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
- Taslimi S, Modabbernia A, Amin-Hanjani S, Barker FG, Macdonald RL. Natural history of cavernous malformation: Systematic review and meta-analysis of 25 studies. Neurology. 2016. PMID 27164680 · DOI · PMC4887121
- Horbach SER, Rigter IM, Smitt JHS, Reekers JA, Spuls PI, van der Horst CMAM. Intralesional Bleomycin Injections for Vascular Malformations: A Systematic Review and Meta-Analysis. Plast Reconstr Surg. 2016. PMID 26710030 · 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
- Cooke DL, Stout CE, Kim WT, Kansagra AP, Yu JP, Gu A, et al.. Cerebral arterial fenestrations. Interv Neuroradiol. 2014. PMID 24976087 · DOI · PMC4178766
- Brinjikji W, Krings T, Murad MH, Rouchaud A, Meila D. Endovascular Treatment of Vein of Galen Malformations: A Systematic Review and Meta-Analysis. AJNR Am J Neuroradiol. 2017. PMID 28982789 · DOI · PMC7963723
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.
See how EvidenceLib is built. Spotted an error? Email support@evidencehelix.com.
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.