SynthesisChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2025
Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.
Synthesis in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Capillary Malformation-Arteriovenous Malformation Syndrome Associated with RASA1 and EPHB4 Mutations: Comparative Case Series and Narrative Review.Life (Basel, Switzerland) · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCapillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare genetic disorder characterized by cutaneous capillary malformations and fast-flow vascular lesions, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). CM-AVM is caused by mutations in RASA1 and EPHB4, leading to aberrant Ras-MAPK signaling.
methodsA systematic search of PubMed and Scopus was conducted for studies published until June 2025. The inclusion criteria were studies reporting cerebrovascular malformations in genetically confirmed CM-AVM cases. A total of 37 studies were included in the final analysis.
resultsThe review included 148 patients diagnosed with CM-AVM, with 86% carrying RASA1 mutations and 14% carrying EPHB4 mutations. The most common cerebrovascular lesions were pial AVFs (43.3%) and AVMs (36.0%), with a notable distinction between the two genetic subtypes. RASA1 mutations were associated with a broader range of lesions, including AVMs, pAVFs, and vGaMs, whereas EPHB4 mutations were predominantly linked to vGaMs. Nearly 25% of patients required endovascular embolization, and 5.3% underwent surgery. A significant difference in the cerebrovascular phenotype was observed between RASA1 and EPHB4 mutations, with the latter group presenting a narrower vascular phenotype.
conclusionThis review highlights the crucial need for screening cerebrovascular anomalies in CM-AVM patients due to potential misdiagnosis with HHT. Genetic testing is essential for confirmation, but regular imaging and clinical evaluation are key to detecting vascular lesions early, preventing severe neurological complications. Further research into additional genetic mutations may improve diagnostic accuracy and management strategies.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.