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CM-AVM is caused by mutations in RASA1 and EPHB4, leading to aberrant Ras-MAPK signaling.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00381-025-07089-5","type":"journal-article","created":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T03:09:42Z","timestamp":1765854582000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Capillary malformation\u2013arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations"],"prefix":"10.1007","volume":"41","author":[{"given":"Matteo","family":"Palermo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Olivi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo Lucio","family":"Sturiale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,12,16]]},"reference":[{"issue":"7","key":"7089_CR1","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1002\/humu.20746","volume":"29","author":"N Revencu","year":"2008","unstructured":"Revencu N, Boon LM, Mulliken JB et al (2008) <article-title update=\"added\">Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations. 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