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Abnormal cerebral vascular morphology

MedGen UID:
867613
•Concept ID:
C4022001
•
Anatomical Abnormality
Synonyms: Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature
 
HPO: HP:0100659

Definition

An anomaly of the cerebral blood vessels. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal cerebral vascular morphology

Conditions with this feature

Lymphedema-cerebral arteriovenous anomaly syndrome
MedGen UID:
322617
•Concept ID:
C1835272
•
Disease or Syndrome
Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.
See: Condition Record
Lymphedema-cerebral arteriovenous anomaly syndrome

Professional guidelines

PubMed

The Second NINDS/NIBIB Consensus Meeting to Define Neuropathological Criteria for the Diagnosis of Chronic Traumatic Encephalopathy.
Bieniek KF, Cairns NJ, Crary JF, Dickson DW, Folkerth RD, Keene CD, Litvan I, Perl DP, Stein TD, Vonsattel JP, Stewart W, Dams-O'Connor K, Gordon WA, Tripodis Y, Alvarez VE, Mez J, Alosco ML, McKee AC; TBI/CTE Research Group
J Neuropathol Exp Neurol 2021 Feb 22;80(3):210-219. doi: 10.1093/jnen/nlab001. PMID: 33611507Free PMC Article
Overcoming the blood-brain tumor barrier for effective glioblastoma treatment.
van Tellingen O, Yetkin-Arik B, de Gooijer MC, Wesseling P, Wurdinger T, de Vries HE
Drug Resist Updat 2015 Mar;19:1-12. Epub 2015 Mar 6 doi: 10.1016/j.drup.2015.02.002. PMID: 25791797
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; HHT Foundation International - Guidelines Working Group
J Med Genet 2011 Feb;48(2):73-87. Epub 2009 Jun 23 doi: 10.1136/jmg.2009.069013. PMID: 19553198

Recent clinical studies

Etiology

CCM3 and cerebral cavernous malformation disease.
Wang K, Zhou HJ, Wang M
Stroke Vasc Neurol 2019 Jul;4(2):67-70. Epub 2019 Mar 2 doi: 10.1136/svn-2018-000195. PMID: 31338212Free PMC Article
Small vessel disease: mechanisms and clinical implications.
Wardlaw JM, Smith C, Dichgans M
Lancet Neurol 2019 Jul;18(7):684-696. Epub 2019 May 13 doi: 10.1016/S1474-4422(19)30079-1. PMID: 31097385
Pediatric Congenital Cerebrovascular Anomalies.
Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B
J Neuroimaging 2019 Mar;29(2):165-181. Epub 2018 Oct 31 doi: 10.1111/jon.12575. PMID: 30378722
Developmental venous anomalies.
Mooney MA, Zabramski JM
Handb Clin Neurol 2017;143:279-282. doi: 10.1016/B978-0-444-63640-9.00026-6. PMID: 28552150
Pulmonary arteriovenous malformations.
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954

Diagnosis

Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
CLOVE Syndrome.
Kasinathan A, Sankhyan N, Ahuja CK, Singhi P
Indian J Pediatr 2018 Jan;85(1):79-80. Epub 2017 Jul 28 doi: 10.1007/s12098-017-2416-z. PMID: 28752282
Deregulated TGF-β/BMP Signaling in Vascular Malformations.
Cunha SI, Magnusson PU, Dejana E, Lampugnani MG
Circ Res 2017 Sep 29;121(8):981-999. doi: 10.1161/CIRCRESAHA.117.309930. PMID: 28963191
Pulmonary arteriovenous malformations.
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission.
Blümcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, Jacques TS, Avanzini G, Barkovich AJ, Battaglia G, Becker A, Cepeda C, Cendes F, Colombo N, Crino P, Cross JH, Delalande O, Dubeau F, Duncan J, Guerrini R, Kahane P, Mathern G, Najm I, Ozkara C, Raybaud C, Represa A, Roper SN, Salamon N, Schulze-Bonhage A, Tassi L, Vezzani A, Spreafico R
Epilepsia 2011 Jan;52(1):158-74. Epub 2010 Nov 10 doi: 10.1111/j.1528-1167.2010.02777.x. PMID: 21219302Free PMC Article

Therapy

Abnormal vascular structure and function within brain metastases is linked to pembrolizumab resistance.
Kim AE, Lou KW, Giobbie-Hurder A, Chang K, Gidwani M, Hoebel K, Patel JB, Cleveland MC, Singh P, Bridge CP, Ahmed SR, Bearce BA, Liu W, Fuster-Garcia E, Lee EQ, Lin NU, Overmoyer B, Wen PY, Nayak L, Cohen JV, Dietrich J, Eichler A, Heist R, Krop I, Lawrence D, Ligibel J, Tolaney S, Mayer E, Winer E, Perrino CM, Summers EJ, Mahar M, Oh K, Shih HA, Cahill DP, Rosen BR, Yen YF, Kalpathy-Cramer J, Martinez-Lage M, Sullivan RJ, Brastianos PK, Emblem KE, Gerstner ER
Neuro Oncol 2024 May 3;26(5):965-974. doi: 10.1093/neuonc/noad236. PMID: 38070147Free PMC Article
Neuropathology of Anti-Amyloid-β Immunotherapy: A Case Report.
Castellani RJ, Shanes ED, McCord M, Reish NJ, Flanagan ME, Mesulam MM, Jamshidi P
J Alzheimers Dis 2023;93(2):803-813. doi: 10.3233/JAD-221305. PMID: 37125554
The potential for remodelling the tumour vasculature in glioblastoma.
Brighi C, Puttick S, Rose S, Whittaker AK
Adv Drug Deliv Rev 2018 Nov-Dec;136-137:49-61. Epub 2018 Oct 9 doi: 10.1016/j.addr.2018.10.001. PMID: 30308226
Embolisation for pulmonary arteriovenous malformation.
Hsu CC, Kwan GN, Evans-Barns H, van Driel ML
Cochrane Database Syst Rev 2018 Jan 4;1(1):CD008017. doi: 10.1002/14651858.CD008017.pub5. PMID: 29298459Free PMC Article
In this issue..
Ausman JI
Surg Neurol 2009 Sep;72(3):201-2. doi: 10.1016/j.surneu.2009.06.026. PMID: 19656497

Prognosis

Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Small vessel disease: mechanisms and clinical implications.
Wardlaw JM, Smith C, Dichgans M
Lancet Neurol 2019 Jul;18(7):684-696. Epub 2019 May 13 doi: 10.1016/S1474-4422(19)30079-1. PMID: 31097385
Pediatric Congenital Cerebrovascular Anomalies.
Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B
J Neuroimaging 2019 Mar;29(2):165-181. Epub 2018 Oct 31 doi: 10.1111/jon.12575. PMID: 30378722
Pulmonary arteriovenous malformations.
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954
In this issue..
Ausman JI
Surg Neurol 2009 Sep;72(3):201-2. doi: 10.1016/j.surneu.2009.06.026. PMID: 19656497

Clinical prediction guides

Small vessel disease: mechanisms and clinical implications.
Wardlaw JM, Smith C, Dichgans M
Lancet Neurol 2019 Jul;18(7):684-696. Epub 2019 May 13 doi: 10.1016/S1474-4422(19)30079-1. PMID: 31097385
RETINAL ARTERIOVENOUS MALFORMATION.
Patel KH, Kalevar A, McDonald HR, Johnson RN
Retin Cases Brief Rep 2017 Winter;11 Suppl 1:S11-S13. doi: 10.1097/ICB.0000000000000384. PMID: 27533644
Cerebrovascular disease in ageing and Alzheimer's disease.
Love S, Miners JS
Acta Neuropathol 2016 May;131(5):645-58. Epub 2015 Dec 28 doi: 10.1007/s00401-015-1522-0. PMID: 26711459Free PMC Article
Brain arteriovenous malformations.
Lawton MT, Rutledge WC, Kim H, Stapf C, Whitehead KJ, Li DY, Krings T, terBrugge K, Kondziolka D, Morgan MK, Moon K, Spetzler RF
Nat Rev Dis Primers 2015 May 28;1:15008. doi: 10.1038/nrdp.2015.8. PMID: 27188382
Neuropathology of holoprosencephaly.
Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606

Recent systematic reviews

Placental fetal vascular malperfusion, neonatal neurologic morbidity, and infant neurodevelopmental outcomes: a systematic review and meta-analysis.
Spinillo A, Dominoni M, Mas FD, Cesari S, Fiandrino G, Gardella B
Am J Obstet Gynecol 2023 Dec;229(6):632-640.e2. Epub 2023 Jun 12 doi: 10.1016/j.ajog.2023.06.014. PMID: 37315755
ICA agenesis with transcavernous anastomosis: a systematic review.
Chaudhary RK, Groskreutz D, Gupta E, Baghdadi Y, Smith S, Sapire J
Surg Radiol Anat 2023 Jun;45(6):777-786. Epub 2023 Mar 11 doi: 10.1007/s00276-023-03117-8. PMID: 36899092
Gait in cerebral small vessel disease, pre-dementia, and dementia: A systematic review.
Blumen HM, Jayakody O, Verghese J
Int J Stroke 2023 Jan;18(1):53-61. Epub 2022 Sep 9 doi: 10.1177/17474930221114562. PMID: 35797006Free PMC Article
Tumefactive Virchow-Robin spaces.
Kwee RM, Kwee TC
Eur J Radiol 2019 Feb;111:21-33. Epub 2018 Dec 13 doi: 10.1016/j.ejrad.2018.12.011. PMID: 30691661
Embolisation for pulmonary arteriovenous malformation.
Hsu CC, Kwan GN, Evans-Barns H, van Driel ML
Cochrane Database Syst Rev 2018 Jan 4;1(1):CD008017. doi: 10.1002/14651858.CD008017.pub5. PMID: 29298459Free PMC Article

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