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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal cerebral vascular morphology

Disease
- Disorder by Site
  - Disorder of cardiovascular system
    - Abnormality of the cardiovascular system
      - Abnormal cardiovascular system morphology
        Abnormal vascular morphology
        Abnormal cerebral vascular morphology
        Abnormal cerebral artery morphology
        Abnormal circle of Willis morphology
        Abnormal posterior circulating artery morphology
        Arteriosclerosis of small cerebral arteries
        Cerebral artery atherosclerosis
        Cerebral artery stenosis
        Anterior cerebral artery stenosis
        Middle cerebral artery stenosis
        Posterior cerebral artery stenosis
        Dilatation of the cerebral artery
        Cerebral berry aneurysm
        Fusiform cerebral aneurysm
        Moyamoya phenomenon
        Tortuous cerebral arteries
        Abnormal cerebral vein morphology
        Abnormal cerebral venous sinus morphology
        Cerebral venous sinus thrombosis
        Persistent falcine venous sinus
        Cerebral venous angioma
        Frontal venous angioma
        Vein of Galen aneurysmal malformation
        Cerebral arteriovenous malformation
        Cerebral cavernous malformation
        Hereditary cavernous hemangioma of brain
        Cerebral cavernous malformation 1
        Cerebral cavernous malformation 2
        Cerebral cavernous malformation 3
        Cerebral cavernous malformation 4
        Cerebral vasculitis
        Dilation of Virchow-Robin spaces
        Intracranial hemorrhage
        Cerebellar hemorrhage
        Cerebral hemorrhage
        Antenatal intracerebral hemorrhage
        Basal ganglia hemorrhage
        Cerebral Hemorrhage Related to Birth
        Cerebral Intraventricular Hemorrhage
        Intraparenchymal Hemorrhage of the Newborn
        Intraventricular hemorrhage
        Periventricular Hemorrhage of the Newborn
        Recurrent cerebral hemorrhage
        Subependymal Hemorrhage
        Epidural hemorrhage
        Nontraumatic extradural hemorrhage
        Intracranial Hemorrhage, Hypertensive
        Intracranial Tumor Hemorrhage
        Perinatal intracranial hemorrhage
        Intracranial Hemorrhage Related to Birth
        Pituitary apoplexy
        Subarachnoid hemorrhage
        Subarachnoid Hemorrhage Related to Birth
        Subdural hemorrhage
        Hematoma, Subdural, Acute
        Hematoma, Subdural, Chronic
        Spinal subdural hematoma
        Subdural Hemorrhage Related to Birth
        Stroke disorder
        Brain infarction
        Brain stem infarction
        Cerebral infarction
        Lacunar stroke
        COVID-19-Associated Stroke
        Hemorrhagic Stroke
        Ischemic stroke
        Embolic stroke
        Thrombotic stroke
        Middle cerebral artery infarction
        Non-ischemic Stroke
        Overt Stroke
        Silent Stroke
        Stroke-like episode
        Venous Stroke

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: 33611507 Free 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

See all (249)

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: 31338212 Free 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

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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: 21219302 Free PMC Article

See all (4863)

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: 38070147 Free 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: 29298459 Free 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

See all (1361)

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

See all (2327)

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: 26711459 Free 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

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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

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: 35797006 Free 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: 29298459 Free PMC Article

Embolisation for pulmonary arteriovenous malformation.

Hsu CC, Kwan GN, Thompson SA, Evans-Barns H, van Driel ML
Cochrane Database Syst Rev 2015 Jan 29;1:CD008017. doi: 10.1002/14651858.CD008017.pub4. PMID: 25634560

See all (59)

MedGen

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Abnormal cerebral vascular morphology

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

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