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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.
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
MedGen UID:
463207
Concept ID:
C3151857
Disease or Syndrome
This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).

Professional guidelines

PubMed

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
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B
An Bras Dermatol 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. PMID: 29924216Free PMC Article
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

Recent clinical studies

Etiology

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
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
Mooney MA, Zabramski JM
Handb Clin Neurol 2017;143:279-282. doi: 10.1016/B978-0-444-63640-9.00026-6. PMID: 28552150
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
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954

Diagnosis

Kinnear C, Haranal M, Shannon P, Jaeggi E, Chitayat D, Mital S
Prenat Diagn 2019 Jan;39(1):38-44. Epub 2018 Dec 27 doi: 10.1002/pd.5395. PMID: 30548283Free PMC Article
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
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
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
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954

Therapy

Rudolph AM
Pediatr Res 2020 Mar;87(4):630-633. Epub 2019 Oct 10 doi: 10.1038/s41390-019-0604-4. PMID: 31600768
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
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B
An Bras Dermatol 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. PMID: 29924216Free PMC Article
Krings T, Geibprasert S, Terbrugge K
Neurosurg Clin N Am 2010 Jul;21(3):463-82. doi: 10.1016/j.nec.2010.03.010. PMID: 20561496
Ausman JI
Surg Neurol 2009 Sep;72(3):201-2. doi: 10.1016/j.surneu.2009.06.026. PMID: 19656497

Prognosis

Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
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
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
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
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954

Clinical prediction guides

Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
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
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
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
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

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
Oumer M, Alemayehu M, Muche A
BMC Neurosci 2021 Jan 21;22(1):3. doi: 10.1186/s12868-021-00609-4. PMID: 33478402Free PMC Article
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
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
Moroni F, Ammirati E, Magnoni M, D'Ascenzo F, Anselmino M, Anzalone N, Rocca MA, Falini A, Filippi M, Camici PG
Int J Cardiol 2016 Nov 15;223:681-687. Epub 2016 Aug 13 doi: 10.1016/j.ijcard.2016.08.234. PMID: 27568989

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