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Cerebral arteriovenous malformation(BAVM)

MedGen UID:
214590
Concept ID:
C0917804
Congenital Abnormality
Synonyms: Arteriovenous Malformations; Arteriovenous malformations of the brain; BAVM; CEREBRAL ARTERIOVENOUS MALFORMATIONS; Cerebral AV malformation
SNOMED CT: Cerebral arteriovenous malformation (234142008); Congenital cerebral arteriovenous malformation (234142008); AVM - Cerebral arteriovenous malformation (234142008)
Modes of inheritance:
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Somatic mutation (HPO, OMIM)
 
Genes (locations): IL6 (7p15.3); KRAS (12p12.1)
 
HPO: HP:0002408
OMIM®: 108010
Orphanet: ORPHA46724

Definition

Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018). [from OMIM]

Clinical features

From HPO
Cerebral arteriovenous malformation
MedGen UID:
214590
Concept ID:
C0917804
Congenital Abnormality
Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018).
Cerebral arteriovenous malformation
MedGen UID:
214590
Concept ID:
C0917804
Congenital Abnormality
Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018).

Term Hierarchy

Conditions with this feature

Cerebral arteriovenous malformation
MedGen UID:
214590
Concept ID:
C0917804
Congenital Abnormality
Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018).
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
MedGen UID:
331400
Concept ID:
C1832942
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are most evident on the lips, tongue, buccal mucosa, face, chest, and fingers. The average age of onset is generally later than epistaxis, but may be during childhood. Large AVMs often cause symptoms when they occur in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. Approximately 25% of individuals with HHT have GI bleeding, which most commonly begins after age 50 years.
Telangiectasia, hereditary hemorrhagic, type 2
MedGen UID:
324960
Concept ID:
C1838163
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are most evident on the lips, tongue, buccal mucosa, face, chest, and fingers. The average age of onset is generally later than epistaxis, but may be during childhood. Large AVMs often cause symptoms when they occur in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. Approximately 25% of individuals with HHT have GI bleeding, which most commonly begins after age 50 years.
Hereditary hemorrhagic telangiectasia type 4
MedGen UID:
341824
Concept ID:
C1857688
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are most evident on the lips, tongue, buccal mucosa, face, chest, and fingers. The average age of onset is generally later than epistaxis, but may be during childhood. Large AVMs often cause symptoms when they occur in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. Approximately 25% of individuals with HHT have GI bleeding, which most commonly begins after age 50 years.
Hereditary hemorrhagic telangiectasia type 1
MedGen UID:
1643786
Concept ID:
C4551861
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are most evident on the lips, tongue, buccal mucosa, face, chest, and fingers. The average age of onset is generally later than epistaxis, but may be during childhood. Large AVMs often cause symptoms when they occur in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. Approximately 25% of individuals with HHT have GI bleeding, which most commonly begins after age 50 years.

Recent clinical studies

Etiology

Anderson JL, Khattab MH, Sherry AD, Luo G, Chitale RV, Froehler MT, Fusco MR, Cmelak AJ, Attia A
Neurosurgery 2020 Dec 15;88(1):122-130. doi: 10.1093/neuros/nyaa321. PMID: 32717053
Wang LJ, Xue Y, Huo R, Yan Z, Xu H, Li H, Wang J, Zhang Q, Cao Y, Zhao JZ
J Biomed Sci 2020 May 9;27(1):62. doi: 10.1186/s12929-020-00655-w. PMID: 32384926Free PMC Article
Sappenfield EC, Jha RT, Agazzi S, Ros S
BMJ Case Rep 2019 Jul 23;12(7) doi: 10.1136/bcr-2018-225811. PMID: 31340940Free PMC Article
Wen J, Lu J, Wu X, Chen F, Li N, He H, Wang X
Cell Transplant 2019 Aug;28(8):1018-1024. Epub 2019 Apr 24 doi: 10.1177/0963689719845366. PMID: 31018668Free PMC Article
Shakur SF, Amin-Hanjani S, Mostafa H, Aletich VA, Charbel FT, Alaraj A
J Clin Neurosci 2016 Nov;33:119-123. Epub 2016 Aug 29 doi: 10.1016/j.jocn.2016.02.034. PMID: 27595365

Diagnosis

Kazama H, Yoshioka H, Kanemaru K, Murayama H, Hashimoto K, Yagi T, Kinouchi H
World Neurosurg 2021 Jan;145:278-281. Epub 2020 Oct 1 doi: 10.1016/j.wneu.2020.09.138. PMID: 33010512
Teik CK, Basri NI, Abdul Karim AK, Azrai Abu M, Ahmad MF, Abdul Ghani NA, Hing EY, Zakaria R, A/L Thanabalan J, Abu Bakar A, Mohamed Ismail NA
Arch Iran Med 2019 Jun 1;22(6):340-343. PMID: 31356101
Sappenfield EC, Jha RT, Agazzi S, Ros S
BMJ Case Rep 2019 Jul 23;12(7) doi: 10.1136/bcr-2018-225811. PMID: 31340940Free PMC Article
Shen S, Liu X, Chen J, Yang C, Shi C, Zhou Q
BMC Ophthalmol 2019 Jul 12;19(1):148. doi: 10.1186/s12886-019-1160-8. PMID: 31299930Free PMC Article
Haryu S, Endo H, Endo T, Sato K, Fujimura M, Tominaga T
World Neurosurg 2018 Nov;119:274-277. Epub 2018 Aug 23 doi: 10.1016/j.wneu.2018.08.072. PMID: 30144609

Therapy

Tsang ACO, Wong DPH, Cheuk W, Fok KF
Br J Neurosurg 2021 Feb;35(1):116-118. Epub 2018 Feb 12 doi: 10.1080/02688697.2018.1439158. PMID: 29433331
Pereira RG, Niemeyer B, Ferreira C, Coutinho Pereira TRG, Gasparetto E, Marchiori E
Neurol India 2019 May-Jun;67(3):926. doi: 10.4103/0028-3886.263229. PMID: 31347593
Wang F, Yao XY, Gong Y, Yuan D, Wang HZ, Sun T
Neurol India 2019 Mar-Apr;67(2):536-539. doi: 10.4103/0028-3886.258029. PMID: 31085874
Peng SJ, Lee CC, Wu HM, Lin CJ, Shiau CY, Guo WY, Pan DH, Liu KD, Chung WY, Yang HC
Neuroimage Clin 2019;21:101608. Epub 2018 Nov 19 doi: 10.1016/j.nicl.2018.11.018. PMID: 30497981Free PMC Article
Umansky D, Corn BW, Strauss I, Shtraus N, Constantini S, Frolov V, Maimon S, Kanner AA
Childs Nerv Syst 2018 Nov;34(11):2269-2274. Epub 2018 Jun 7 doi: 10.1007/s00381-018-3854-2. PMID: 29882061

Prognosis

Kazama H, Yoshioka H, Kanemaru K, Murayama H, Hashimoto K, Yagi T, Kinouchi H
World Neurosurg 2021 Jan;145:278-281. Epub 2020 Oct 1 doi: 10.1016/j.wneu.2020.09.138. PMID: 33010512
Anderson JL, Khattab MH, Sherry AD, Luo G, Chitale RV, Froehler MT, Fusco MR, Cmelak AJ, Attia A
Neurosurgery 2020 Dec 15;88(1):122-130. doi: 10.1093/neuros/nyaa321. PMID: 32717053
Wang LJ, Xue Y, Huo R, Yan Z, Xu H, Li H, Wang J, Zhang Q, Cao Y, Zhao JZ
J Biomed Sci 2020 May 9;27(1):62. doi: 10.1186/s12929-020-00655-w. PMID: 32384926Free PMC Article
Teik CK, Basri NI, Abdul Karim AK, Azrai Abu M, Ahmad MF, Abdul Ghani NA, Hing EY, Zakaria R, A/L Thanabalan J, Abu Bakar A, Mohamed Ismail NA
Arch Iran Med 2019 Jun 1;22(6):340-343. PMID: 31356101
Sappenfield EC, Jha RT, Agazzi S, Ros S
BMJ Case Rep 2019 Jul 23;12(7) doi: 10.1136/bcr-2018-225811. PMID: 31340940Free PMC Article

Clinical prediction guides

Anderson JL, Khattab MH, Sherry AD, Luo G, Chitale RV, Froehler MT, Fusco MR, Cmelak AJ, Attia A
Neurosurgery 2020 Dec 15;88(1):122-130. doi: 10.1093/neuros/nyaa321. PMID: 32717053
Wang LJ, Xue Y, Huo R, Yan Z, Xu H, Li H, Wang J, Zhang Q, Cao Y, Zhao JZ
J Biomed Sci 2020 May 9;27(1):62. doi: 10.1186/s12929-020-00655-w. PMID: 32384926Free PMC Article
Arai N, Akiyama T, Fujiwara K, Koike K, Takahashi S, Horiguchi T, Jinzaki M, Yoshida K
Neuroradiology 2020 Apr;62(4):455-461. Epub 2020 Jan 3 doi: 10.1007/s00234-019-02345-3. PMID: 31898767
Wen J, Lu J, Wu X, Chen F, Li N, He H, Wang X
Cell Transplant 2019 Aug;28(8):1018-1024. Epub 2019 Apr 24 doi: 10.1177/0963689719845366. PMID: 31018668Free PMC Article
Mendoza-Elias N, Shakur SF, Charbel FT, Alaraj A
J Neurointerv Surg 2018 Aug;10(8):788-790. Epub 2017 Nov 28 doi: 10.1136/neurintsurg-2017-013580. PMID: 29184045

Recent systematic reviews

Akhigbe T, Zolnourian A, Bulters D
J Clin Neurosci 2017 May;39:45-48. Epub 2017 Feb 27 doi: 10.1016/j.jocn.2017.02.016. PMID: 28246008
Abecassis IJ, Xu DS, Batjer HH, Bendok BR
Neurosurg Focus 2014 Sep;37(3):E7. doi: 10.3171/2014.6.FOCUS14250. PMID: 25175445
Eden SV, Heisler M, Green C, Morgenstern LB
Neurocrit Care 2008;9(1):55-73. doi: 10.1007/s12028-007-9039-6. PMID: 18080805

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