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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
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Cerebral arteriovenous malformation (234142008); Congenital cerebral arteriovenous malformation (234142008); AVM - Cerebral arteriovenous malformation (234142008)
 
Genes (locations): IL6 (7p15.3); KRAS (12p12.1)
OMIM®: 108010
HPO: HP:0002408

Definition

An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke. [from NCI]

Clinical features

From HPO
Cerebral arteriovenous malformation
MedGen UID:
214590
Concept ID:
C0917804
Congenital Abnormality
An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke.
Cerebral arteriovenous malformation
MedGen UID:
214590
Concept ID:
C0917804
Congenital Abnormality
An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke.

Term Hierarchy

Conditions with this feature

Cerebral arteriovenous malformation
MedGen UID:
214590
Concept ID:
C0917804
Congenital Abnormality
An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke.
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.
Hereditary hemorrhagic telangiectasia 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.
Osler hemorrhagic telangiectasia syndrome
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

Shakur SF, Brunozzi D, Ismail R, Pandey D, Charbel FT, Alaraj A
World Neurosurg 2018 May;113:e654-e658. Epub 2018 Feb 26 doi: 10.1016/j.wneu.2018.02.116. PMID: 29496581
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
Chen GZ, Ke Y, Qin K, Dong MQ, Zeng SJ, Lin XF, Zhan SQ, Tang K, Peng C, Ding XW, Zhou D
Chin Med J (Engl) 2017 Oct 20;130(20):2465-2472. doi: 10.4103/0366-6999.216413. PMID: 29052569Free PMC Article
Shakur SF, Amin-Hanjani S, Abouelleil M, Aletich VA, Charbel FT, Alaraj A
Neurol Res 2017 Jan;39(1):7-12. Epub 2016 Nov 21 doi: 10.1080/01616412.2016.1258970. PMID: 27866455
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

Caranfa JT, Baldwin MT, Rutter CE, Bulsara KR
Neurochirurgie 2019 Feb;65(1):36-39. Epub 2019 Jan 9 doi: 10.1016/j.neuchi.2018.07.003. PMID: 30638546
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
Shakur SF, Brunozzi D, Ismail R, Pandey D, Charbel FT, Alaraj A
World Neurosurg 2018 May;113:e654-e658. Epub 2018 Feb 26 doi: 10.1016/j.wneu.2018.02.116. PMID: 29496581
Chen GZ, Ke Y, Qin K, Dong MQ, Zeng SJ, Lin XF, Zhan SQ, Tang K, Peng C, Ding XW, Zhou D
Chin Med J (Engl) 2017 Oct 20;130(20):2465-2472. doi: 10.4103/0366-6999.216413. PMID: 29052569Free PMC Article
Ogul H, Kantarci M
J Craniofac Surg 2017 Jun;28(4):e376-e377. doi: 10.1097/SCS.0000000000003690. PMID: 28328605

Therapy

Nas OF, Ozturk K, Gokalp G, Hakyemez B
Neuroradiol J 2017 Feb;30(1):96-98. Epub 2017 Jan 6 doi: 10.1177/1971400916678247. PMID: 28059672Free PMC Article
Fukuda K, Majumdar M, Masoud H, Nguyen T, Honarmand A, Shaibani A, Ansari S, Tan LA, Chen M
J Neurointerv Surg 2017 Jul;9(7):664-668. Epub 2016 Jun 22 doi: 10.1136/neurintsurg-2016-012485. PMID: 27334979
Koch MJ, Agarwalla PK, Stapleton CJ, Ogilvy CS, Loeffler JS
J Clin Neurosci 2016 Jun;28:162-7. Epub 2016 Feb 6 doi: 10.1016/j.jocn.2015.11.021. PMID: 26860850
Heit JJ, Faisal AG, Telischak NA, Choudhri O, Do HM
J Neurointerv Surg 2016 Nov;8(11):1181-1185. Epub 2015 Nov 24 doi: 10.1136/neurintsurg-2015-012094. PMID: 26603031
Ferreira R, Santos T, Amar A, Tahara SM, Chen TC, Giannotta SL, Hofman FM
Stroke 2014 Jan;45(1):293-7. Epub 2013 Nov 7 doi: 10.1161/STROKEAHA.113.003578. PMID: 24203843

Prognosis

Bican O, Cho C, Lee L, Nguyen V, Le S, Heit J, Lopez J
Clin Imaging 2018 Sep - Oct;51:155-159. Epub 2018 Feb 25 doi: 10.1016/j.clinimag.2018.02.014. PMID: 29501883
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
Hasegawa H, Hanakita S, Shin M, Sugiyama T, Kawashima M, Takahashi W, Nomoto AK, Shojima M, Nakatomi H, Saito N
World Neurosurg 2018 Jan;109:e715-e723. Epub 2017 Oct 21 doi: 10.1016/j.wneu.2017.10.071. PMID: 29066317
Chen GZ, Ke Y, Qin K, Dong MQ, Zeng SJ, Lin XF, Zhan SQ, Tang K, Peng C, Ding XW, Zhou D
Chin Med J (Engl) 2017 Oct 20;130(20):2465-2472. doi: 10.4103/0366-6999.216413. PMID: 29052569Free PMC Article
Qian H, Shao Y, Li Z, Huang P, Zou D, Liu N, Chen Y, Wan L
Am J Forensic Med Pathol 2016 Sep;37(3):201-4. doi: 10.1097/PAF.0000000000000247. PMID: 27367577

Clinical prediction guides

Bican O, Cho C, Lee L, Nguyen V, Le S, Heit J, Lopez J
Clin Imaging 2018 Sep - Oct;51:155-159. Epub 2018 Feb 25 doi: 10.1016/j.clinimag.2018.02.014. PMID: 29501883
Lv X, Wang G
Neuroradiol J 2018 Jun;31(3):224-229. Epub 2018 Feb 22 doi: 10.1177/1971400918759811. PMID: 29469668Free 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
Chen GZ, Ke Y, Qin K, Dong MQ, Zeng SJ, Lin XF, Zhan SQ, Tang K, Peng C, Ding XW, Zhou D
Chin Med J (Engl) 2017 Oct 20;130(20):2465-2472. doi: 10.4103/0366-6999.216413. PMID: 29052569Free PMC Article
Fukuda K, Majumdar M, Masoud H, Nguyen T, Honarmand A, Shaibani A, Ansari S, Tan LA, Chen M
J Neurointerv Surg 2017 Jul;9(7):664-668. Epub 2016 Jun 22 doi: 10.1136/neurintsurg-2016-012485. PMID: 27334979

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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