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Arteriovenous malformation

MedGen UID:
2042
Concept ID:
C0003857
Congenital Abnormality
Synonym: AVM
SNOMED CT: AV - Congenital arteriovenous anomaly (234141001); Congenital arteriovenous malformation (234141001); AV - Congenital arteriovenous malformation (234141001); AVM - Congenital arteriovenous malformation (234141001); Arteriovenous malformation (24551003)
 
HPO: HP:0100026

Definition

An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. [from HPO]

Conditions with this feature

Capillary malformation-arteriovenous malformation 1
MedGen UID:
1648501
Concept ID:
C4747394
Disease or Syndrome
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).

Professional guidelines

PubMed

Tjoumakaris SI, Hanel R, Mocco J, Ali-Aziz Sultan M, Froehler M, Lieber BB, Coon A, Tateshima S, Altschul DJ, Narayanan S, El Naamani K, Taussky P, Hoh BL, Meyers P, Gounis MJ, Liebeskind DS, Volovici V, Toth G, Arthur A, Wakhloo AK; ARISE I Consortium
Stroke 2024 May;55(5):1428-1437. Epub 2024 Apr 22 doi: 10.1161/STROKEAHA.123.046208. PMID: 38648283
Rosen A, Chan WV, Matelski J, Walsh C, Murji A
Fertil Steril 2021 Oct;116(4):1107-1116. Epub 2021 Jun 12 doi: 10.1016/j.fertnstert.2021.05.095. PMID: 34130801
Sami SS, Al-Araji SA, Ragunath K
Aliment Pharmacol Ther 2014 Jan;39(1):15-34. Epub 2013 Oct 20 doi: 10.1111/apt.12527. PMID: 24138285

Recent clinical studies

Etiology

Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
Rutledge C, Cooke DL, Hetts SW, Abla AA
Handb Clin Neurol 2021;176:171-178. doi: 10.1016/B978-0-444-64034-5.00020-1. PMID: 33272394
Shaligram SS, Winkler E, Cooke D, Su H
CNS Neurosci Ther 2019 Oct;25(10):1085-1095. Epub 2019 Jul 29 doi: 10.1111/cns.13200. PMID: 31359618Free PMC Article
Tellapuri S, Park HS, Kalva SP
Int J Cardiovasc Imaging 2019 Aug;35(8):1421-1428. Epub 2018 Nov 1 doi: 10.1007/s10554-018-1479-x. PMID: 30386957
Morgan MK
Handb Clin Neurol 2017;143:41-57. doi: 10.1016/B978-0-444-63640-9.00005-9. PMID: 28552157

Diagnosis

Riina HA
J Neurosurg 2019 Dec 1;131(6):1690-1701. doi: 10.3171/2019.8.JNS182678. PMID: 31786544
Szpera-Goździewicz A, Gruca-Stryjak K, Bręborowicz GH, Ropacka-Lesiak M
Ginekol Pol 2018;89(5):276-279. doi: 10.5603/GP.a2018.0047. PMID: 30084480
Foley LS, Kulungowski AM
Adv Pediatr 2015 Aug;62(1):227-55. doi: 10.1016/j.yapd.2015.04.009. PMID: 26205116
Barreau X, Marnat G, Gariel F, Dousset V
Diagn Interv Imaging 2014 Dec;95(12):1175-86. Epub 2014 Nov 24 doi: 10.1016/j.diii.2014.10.004. PMID: 25465120
Chou SC, Shyr YM, Wang SE
J Gastrointest Surg 2013 Jul;17(7):1240-6. Epub 2013 May 2 doi: 10.1007/s11605-013-2217-2. PMID: 23636883

Therapy

Mohr JP, Overbey JR, Hartmann A, Kummer RV, Al-Shahi Salman R, Kim H, van der Worp HB, Parides MK, Stefani MA, Houdart E, Libman R, Pile-Spellman J, Harkness K, Cordonnier C, Moquete E, Biondi A, Klijn CJM, Stapf C, Moskowitz AJ; ARUBA co-investigators
Lancet Neurol 2020 Jul;19(7):573-581. doi: 10.1016/S1474-4422(20)30181-2. PMID: 32562682
Sakai E, Ohata K, Nakajima A, Matsuhashi N
World J Gastroenterol 2019 Jun 14;25(22):2720-2733. doi: 10.3748/wjg.v25.i22.2720. PMID: 31235995Free PMC Article
Tellapuri S, Park HS, Kalva SP
Int J Cardiovasc Imaging 2019 Aug;35(8):1421-1428. Epub 2018 Nov 1 doi: 10.1007/s10554-018-1479-x. PMID: 30386957
Salem M, Gross BA, Du R, Thomas AJ
J Clin Neurosci 2015 May;22(5):775-8. Epub 2015 Feb 15 doi: 10.1016/j.jocn.2015.01.002. PMID: 25691077
Mohr JP, Parides MK, Stapf C, Moquete E, Moy CS, Overbey JR, Al-Shahi Salman R, Vicaut E, Young WL, Houdart E, Cordonnier C, Stefani MA, Hartmann A, von Kummer R, Biondi A, Berkefeld J, Klijn CJ, Harkness K, Libman R, Barreau X, Moskowitz AJ; international ARUBA investigators
Lancet 2014 Feb 15;383(9917):614-21. Epub 2013 Nov 20 doi: 10.1016/S0140-6736(13)62302-8. PMID: 24268105Free PMC Article

Prognosis

Pepper J, Lamin S, Thomas A, Walsh AR, Rodrigues D, Lo WB, Solanki GA
Childs Nerv Syst 2023 Apr;39(4):975-982. Epub 2022 Dec 29 doi: 10.1007/s00381-022-05800-4. PMID: 36580118
Ganz JC
Prog Brain Res 2022;268(1):75-97. Epub 2022 Jan 13 doi: 10.1016/bs.pbr.2021.10.027. PMID: 35074096
Prablek M, LoPresti MA, Du R, Lam S
Childs Nerv Syst 2021 Jul;37(7):2261-2268. Epub 2021 Apr 25 doi: 10.1007/s00381-021-05170-3. PMID: 33895871
Rutledge C, Cooke DL, Hetts SW, Abla AA
Handb Clin Neurol 2021;176:171-178. doi: 10.1016/B978-0-444-64034-5.00020-1. PMID: 33272394
Foley LS, Kulungowski AM
Adv Pediatr 2015 Aug;62(1):227-55. doi: 10.1016/j.yapd.2015.04.009. PMID: 26205116

Clinical prediction guides

Rutledge C, Cooke DL, Hetts SW, Abla AA
Handb Clin Neurol 2021;176:171-178. doi: 10.1016/B978-0-444-64034-5.00020-1. PMID: 33272394
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
Shaligram SS, Winkler E, Cooke D, Su H
CNS Neurosci Ther 2019 Oct;25(10):1085-1095. Epub 2019 Jul 29 doi: 10.1111/cns.13200. PMID: 31359618Free PMC Article
Feghali J, Yang W, Xu R, Liew J, McDougall CG, Caplan JM, Tamargo RJ, Huang J
Stroke 2019 Jul;50(7):1703-1710. Epub 2019 Jun 6 doi: 10.1161/STROKEAHA.119.025054. PMID: 31167618
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

Recent systematic reviews

Che Yusof R, Norhayati MN, Mohd Azman Y
Int J Environ Res Public Health 2022 Oct 13;19(20) doi: 10.3390/ijerph192013183. PMID: 36293763Free PMC Article
El-Abtah ME, Petitt JC, Kashkoush A, Achey R, Bain MD, Moore NZ
World Neurosurg 2022 Aug;164:257-269. Epub 2022 May 18 doi: 10.1016/j.wneu.2022.05.051. PMID: 35597540
Brosnan C, Amoo M, Javadpour M
Neurosurg Rev 2022 Jun;45(3):2051-2063. Epub 2022 Mar 9 doi: 10.1007/s10143-022-01766-8. PMID: 35260972Free PMC Article
Rosen A, Chan WV, Matelski J, Walsh C, Murji A
Fertil Steril 2021 Oct;116(4):1107-1116. Epub 2021 Jun 12 doi: 10.1016/j.fertnstert.2021.05.095. PMID: 34130801
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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