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Congenital arteriovenous fistula

MedGen UID:
137676
Concept ID:
C0332965
Congenital Abnormality
Synonym: Congenital arteriovenous shunt
SNOMED CT: Congenital arteriovenous fistula - disorder (234148007); Congenital AV - arteriovenous fistula (234148007); Congenital arteriovenous fistula (234148007)
 
Monarch Initiative: MONDO:0020296
Orphanet: ORPHA98731

Definition

A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Kanduri J, Falk Z, Singh HS
Curr Cardiol Rep 2024 May;26(5):373-379. Epub 2024 Mar 11 doi: 10.1007/s11886-024-02038-1. PMID: 38466533
Gailloud P
Handb Clin Neurol 2021;176:267-304. doi: 10.1016/B978-0-444-64034-5.00013-4. PMID: 33272400
Jindal G, Miller T, Raghavan P, Gandhi D
Radiol Clin North Am 2017 Jan;55(1):151-166. Epub 2016 Oct 25 doi: 10.1016/j.rcl.2016.08.003. PMID: 27890183

Recent clinical studies

Etiology

Du R, Liu B, Shao J, Chen Y, Li F, Zheng Y
Ann Vasc Surg 2017 Nov;45:265.e1-265.e4. Epub 2017 Jul 5 doi: 10.1016/j.avsg.2017.06.123. PMID: 28687503
Yung MC, Lai HC, Ming CW, Wang JS
J Chin Med Assoc 2008 Dec;71(12):651-4. doi: 10.1016/S1726-4901(09)70010-3. PMID: 19114332
Hamilton MC, Occleshaw CJ, Calder AL
Cardiol Young 2005 Aug;15(4):437-8. doi: 10.1017/S1047951105000922. PMID: 16014197
Nakstad PH, Haakonsen M, Magnaes B, Hetland S
Acta Radiol 1997 Jan;38(1):25-9. doi: 10.1080/02841859709171237. PMID: 9059397
Gabrielsen TO, Deveikis JP, Introcaso JH, Coran AG
AJNR Am J Neuroradiol 1994 Apr;15(4):653-7. PMID: 8010265Free PMC Article

Diagnosis

Ku L, He Y, Xia J, Ma X
Anatol J Cardiol 2022 Aug;26(8):E12-E13. doi: 10.5152/AnatolJCardiol.2022.2095. PMID: 35924297Free PMC Article
Li G, Hu X, Wang Y, Chen S
BMC Cardiovasc Disord 2020 Aug 17;20(1):376. doi: 10.1186/s12872-020-01660-5. PMID: 32807103Free PMC Article
Du R, Liu B, Shao J, Chen Y, Li F, Zheng Y
Ann Vasc Surg 2017 Nov;45:265.e1-265.e4. Epub 2017 Jul 5 doi: 10.1016/j.avsg.2017.06.123. PMID: 28687503
Yao M, Zhang Q, Wang J, Xiang F, Yu C, Lv Q, Xie M, Zhang Y
J Med Ultrason (2001) 2017 Jan;44(1):141-145. Epub 2016 Sep 9 doi: 10.1007/s10396-016-0719-8. PMID: 27613429
Pietri J, Remond A, Reix T, Abet D, Sevestre H, Sevestre MA
Ann Vasc Surg 1990 Nov;4(6):533-9. doi: 10.1016/S0890-5096(06)60834-0. PMID: 2261320

Therapy

Alarcón CM, Cubillana PL, Alemán AC, Avellaneda EC
Arch Esp Urol 2011 Dec;64(10):994-6. PMID: 22231666
Blaisdell FW, Stein M
Cardiovasc Surg 1998 Dec;6(6):566-8. doi: 10.1016/s0967-2109(98)00080-5. PMID: 10395256
Seidman E, Weber AM, Morin CL, Ethier R, Lamarche JB, Guerguérian AJ, Geoffroy G, Roy CC
Hepatology 1984 Sep-Oct;4(5):950-4. doi: 10.1002/hep.1840040528. PMID: 6332769

Prognosis

Kandemirli SG, Kizilkaya MH, Erdemli Gursel B, Akca T, Bostan OM
Surg Radiol Anat 2020 Apr;42(4):401-404. Epub 2019 Jul 10 doi: 10.1007/s00276-019-02282-z. PMID: 31292677
Hamilton MC, Occleshaw CJ, Calder AL
Cardiol Young 2005 Aug;15(4):437-8. doi: 10.1017/S1047951105000922. PMID: 16014197
Blaisdell FW, Stein M
Cardiovasc Surg 1998 Dec;6(6):566-8. doi: 10.1016/s0967-2109(98)00080-5. PMID: 10395256
Nakstad PH, Haakonsen M, Magnaes B, Hetland S
Acta Radiol 1997 Jan;38(1):25-9. doi: 10.1080/02841859709171237. PMID: 9059397
Pietri J, Remond A, Reix T, Abet D, Sevestre H, Sevestre MA
Ann Vasc Surg 1990 Nov;4(6):533-9. doi: 10.1016/S0890-5096(06)60834-0. PMID: 2261320

Clinical prediction guides

Liu M, Yang Y, Wu W, Zhang L, Li Y, Xie M
Cardiol J 2019;26(6):812-813. doi: 10.5603/CJ.2019.0124. PMID: 31970745Free PMC Article
Pietri J, Remond A, Reix T, Abet D, Sevestre H, Sevestre MA
Ann Vasc Surg 1990 Nov;4(6):533-9. doi: 10.1016/S0890-5096(06)60834-0. PMID: 2261320

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