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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

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Curr Cardiol Rep 2024 May;26(5):373-379. Epub 2024 Mar 11 doi: 10.1007/s11886-024-02038-1. PMID: 38466533
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Billig DM
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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
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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
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RAVITCH MM, GAERTNER RA
Bull Johns Hopkins Hosp 1960 Jul;107:31-56. PMID: 14436578

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
Díaz Ballesteros F, Páramo Díaz M, Pineda Mañón J, López Silva J, Guerrero Flores E
J Cardiovasc Surg (Torino) 1973;Spec No:437-42. PMID: 4806887
Suen JY, Boellner SW, Araoz CA, Boop WC Jr
J Pediatr 1972 May;80(5):837-8. doi: 10.1016/s0022-3476(72)80142-2. PMID: 5018396
Stanford W, Fixler DE, Armstrong RG, Lindberg EF, Johnson HH
J Thorac Cardiovasc Surg 1970 Aug;60(2):248-52. PMID: 5451068
Ehrlich FE, Carey L, Kitrinos NP
J Neurosurg 1968 Dec;29(6):629-30. doi: 10.3171/jns.1968.29.6.0629. PMID: 5708036

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
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
Görlach G, Hagel KH, Mulch J, Scheld HH, Hehrlein FW
J Cardiovasc Surg (Torino) 1984 Jul-Aug;25(4):378-80. PMID: 6480688
RAVITCH MM, GAERTNER RA
Bull Johns Hopkins Hosp 1960 Jul;107:31-56. PMID: 14436578

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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