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Arteriovenous fistula of pulmonary vessels

MedGen UID:
102338
•Concept ID:
C0155675
•
Disease or Syndrome
Synonym: Pulmonary arteriovenous fistulas
SNOMED CT: Arteriovenous fistula of pulmonary vessels (111289009); Pulmonary arteriovenous fistula (111289009)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Non-Mendelian inheritance (Orphanet)
Unknown inheritance (Orphanet)
 
HPO: HP:0004952
OMIM®: 265140
Orphanet: ORPHA2038

Definition

A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArteriovenous fistula of pulmonary vessels

Professional guidelines

PubMed

Treatment of pulmonary arteriovenous malformations: clinical experience using different embolization strategies.
Adachi A, Ohta K, Jahangiri Y, Matsui Y, Horikawa M, Geeratikun Y, Chansanti O, Yata S, Fujii S, Steinberger J, Keller FS, Farsad K
Jpn J Radiol 2020 Apr;38(4):382-386. Epub 2020 Jan 7 doi: 10.1007/s11604-019-00916-1. PMID: 31912422
Medical management of haemorrhagic hereditary telangiectasia in adult patients.
Riera-Mestre A, Ribas J, Castellote J
Med Clin (Barc) 2019 Apr 5;152(7):274-280. Epub 2018 Nov 27 doi: 10.1016/j.medcli.2018.09.015. PMID: 30502301
ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation.
Hanley M, Ahmed O, Chandra A, Gage KL, Gerhard-Herman MD, Ginsburg M, Gornik HL, Johnson PT, Oliva IB, Ptak T, Steigner ML, Strax R, Rybicki FJ, Dill KE
J Am Coll Radiol 2016 Jul;13(7):796-800. Epub 2016 May 19 doi: 10.1016/j.jacr.2016.03.020. PMID: 27209598

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