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Congenital systemic arteriovenous fistula

MedGen UID:
1679454
Concept ID:
C5191839
Congenital Abnormality
Synonym: congenital systemic arteriovenous fistula
SNOMED CT: Congenital systemic arteriovenous fistula (786041005)
 
Monarch Initiative: MONDO:0016078
Orphanet: ORPHA2039

Definition

A rare potentially life-threatening vascular malformation with characteristics of a direct communication between an artery and a vein, without the interposition of the capillary bed, occurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital systemic arteriovenous fistula

Professional guidelines

PubMed

Rösch J, Petersen BD, Hall LD, Ivancev K
Cardiovasc Intervent Radiol 1990 Jun-Jul;13(3):183-8. doi: 10.1007/BF02575471. PMID: 2121346

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