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arteriovenous malformations

arterioveinous malformation, arterio-venous malformation, AVM

 

Localization

-  cerebral arteriovenous malformation (MIM.108010)
-  pulmonary arteriovenous malformation (MIM.265140)
-  hepatic arteriovenous malformation
-  cutaneous arteriovenous malformation
-  digestive arteriovenous malformation

Predisposition syndromes

-  hereditary hemorrhagic telangiectasia type 1 (HHT-1) (MIM.187300) (9q34.1 and endoglin mutations)
-  hereditary hemorrhagic telangiectasia type 2 (HHT-2) (MIM.600376) (12q and activin receptor-like kinase-1 gene mutations ACVRLK1 (MIM.601284)
-  hereditary neurocutaneous angioma (MIM.106070)

Associations

-  angiokeratoma corporis diffusum (MIM.600419)

Differential diagnosis

-  cerebral cavernous malformations (MIM.116860)
-  juvenile polyposis (MIM.175050)
-  lymphedema (MIM.152900)


Pulmonary arteriovenous malformation

Pulmonary arteriovenous malformation

Pulmonary arteriovenous malformation

Intestinal arteriovenous malformation

Pulmonary arteriovenous malformation

Cutaneous arteriovenous malformation

Cutaneous arteriovenous malformation

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