Human Gene Set: HP_PULMONARY_ARTERIOVENOUS_MALFORMATION
Standard name
HP_PULMONARY_ARTERIOVENOUS_MALFORMATION
Systematic name
M48740
Brief description
Pulmonary arteriovenous malformation
Full description or abstract
Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. [PMID:30386957, PMID:788535]
