This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Pulmonary arteriovenous malformation (PAVM) is a condition that affects blood flow between the heart and the lungs. Affected people have an abnormal connection between the pulmonary vein (carries blood from the lungs to the heart) and pulmonary artery (carries blood from the heart to the lungs). As a result, blood may not be properly oxygenated by the lungs. Some affected people may have no signs or symptoms of the condition. When present, symptoms may include difficulty breathing, nosebleeds, shortness of breath, difficulty exercising, and blue skin. Most people with PAVM have an inherited condition called hereditary hemorrhagic telangiectasia, which is inherited in an autosomal dominant manner. Other conditions that are less commonly associated with PAVM include liver disease (mainly liver cirrhosis), certain forms of congenital heart disease, chronic infections, and metastatic thyroid cancer. Treatment varies based on the severity of the condition and the associated signs and symptoms. When necessary, treatment typically includes embolization, surgery, and/or addressing associated conditions.
For more information, visit GARD.