Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Abstract

Pulmonary arteriovenous malformations (PAVM) are generally congenital lesions caused by abnormal capillary development. Lesions can be in the form of isolated anomaly or as part of autosomal dominantly inherited hereditary hemorrhagic telengiectasia (HHT). HHT is the most common hereditary vascular disease characterized by mocucutaneuos telengiectasia and visceral arteriovenous malformations. PAVMs can be asymptomatic or can present with effort dyspnea, palpitations and fatigue especially in cases with HHT. Herein, we present a 13 year-old girl diagnosed with PAVM with polycythemia, clubbing, cyanosis and radiological features; and had accompanying history of epistaxis in family and telengiectasia in oral mucosa as parts of HHT. She was treated by endovascular embolization.