EP162: Mosaic variant in ENG in infant with pulmonary arteriovenous malformations: Case report and review of hereditary hemorrhagic telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with age-related penetrance and an incidence of 1:10,000 in North America. A clinical diagnosis of HHT requires three of the following criteria: recurrent and spontaneous nosebleeds (epistaxis), mucocutaneous telangiectases, visceral arteriovenous malformations (AVMs), and family history of HHT. Epistaxis occurs in almost all individuals with HHT with average age of onset at 12 years of age and telangiectases usually appear later.