Novel GDF2 Gene Mutation Associated with Pulmonary Arteriovenous Malformation
Pulmonary arteriovenous malformations (PAVMs) are pathologic low-resistance conduits between a pulmonary artery and vein. Over 80% PAVMs occur in patients with hereditary hemorrhagic telangiectasia (HHT) and result from mutations in the transforming growth factor-beta signaling pathway. Mutations in the Growth Differentiation Factor 2 (GDF2) gene have recently been described to result in a vascular-anomaly syndrome with phenotypic overlap with HHT. We report a 43-year-old woman with **a PAVM related ischemic stroke** who was subsequently found to have a novel **GDF2 gene mutation**. The patient** underwent coil-embolization of the PAVM with stable clinical and radiographic follow-up**. It is important to diagnose PAVMs as they are an important cause of stroke-in-young; and can be treated definitively, reducing risk of recurrent stroke and migraine.