Abstract
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.
Original language | English (US) |
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Article number | 105301 |
Journal | Journal of Stroke and Cerebrovascular Diseases |
Volume | 29 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2020 |
Externally published | Yes |
Keywords
- GDF2
- HHT
- PAVM
- Stroke
ASJC Scopus subject areas
- Surgery
- Rehabilitation
- Clinical Neurology
- Cardiology and Cardiovascular Medicine