Novel GDF2 Gene Mutation Associated with Pulmonary Arteriovenous Malformation

Karan K. Topiwala, Smit D. Patel, Amre M. Nouh, Mark J. Alberts

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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 languageEnglish (US)
Article number105301
JournalJournal of Stroke and Cerebrovascular Diseases
Issue number12
StatePublished - Dec 2020
Externally publishedYes


  • GDF2
  • HHT
  • PAVM
  • Stroke

ASJC Scopus subject areas

  • Surgery
  • Rehabilitation
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine


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