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- Melanio Bruceta, Luisa De Souza, Zyad Carr, Anthony Bonavia, and Kunal Karamchandani.
- From the Department of Anesthesiology & Perioperative Medicine, Penn State University College of Medicine, Hershey, Pennsylvania.
- A A Pract. 2018 Jun 15; 10 (12): 331-334.
AbstractJuvenile polyposis syndrome is an autosomal-dominant disorder characterized by the presence of hundreds of gastrointestinal polyps. The genes most commonly found are BMPR1A and SMAD4. The latter has been linked to vascular malformations and hereditary hemorrhagic telangiectasias. We present the case of a young woman diagnosed with juvenile polyposis syndrome and SMAD-4 mutation, who developed embolic strokes from an atrial septal aneurysm and patent foramen ovale. This case highlights the propensity of patients with juvenile polyposis syndrome and SMAD-4 mutations to develop atrial septal aneurysm and patent foramen ovale, and warrants appropriate cardiac workup in at-risk individuals.
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