Novel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report.

Juvenile 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.