Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome

Purpose: The aim of this presentation is to report a rare association betwe en interatrial aneurysm and Axenfeld-Rieger syndrome. Methods: We present a 20-year-old girl with Axenfeld-Rieger syndrome, in wh om the diagnosis was confirmed by the facial dysmorphic appearance, slit-la mp examination, applanation tonometer, gonioscopy, and cardiovascular exami nation, Results: The patient had prominent Schwalbe's line in all quadrants, iris a trophy, and secondary glaucoma in both eyes. The echocardiogram revealed an atrial septal defect with interatrial aneurysm. Conclusion: This is the first case report of coexisting Axenfeld-Rieger syn drome and interatrial aneurysm. We would like to stress that aneurysm can b e a potential occult source of cerebral embolism.