Atrial septal defect with interatrial aneurysm and Axenfeld‐Rieger syndrome

PURPOSE: The aim of this presentation is to report a rare association between interatrial aneurysm and Axenfeld-Rieger syndrome. METHODS: We present a 20-year-old girl with Axenfeld-Rieger syndrome, in whom the diagnosis was confirmed by the facial dysmorphic appearance, slit-lamp examination, applanation tonometer, gonioscopy, and cardiovascular examination. RESULTS: The patient had prominent Schwalbe's line in all quadrants, iris atrophy, 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 syndrome and interatrial aneurysm. We would like to stress that aneurysm can be a potential occult source of cerebral embolism.