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.