Objawy pooperacyjnego zespołu Hornera po korekcji wrodzonej wady serca prowadzące ostatecznie do rozpoznania zespołu Axenfelda-Riegera

Abstract

Axenfeld-Rieger syndrome (ARS) is an uncommon, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and abdominal region. The coincidence of congenital heart defects and eye anomalies have been recently reported, as well as the genetic origin of these disorders. Clinical manifestation of the both the Horner’s and ARS resemble very similar therefore they could be easily misdiagnosed. The ARS is induced by spontaneous mutations in PITX2 and FOXC1 genes though. As in 50% cases of ARS the glaucoma develops, permanent ophthalmological care is necessary. 14-years-old patient in an early postoperative course after successful ostium secundum atrial septal defect surgery was observed with mild, iatrogenic Horner’s syndrome which coexisted with increased pericardial fluid. The ophthalmological examination revealed the iridial dysgenesis suggesting the ARS diagnosis. There were no recent abnormalities found in the optical coherent tomography (OCT) of the optic nerve. Thus, further OCT repeats and intraocular pressure measures under ophtalmological supervision were deputed. This case report confirms the coexistence of ARS and congenital heart defects, and emphasize the need of meticulous examination of any possible postoperative complications, and additional genetic defects.