open access

Vol 13, No 1 (2018)
Cardiac Surgery
Published online: 2017-10-12
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Postoperative Horner’s syndrome after congenital heart surgery finally evolving to Axenfeld-Rieger syndrome diagnosis

Julia Haponiuk, Ewelina Kwaśniak, Karolina Andrzejczyk, Maciej Chojnicki, Mariusz Steffens, Konrad Paczkowski, Katarzyna Gierat-Haponiuk, Anna Romanowicz, Marta Paśko-Majewska, Ireneusz Haponiuk
DOI: 10.5603/FC.a2017.0082
·
Folia Cardiologica 2018;13(1):79-82.

open access

Vol 13, No 1 (2018)
Cardiac Surgery
Published online: 2017-10-12

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.

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.
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Keywords

congenital heart defects, Axenfeld-Rieger syndrome, Horner’s syndrome, pediatric cardiac surgery

About this article
Title

Postoperative Horner’s syndrome after congenital heart surgery finally evolving to Axenfeld-Rieger syndrome diagnosis

Journal

Folia Cardiologica

Issue

Vol 13, No 1 (2018)

Pages

79-82

Published online

2017-10-12

DOI

10.5603/FC.a2017.0082

Bibliographic record

Folia Cardiologica 2018;13(1):79-82.

Keywords

congenital heart defects
Axenfeld-Rieger syndrome
Horner’s syndrome
pediatric cardiac surgery

Authors

Julia Haponiuk
Ewelina Kwaśniak
Karolina Andrzejczyk
Maciej Chojnicki
Mariusz Steffens
Konrad Paczkowski
Katarzyna Gierat-Haponiuk
Anna Romanowicz
Marta Paśko-Majewska
Ireneusz Haponiuk

References (6)
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  2. Kaya SO, Liman ST, Bir LS, et al. Horner's syndrome as a complication in thoracic surgical practice. Eur J Cardiothorac Surg. 2003; 24(6): 1025–1028.
  3. Nasser BA, Mesned A, Moazamy YE, Kabbani MS. Horner's syndrome after paediatric cardiac surgery: case report and review of the literature. Cambridge University Press April 2014.
  4. Zagórski Z, Naumann GO. Choroby rogówki, twardówki i powierzchni oka, wyd. 1. Wydawnictwo Czelej .
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  6. Gripp KW, Hopkins E, Jenny K, et al. Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. Am J Med Genet A. 2013; 161A(1): 114–119.

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