Literature DB >> 10726801

Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome.

N A Bekir1, K Güngör.   

Abstract

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.

Entities:  

Mesh:

Year:  2000        PMID: 10726801     DOI: 10.1034/j.1600-0420.2000.078001101.x

Source DB:  PubMed          Journal:  Acta Ophthalmol Scand        ISSN: 1395-3907


  5 in total

1.  [Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension].

Authors:  P Dressler; E Gramer
Journal:  Ophthalmologe       Date:  2006-05       Impact factor: 1.059

Review 2.  Xenopus: An emerging model for studying congenital heart disease.

Authors:  Erin Kaltenbrun; Panna Tandon; Nirav M Amin; Lauren Waldron; Chris Showell; Frank L Conlon
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2011-04-28

3.  Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation.

Authors:  Simone Dressler; Philipp Meyer-Marcotty; Nicole Weisschuh; Anahita Jablonski-Momeni; Klaus Pieper; Gwendolyn Gramer; Eugen Gramer
Journal:  Case Rep Med       Date:  2010-03-21

4.  Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Authors:  Mallika Prem Senthil; Lachlan S W Knight; Deepa Taranath; David A Mackey; Jonathan B Ruddle; Mark Y Chiang; Owen M Siggs; Emmanuelle Souzeau; Jamie E Craig
Journal:  Cornea       Date:  2022-03-30       Impact factor: 3.152

5.  Lgr4 in ocular development and glaucoma.

Authors:  Stefan Siwko; Li Lai; Jinsheng Weng; Mingyao Liu
Journal:  J Ophthalmol       Date:  2013-06-05       Impact factor: 1.909

  5 in total

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