| Literature DB >> 27869423 |
Francisco Sánchez Ferrer1, María D Grima Murcia2.
Abstract
Axenfeld-Rieger syndrome is a congenital disease with an estimated prevalence of one in 200,000 individuals. This is an ophthalmic disorder related to anterior segment dysgenesis, which may be present from the neonatal period. It is associated with extraocular affectations such as cranial dimorphism, maxillofacial or dental anomalies. Cardiological or pituitary manifestations are less common. The congenital heart disease in Axenfeld-Rieger syndrome has been described in very few cases in the literature. We report a 7-year-old patient with Axenfeld-Rieger syndrome and mild mitral insufficiency since the age of 3 years, which is progressing to moderate mitral regurgitation at the present time. The cardiologic follow up may be indicated in patients with Axenfeld-Rieger syndrome. Sociedad Argentina de Pediatría.Entities:
Keywords: Axenfeld-Rieger syndrome; Heart diseases; Interdisciplinary health team; Mitral regurgitation
Mesh:
Year: 2016 PMID: 27869423 DOI: 10.5546/aap.2016.e417
Source DB: PubMed Journal: Arch Argent Pediatr ISSN: 0325-0075 Impact factor: 0.635