Progressive moderate mitral regurgitation in a children with Axenfeld-Rieger syndrome. The importance of cardiologic follow up

• Published in: Archivos argentinos de pediatría Vol. 114; no. 6; pp. e417 - e420
• Main Authors: Sánchez Ferrer, Francisco, Grima Murcia, María D
• Format: Journal Article
• Language: Spanish
• Published: Argentina 01.12.2016
• Subjects: Anterior Eye Segment - abnormalities; Child; Disease Progression; Eye Abnormalities - complications; Follow-Up Studies; Humans; Male; Mitral Valve Insufficiency - etiology; Severity of Illness Index; Interdisciplinary health team; Mitral regurgitation; Heart diseases; Axenfeld-Rieger syndrome
• ISSN: 1668-3501
• DOI: 10.5546/aap.2016.e417

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.