Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family

• Published in: Clinical dysmorphology Vol. 19; no. 2; p. 56
• Main Authors: Akkus, Mehmet Necdet, Argin, Atilla
• Format: Journal Article
• Language: English
• Published: England 01.04.2010
• Subjects: Abnormalities, Multiple - pathology; Adult; Aortic Valve - diagnostic imaging; Aortic Valve - pathology; Eye Abnormalities - complications; Family; Female; Heart Defects, Congenital - complications; Heart Defects, Congenital - diagnostic imaging; Humans; Infant; Infant, Newborn; Male; Pregnancy; Siblings; Syndrome; Ultrasonography; Young Adult
• ISSN: 1473-5717
• DOI: 10.1097/MCD.0b013e328335c1ce

Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and umbilicus. Many other extraocular findings, including congenital heart defects, have been reported in association with this syndrome. It has been suggested by some investigators that the coexistence of Axenfeld-Rieger syndrome and congenital heart defects is not a chance event but it represents a distinct entity. We report a family in which four members in three generations have typical ocular features of Axenfeld-Rieger syndrome. Two of them, who are siblings, also have congenital heart defects. The congenital heart defect was bicuspid aortic valve anomaly with severe stenosis and mild regurgitation in one sibling and ostium secundum atrial septal defect in the other. To our knowledge, the combination of congenital heart defects with Axenfeld-Rieger syndrome in siblings has not been reported previously. Our observation further strengthens the notion that Axenfeld-Rieger syndrome associated with congenital heart defects is not a chance event.