Akkus Mehmet Necdet, Argin Atilla
Departments of Cardiology Ophthalmology, Mersin University School of Medicine, Mersin, Turkey.
Clin Dysmorphol. 2010 Apr;19(2):56-61. 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.
Axenfeld-Rieger综合征是一种具有遗传异质性的常染色体显性疾病，其特征为眼前段、面部、牙齿和脐部的异常。与该综合征相关的其他许多眼外表现也有报道，包括先天性心脏缺陷。一些研究者认为，Axenfeld-Rieger综合征与先天性心脏缺陷并存并非偶然事件，而是代表一种独特的疾病实体。我们报告一个家族，三代中的四名成员具有Axenfeld-Rieger综合征的典型眼部特征。其中两名是兄弟姐妹，他们也患有先天性心脏缺陷。一名兄弟姐妹的先天性心脏缺陷为二叶式主动脉瓣异常伴严重狭窄和轻度反流，另一名为继发孔型房间隔缺损。据我们所知，此前尚未报道过兄弟姐妹中先天性心脏缺陷与Axenfeld-Rieger综合征并存的情况。我们的观察进一步强化了Axenfeld-Rieger综合征与先天性心脏缺陷相关并非偶然事件的观点。
