Coexistence of Bifid Uvula and Cardiac Manifestations in a Patient : Is it a Syndrome or Coincidence?

Authors : Zeki Günaydın, Turgay Işık, Erkan Ayhan, Osman Bektaş

Pages : 27-28

Doi:10.19127/mbsjohs.21708

View : 26 | Download : 10

Publication Date : 2015-08-30

Article Type : Research Paper

Abstract : Loeys-Dietz syndrome insert ignore into journalissuearticles values(LDS); is a rare life-threatening condition, with autosomal-dominant inheritance, which is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2. It is characterized by a triad of tortuous arteries and aortic aneurysms, cleft palate or bifid uvula, and hypertelorism. Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of  Marfan syndrome , and the vascular type of  Ehlers-Danlos syndrome . In Loeys-Dietz syndrome, the aortic aneurysms are prone to rupture at a smaller size than other aneurysms, putting children with Loeys-Dietz at great risk for dying if the  aneurysm  is not identified and treated early. Here we report  54-year-old-man who had atrial septal defect,aortic root dilatation and bifid uvula, which  may be a variant of LDS.  
Keywords : loeys dietz syndrome, bifid uvula, atrial septal defect