@article{article_207696, title={Coexistence of Bifid Uvula and Cardiac Manifestations in a Patient : Is it a Syndrome or Coincidence?}, journal={Middle Black Sea Journal of Health Science}, volume={1}, pages={27–28}, year={2015}, DOI={10.19127/mbsjohs.21708}, author={Günaydın, Zeki and Işık, Turgay and Ayhan, Erkan and Bektaş, Osman}, keywords={loeys-dietz syndrome, bifid uvula, atrial septal defect}, abstract={<p> Loeys-Dietz syndrome (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  <a href="http://www.medicinenet.com/marfan_syndrome/article.htm">Marfan syndrome </a>, and the vascular type of  <a href="http://www.medicinenet.com/ehlers-danlos_syndrome/article.htm">Ehlers-Danlos syndrome </a>. 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  <a href="http://www.medicinenet.com/brain_aneurysm/article.htm">aneurysm </a> 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.   </p>}, number={2}, publisher={Ordu University} }