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

Year 2015, Volume: 1 Issue: 2, 27 - 28, 30.08.2015

Zeki Günaydın , Turgay Işık , Erkan Ayhan Osman Bektaş

https://doi.org/10.19127/mbsjohs.21708

Abstract

 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 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

References

• Loeys BL, Chen J, Neptune ER et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet.2005; 37: 275–81
• Loeys BL, Schwarze U, Holm T et al., Aneurysm syndromes caused by mutations in the TGF- β receptor . N Engl J Med, 2006; 355: 788– 98.
• MacCarrick G, Black JH, Bowdin S et al. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med, 2014; 16: 576-87.
• Williams JA, Loeys BL, Nwakanma LU et al., Early surgical experience with Loeys– Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg, 2007; 83: 757– 63.