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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
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.  

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.
Year 2015, Volume: 1 Issue: 2, 27 - 28, 30.08.2015
https://doi.org/10.19127/mbsjohs.21708

Abstract

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.
There are 4 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Letter to Editor
Authors

Zeki Günaydın

Turgay Işık

Erkan Ayhan This is me

Osman Bektaş

Publication Date August 30, 2015
Published in Issue Year 2015 Volume: 1 Issue: 2

Cite

Vancouver Günaydın Z, Işık T, Ayhan E, Bektaş O. Coexistence of Bifid Uvula and Cardiac Manifestations in a Patient : Is it a Syndrome or Coincidence?. Mid Blac Sea J Health Sci. 2015;1(2):27-8.

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