Ascending Aortic Rupture in a Young Woman with Loeys-Dietz Syndrome: The First Case Report in Korea.
- Author:
Hwan Wook KIM
1
;
Taek Yeon LEE
;
Duk Hwan MOON
;
Suk Jung CHOO
;
Cheol Hyun CHUNG
;
Jae Won LEE
Author Information
1. Department of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, The Catholic University of Korea, Korea.
- Publication Type:Case Report
- Keywords:
Aorta, surgery;
Aorta, abnormalities;
Rupture
- MeSH:
Aortic Rupture;
Connective Tissue;
Early Diagnosis;
Ehlers-Danlos Syndrome;
Female;
Humans;
Hypertelorism;
Korea;
Loeys-Dietz Syndrome;
Marfan Syndrome;
Palate;
Rupture;
Uvula
- From:The Korean Journal of Thoracic and Cardiovascular Surgery
2009;42(5):639-644
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Characterized by unique phenotypic features such as aortic aneurysm/dissection, hypertelorism, bifid uvula/cleft palate and generalized tortuosity in the arterial system, Loeys-Dietz syndrome is a newly described aggressive connective tissue disorder associated with mutation in the gene encoding transforming growth factor-beta receptor type I or type II. Some phenotypic manifestations of Loeys-Dietz syndrome overlap with those of Marfan syndrome or Ehlers-Danlos syndrome type IV. However, due to its more malignant pathophysiologic nature, physicians should be alert to Loeys-Dietz syndrome. High suspicion, early diagnosis, preventive surgery and serial imaging assessments are warranted for optimal management of Loeys-Dietz syndrome. We present here a case of a young patient with Loeys-Dietz syndrome who had aortic rupture, bifid uvula and hypertelorism. We also present a review of the medical literature.
