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KMID : 0364020090420050639
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Korean Journal of Thoracic and Cardiovascular Surgery
2009 Volume.42 No. 5 p.639 ~ p.644
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Ascending Aortic Rupture in a Young Woman with Loeys-Dietz Syndrome: The First Case Report in Korea
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Kim Hwan-Wook
Lee Taek-Yeon
Moon Duk-Hwan
Choo Suk-Jung
Chung Cheol-Hyun
Lee Jae-Won
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Abstract
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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-? 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.
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KEYWORD
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Aorta surgery, Aorta abnormalities, Rupture
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