Korean J Thorac Cardiovasc Surg.  2009 Oct;42(5):639-644.

Ascending Aortic Rupture in a Young Woman with Loeys-Dietz Syndrome: The First Case Report in Korea

• Kim HW
• Lee TY
• Moon DH
• Choo SJ
• Chung CH
• Lee JW

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.

Keyword

Aorta, surgery; Aorta, abnormalities; Rupture

MeSH Terms

Aortic Rupture
Connective Tissue
Early Diagnosis
Ehlers-Danlos Syndrome
Female
Humans
Hypertelorism
Korea
Loeys-Dietz Syndrome
Marfan Syndrome
Palate
Rupture
Uvula