Article
A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm.
Annals of the Royal College of Surgeons of England - 1 Mar 2017
Harky A, Garner M, Roberts N
Abstract excerpt
Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our...
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