Article
Surgical experience in a patient with Loeys-Dietz syndrome type I.
The Annals of thoracic surgery - 1 May 2014
Beckmann Erik, Stiefel Penelope, Shrestha Malakh, Haverich Axel, Martens Andreas
Abstract excerpt
Loeys-Dietz syndrome is a recently described genetic disorder with aortic and vascular involvement. Here, we present the medical history and surgical management of a patient with Loeys-Dietz syndrome type I caused by a mutation in M253I in the TGFBR1 gene who received complete aortic replacement and various peripheral vascular surgeries over the course of 25 years.
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