Surgical experience in a patient with Loeys-Dietz syndrome type I.

Beckmann, Erik; Stiefel, Penelope; Shrestha, Malakh; Haverich, Axel; Martens, Andreas · Ann Thorac Surg · 2014

case_report · Level V

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Abstract

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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