Multidisciplinary Hybrid Approach to Management of a Thoracoabdominal Aneurysm in a Patient with Both Loeys-Dietz and Vascular Ehlers-Danlos Syndrome

Overview

Journal J Vasc Surg Cases Innov Tech

Date 2024 Jul 10

PMID 38982994

Authors

Nicolas A Stafforini

Nallely Saldana-Ruiz

Scott Deroo

Ulrike Schwarze

Matthew P Sweet

Sara L Zettervall

Affiliations

Soon will be listed here.

Abstract

Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome are genetic aortopathies that result from abnormal collagen matrix formation associated with vascular complications and early death. Identification of simultaneous COL3A1 and SMAD3 mutations as well as subsequent open and endovascular repair have not been reported. We present a case of a staged complete aortic replacement in a patient with a 7-cm aneurysm of his aortic arch and confirmed genetic mutations for Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome. This case highlights that, despite increased operative risk, successful staged repair of the entire aorta can be achieved in a patient with multiple severe genetic aortopathies.

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