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Loeys-Dietz Syndrome Presenting with an Abdominal Aortic Aneurysm: A Case Report

Overview
Journal Ann Vasc Dis
Specialty Cardiology & Vascular Diseases
Date 2024 Dec 27
PMID 39726561
Authors
Kazuki Tsukuda
Yohei Yamamoto
Ai Kazama
Yoshiki Wada
Hiroki Uchiyama
Toru Kikuchi
Toshifumi Kudo
Affiliations
Soon will be listed here.
Abstract

Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder associated with vascular involvement and craniofacial, skeletal, and cutaneous abnormalities. Herein, we describe the case of a 28-year-old female who presented with a pulsatile mass in her abdomen. Imaging studies revealed multiple aneurysms, including a 53-mm abdominal aortic aneurysm (AAA) and tortuosity of the intracranial arterial vasculature. Genetic testing revealed a mutation in transforming growth factor beta receptor 1, leading to a diagnosis of LDS. The patient underwent open surgical repair of AAA. Other arterial lesions were carefully followed. This case demonstrates that AAA can be a primary manifestation of LDS.

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