{"title":"Loeys-Dietz Syndrome Presenting with an Abdominal Aortic Aneurysm: A Case Report.","authors":"Kazuki Tsukuda, Yohei Yamamoto, Ai Kazama, Yoshiki Wada, Hiroki Uchiyama, Toru Kikuchi, Toshifumi Kudo","doi":"10.3400/avd.cr.24-00098","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":7995,"journal":{"name":"Annals of vascular diseases","volume":"17 4","pages":"440-442"},"PeriodicalIF":0.6000,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669019/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of vascular diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3400/avd.cr.24-00098","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/26 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PERIPHERAL VASCULAR DISEASE","Score":null,"Total":0}
引用次数: 0
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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