{"title":"以腹主动脉瘤为表现的Loeys-Dietz综合征1例。","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":"{\"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}","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}
Loeys-Dietz Syndrome Presenting with an Abdominal Aortic Aneurysm: A Case Report.
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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