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以腹主动脉瘤为表现的洛伊斯-迪茨综合征：一例报告

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

作者信息

Tsukuda Kazuki, Yamamoto Yohei, Kazama Ai, Wada Yoshiki, Uchiyama Hiroki, Kikuchi Toru, Kudo Toshifumi

机构信息

Division of Vascular Surgery, Department of Cardiovascular Surgery, Tokyo Medical and Dental University, Tokyo, Japan.

出版信息

Ann Vasc Dis. 2024 Dec 25;17(4):440-442. doi: 10.3400/avd.cr.24-00098. Epub 2024 Nov 26.

DOI:10.3400/avd.cr.24-00098
PMID:39726561
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11669019/
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.

摘要

洛伊斯-迪茨综合征（LDS）是一种遗传性结缔组织疾病，与血管受累以及颅面、骨骼和皮肤异常有关。在此，我们描述了一名28岁女性的病例，该患者腹部出现搏动性肿块。影像学检查发现多个动脉瘤，包括一个53毫米的腹主动脉瘤（AAA）以及颅内动脉血管迂曲。基因检测发现转化生长因子β受体1发生突变，从而诊断为LDS。患者接受了AAA开放手术修复。对其他动脉病变进行了密切随访。该病例表明，AAA可能是LDS的主要表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d508/11669019/287ed24549e3/avd-17-440-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d508/11669019/94639ae966f9/avd-17-440-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d508/11669019/4f07f5412554/avd-17-440-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d508/11669019/287ed24549e3/avd-17-440-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d508/11669019/94639ae966f9/avd-17-440-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d508/11669019/4f07f5412554/avd-17-440-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d508/11669019/287ed24549e3/avd-17-440-g003.jpg

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本文引用的文献

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Aneurysm syndromes caused by mutations in the TGF-beta receptor.由转化生长因子-β受体突变引起的动脉瘤综合征
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.由TGFBR1或TGFBR2突变引起的心血管、颅面、神经认知和骨骼发育改变综合征。
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