有其父必有其女:一个 Loeys-Dietz 综合征家庭的胸腹动脉瘤手术重做修补术》(Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome.

Vascular and endovascular surgery Pub Date : 2025-01-01 Epub Date: 2024-08-29 DOI:10.1177/15385744241279139
Joshua R Chen, Vishal N Shah, Christopher Pritting, Michael Nooromid, Babak Abai, Konstadinos Plestis
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引用次数: 0

摘要

洛伊-迪茨综合征(Loeys Dietz Syndrome,LDS)是一种常染色体显性结缔组织疾病,由转化生长因子 beta 受体(TGFBR)家族基因突变引起。它通常与主动脉瘤和主动脉夹层的发生有关。我们报告了一对患有 Loeys-Dietz 综合征的父女在血管内修复失败后,通过开腹手术成功治疗了胸腹动脉瘤。女儿需要切除支架移植物,而支架移植物仍留在父亲体内。这些病例凸显了对有严重主动脉疾病史的患者和一级亲属进行早期基因检测的重要性,即使缺乏典型的结缔组织病相关体检结果和开放性手术指征。
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Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome.

Loeys Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder resulting from a mutation in the transforming growth factor beta receptor (TGFBR) family of genes. It is commonly associated with the development of aortic aneurysms and dissections. We report the successful open surgical management of thoracoabdominal aneurysms in a father and daughter with Loeys-Dietz Syndrome after failed endovascular repair. The daughter required stent graft explantation, while the stent graft remained in the father. These cases highlight the importance of early genetic testing of both patients and first-degree family members in those with a strong history of aortic disease, even when there is a lack of typical connective tissue disorder associated physical exam findings and open surgical index operations.

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