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
{"title":"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.","authors":"Joshua R Chen, Vishal N Shah, Christopher Pritting, Michael Nooromid, Babak Abai, Konstadinos Plestis","doi":"10.1177/15385744241279139","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94265,"journal":{"name":"Vascular and endovascular surgery","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome.\",\"authors\":\"Joshua R Chen, Vishal N Shah, Christopher Pritting, Michael Nooromid, Babak Abai, Konstadinos Plestis\",\"doi\":\"10.1177/15385744241279139\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":94265,\"journal\":{\"name\":\"Vascular and endovascular surgery\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Vascular and endovascular surgery\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/15385744241279139\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Vascular and endovascular surgery","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/15385744241279139","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/29 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信