Division of Cardiac Surgery, Thomas Jefferson University, Philadelphia, PA, USA.
Division of Vascular and Endovascular Surgery, Thomas Jefferson University, Philadelphia, PA, USA.
Vasc Endovascular Surg. 2025 Jan;59(1):93-96. doi: 10.1177/15385744241279139. Epub 2024 Aug 29.
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.
洛伊茨·戴茨综合征（LDS）是一种常染色体显性遗传性结缔组织疾病，由转化生长因子-β受体（TGFBR）家族基因突变引起。它通常与主动脉瘤和夹层的发展有关。我们报告了一例 Loeys-Dietz 综合征父女患者，他们在血管内修复失败后，成功地进行了开放式胸腹部动脉瘤手术治疗。女儿需要进行支架移植物取出，而父亲的支架移植物仍在体内。这些病例强调了在有强烈主动脉疾病家族史的患者和一级亲属中，即使缺乏典型的结缔组织疾病相关体格检查发现和开放式手术指标操作，也应进行早期基因检测的重要性。
