Nevidomskyte Daiva, Shalhub Sherene, Aldea Gabriel S, Byers Peter H, Schwarze Ulrike, Murray Mitzi L, Starnes Benjamin
Department of Surgery, Division of Vascular Surgery, University of Washington, Seattle, WA.
Department of Surgery, Division of Vascular Surgery, University of Washington, Seattle, WA.
Ann Vasc Surg. 2017 May;41:283.e5-283.e9. doi: 10.1016/j.avsg.2016.10.048. Epub 2017 Mar 8.
True aneurysms of the internal mammary artery are rare and have been described in association with vasculitis or connective tissue disorders. Herein, we describe 2 cases of familial internal mammary artery aneurysms (IMAs) in 2 sisters with SMAD3 mutation. The older sister presented at the age of 54 years with an incidental diagnosis of a multilobed right IMA and the younger sister presented several years earlier with a ruptured left IMA aneurysm at the age of 49 years. Both sisters had Debakey type I aortic dissections prior to the IMA aneurysm presentation. To our knowledge, this is the first time IMA aneurysms have been described in siblings with SMAD3 mutation. In our experience, endovascular repair is a feasible and safe treatment option. An assessment of the entire arterial tree is recommended in patients diagnosed with SMAD3 mutations.
乳房内动脉真性动脉瘤罕见，文献报道其与血管炎或结缔组织病相关。在此，我们描述了2例患有SMAD3突变的姐妹发生家族性乳房内动脉（IMA）瘤的病例。姐姐54岁时偶然诊断出右IMA呈多叶状，妹妹49岁时因左IMA动脉瘤破裂，发病时间比姐姐早几年。在出现IMA动脉瘤之前，两姐妹均患有I型主动脉夹层。据我们所知，这是首次在患有SMAD3突变的兄弟姐妹中描述IMA动脉瘤。根据我们的经验，血管内修复是一种可行且安全的治疗选择。对于诊断为SMAD3突变的患者，建议对整个动脉树进行评估。
