Akutsu Koichi, Ozaki Kensuke, Oshima Susumu, Sakurai Shigeru, Hirokami Tomohiro, Hirai Yuki, Okiyama Makoto, Kishinami Goro, Ishiko Kazumasa, Yamaguchi Ko, Yamamoto Shin
Department of Aortic Surgery, Kawasaki Aortic Center, Kawasaki Saiwai Hospital, Kawasaki, Japan.
Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan.
J Cardiol Cases. 2024 Mar 25;30(1):16-19. doi: 10.1016/j.jccase.2024.03.002. eCollection 2024 Jul.
We report a case of a 63-year-old woman diagnosed with vascular Ehlers-Danlos syndrome (vEDS) who survived two prophylactic surgeries for the dilatation of a thoracoabdominal aortic aneurysm. She initially developed acute type B aortic dissection at the age of 44 years. Five years later, her dissected descending aorta was enlarged to 54 mm; thus, the descending aorta was replaced as the first surgery. Fortunately, the intra- and post-operative courses were uneventful. Fourteen years post her first surgery, the dissected thoracoabdominal aorta distal to the graft expanded to 53 mm; however, no anastomotic leakage was observed. Genetic testing revealed a COL3A1 abnormality, confirming the diagnosis of vEDS. Thoracoabdominal aorta replacement using deep hypothermia circulatory arrest was performed because of the high risk of aortic aneurysm rupture. The second surgery was performed without complications, and no complications were observed 13 months post-surgery. The major reason for a successful surgery in this patient was the relatively low vascular fragility associated with vEDS. This case demonstrates that there may be considerable individual differences in vascular fragility in patients with vEDS. Thus, surgical repair, along with endovascular therapy, might still be a beneficial option for patients with vEDS having large aortic aneurysms and a high risk of rupture.
Prophylactic surgery for vascular lesions in Ehlers-Danlos syndrome (vEDS) is generally not recommended because of its high vascular fragility. However, if a patient with vEDS has an aortic aneurysm that is at a very high risk of rupture, aggressive treatment is a plausible option as there may be considerable individual differences in vascular fragility among patients with vEDS.
我们报告一例63岁女性，被诊断为血管型埃勒斯-当洛综合征（vEDS），她在接受了两次针对胸腹主动脉瘤扩张的预防性手术中存活下来。她最初在44岁时发生急性B型主动脉夹层。五年后，她的夹层降主动脉扩大到54毫米；因此，作为第一次手术，降主动脉被替换。幸运的是，术中和术后过程均顺利。在她第一次手术后14年，移植血管远端的夹层胸腹主动脉扩大到53毫米；然而，未观察到吻合口漏。基因检测显示COL3A1异常，证实了vEDS的诊断。由于主动脉瘤破裂风险高，采用深低温循环停搏进行胸腹主动脉置换。第二次手术顺利完成，术后13个月未观察到并发症。该患者手术成功的主要原因是与vEDS相关的血管脆性相对较低。该病例表明，vEDS患者的血管脆性可能存在相当大的个体差异。因此，对于患有大主动脉瘤且破裂风险高的vEDS患者，手术修复以及血管内治疗可能仍是有益的选择。
由于血管脆性高，一般不建议对埃勒斯-当洛综合征（vEDS）的血管病变进行预防性手术。然而，如果vEDS患者的主动脉瘤破裂风险非常高，积极治疗是一个合理的选择，因为vEDS患者之间的血管脆性可能存在相当大的个体差异。
