Verbert A, Verbist J, Peeters P, Deferm H, Haenen L
Department of Cardiovascular and Thoracic Surgery, Imelda Hospital, Bonheiden, Belgium.
Acta Chir Belg. 2013 Sep-Oct;113(5):367-72.
We report a case of a spontaneous rupture of a right subclavian aneurysm in a 15 year-old patient. This ruptured aneurysm was successfully treated in an endovascular manner by placing a covered stent-graft in the right subclavian artery via right brachial access. Subsequent work-up by skin biopsy and fibroblast culture and by DNA-screening revealed the diagnosis of Ehlers Danlos type IV. Meanwhile, the patient developed twice a spontaneous pneumothorax, treated with thoracoscopic pleurodesis. This article provides a clear overview of the clinical and genetic characteristics of a case of Ehlers Danlos type IV and illustrates the importance of avoiding surgery in patients with connective tissue disease because of the high risk of perioperative complications.
我们报告了一例15岁患者右锁骨下动脉瘤自发性破裂的病例。通过经右肱动脉途径在右锁骨下动脉置入覆膜支架移植物,以血管内方式成功治疗了这个破裂的动脉瘤。随后通过皮肤活检、成纤维细胞培养和DNA筛查进行的检查揭示了IV型埃勒斯-当洛综合征的诊断。与此同时,该患者两次发生自发性气胸,均接受了胸腔镜胸膜固定术治疗。本文清晰概述了一例IV型埃勒斯-当洛综合征的临床和遗传特征,并说明了由于围手术期并发症风险高,结缔组织病患者避免手术的重要性。