Olson Sydney L, Murray Mitzi L, Skeik Nedaa
Minneapolis Heart Institute, Minneapolis, MN.
GeneDx, Inc., Gaithersburg, MD.
Ann Vasc Surg. 2019 Nov;61:472.e9-472.e13. doi: 10.1016/j.avsg.2019.05.057. Epub 2019 Aug 5.
Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders with distinct genetic etiologies. Of the 13 currently recognized types of EDS, the vascular type EDS (vEDS) is generally considered the most severe and is associated with a decreased life expectancy due to spontaneous arterial, intestinal, and or uterine rupture. Diagnosis of vEDS is supported by genetic testing confirming the presence of pathogenic variations in COL3A1, a type III procollagen gene. Management of vEDS is usually conservative with control of hemodynamic stress, frequent cardiovascular imaging, and, if indicated, a thoughtful endovascular intervention or surgical repair. We present a novel frameshift variant in COL3A1 leading to vEDS with multiple vascular involvements. Based on our literature review, this variant has not been reported and may result in a less severe form of vEDS. Our case report provides insight into genetic variants and clinical expression of vEDS.
埃勒斯-当洛综合征（EDS）是一组具有不同遗传病因的遗传性结缔组织疾病。在目前公认的13种EDS类型中，血管型EDS（vEDS）通常被认为是最严重的，并且由于自发性动脉、肠道和/或子宫破裂而导致预期寿命缩短。vEDS的诊断通过基因检测得到支持，该检测证实了III型前胶原基因COL3A1中存在致病性变异。vEDS的管理通常是保守的，包括控制血流动力学应激、频繁进行心血管成像，以及在必要时进行谨慎的血管内介入或手术修复。我们报告了COL3A1基因中的一种新型移码变异，该变异导致了伴有多血管受累的vEDS。根据我们的文献综述，这种变异尚未见报道，可能导致一种症状较轻的vEDS形式。我们的病例报告为vEDS的基因变异和临床表型提供了见解。
