Aortic root ectasia as a phenotypic feature of a mitochondrial disorder.

主动脉根扩张是线粒体疾病的表型特征。

• 发表时间: Aug 2018
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.1652
• PMID: 30147891
• 文章类型: Case Reports
• 作者列表: Finsterer J

关键词: aorta; metabolic defect; mitochondrial disorder; multisystem disorder; oxidative phosphorylation; vascular smooth muscle cells

Abstract

Mitochondrial disorder (MID) can be suspected upon application of the mitochondrial multiorgan disorder syndrome score; aortic root ectasia (ARE) can be a phenotypic feature of MIDs; ARE in a MID may result from affection of vascular smooth muscle cells by the metabolic defect; ARE requires long-term follow-up not to miss the point at which ARE transforms to an aneurysm requiring vascular surgery.

摘要

应用线粒体多器官疾病综合征评分可怀疑线粒体疾病（MID）；主动脉根扩张（ARE）可能是MID的表型特征；MID中的ARE可能是由于代谢缺陷对血管平滑肌细胞的影响；ARE需要长期随访，以免错过ARE转变为需要血管手术的动脉瘤的点。