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

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.

SUBMITTER: Finsterer J 

PROVIDER: S-EPMC6099020 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature