Open AccessAortic root ectasia as a phenotypic feature of a mitochondrial disorder
Author(s) -
Finsterer Josef
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1652
Subject(s) - ectasia , medicine , phenotype , marfan syndrome , aortic aneurysm , aneurysm , feature (linguistics) , pathology , cardiology , radiology , biology , genetics , gene , linguistics , philosophy
Key Clinical Message 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 MID s; 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.