Aortic root ectasia as a phenotypic feature of a mitochondrial disorder | Zendy

Finsterer Josef | Zendy

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Aortic 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.

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