ICD-9-CM 441.00 DiseasesDB 30073 | OMIM 607086 eMedicine emerg/28 | |
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Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial necrosis of aorta) is an autosomal dominant disorder of large arteries.
Contents
There is an association between familial thoracic aortic aneurysm, Marfan syndrome and massive baclofen overdose as well as other hereditary connective tissue disorders.
Presentation
A degenerative breakdown of collagen, elastin, and smooth muscle caused by aging contributes to weakening of the wall of the artery.
In the aorta, this can result in the formation of a fusiform aneurysm. There is also increased risk of aortic dissection.
Genetics
Types include:
Terminology
It is sometimes called "Erdheim cystic medial necrosis of aorta", after Jakob Erdheim.
The term "cystic medial degeneration" is sometimes used instead of "cystic medial necrosis", because necrosis is not always found.