Familial thoracic aortic aneurysm is an autosomal dominant[1] disorder of large arteries.
There is an association between familial thoracic aortic aneurysm and Marfan syndrome as well as other hereditary connective tissue disorders.
Signs and symptoms
A degenerative breakdown of collagen, elastin, and smooth muscle caused by aging contributes to weakening of the wall of the artery.[2]
In the aorta, this can result in the formation of a fusiform aneurysm. There is also increased risk of aortic dissection.[citation needed]
Genetics
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| AAT1 | 607086 | 11q23.3-q24 | |
| AAT4 | 132900 | MYH11 | 16p |
| AAT6 | 611788 | ACTA2 | 10q |
Diagnosis
Treatment
Terminology
It is sometimes called "Erdheim cystic medial necrosis of aorta", after Jakob Erdheim.[3][4]
The term "cystic medial degeneration" is sometimes used instead of "cystic medial necrosis", because necrosis is not always found.[citation needed]
References
- ^ a b Online Mendelian Inheritance in Man (OMIM): 607086
- ^ Wiesenfarth, John, http://www.emedicine.com/emerg/topic28.htm, October 4, 2005
- ^ synd/2409 at Who Named It?
- ^ J. Erdheim. Medionecrosis aortae idiopathica (cystica). Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, 1929, 273: 454-479.
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