Cystic medial necrosis: Difference between revisions
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There is an association between cystic medial necrosis and [[Marfan syndrome]]. | There is an association between cystic medial necrosis and [[Marfan syndrome]]. | ||
==Presentation== | |||
A degenerative breakdown of [[collagen]], [[elastin]], and [[smooth muscle]] caused by aging contributes to weakening of the wall of the artery.<ref>Wiesenfarth, John, http://www.emedicine.com/emerg/topic28.htm, October 4, 2005</ref> | |||
In the aorta, this can result in the formation of a fusiform [[aneurysm]]. There is also increased risk of [[aortic dissection]]. | |||
==Genetics== | |||
Types include: | |||
{| class="wikitable" | |||
|- | |||
! Type | |||
! [[OMIM]] | |||
! Gene | |||
! Locus | |||
|- | |||
| AAT1 | |||
| {{OMIM2|607086}} | |||
| | |||
| 11q23.3-q24 | |||
|- | |||
| AAT4 | |||
| {{OMIM2|132900}} | |||
| ''[[MYH11]]'' | |||
| 16p | |||
|- | |||
| AAT6 | |||
| {{OMIM2|611788}} | |||
| ''[[ACTA2]]'' | |||
| 10q | |||
|} | |||
==References== | ==References== | ||
Revision as of 18:58, 21 October 2012
| Cystic medial necrosis | |
| ICD-9 | 441.00 |
|---|---|
| OMIM | 607086 |
| DiseasesDB | 30073 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: cystic medial degeneration; familial thoracic aortic aneurysm; familial aortic dissection; cystic medial necrosis of aorta [1]; it is sometimes called "Erdheim's cystic medial necrosis", after Jakob Erdheim[2][3]; the term cystic medial degeneration is sometimes used instead of cystic medial necrosis, because necrosis is not always found
Overview
Cystic medial necrosis is a disorder of large arteries. A degenerative breakdown of collagen, elastin, and smooth muscle caused by aging contribute to weakening of the wall of the artery.[4]
In the aorta,this can result in the formation of a fusiform aneurysm. There is also increased risk of aortic dissection.
There is an association between cystic medial necrosis and Marfan syndrome.
Presentation
A degenerative breakdown of collagen, elastin, and smooth muscle caused by aging contributes to weakening of the wall of the artery.[5]
In the aorta, this can result in the formation of a fusiform aneurysm. There is also increased risk of aortic dissection.
Genetics
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| AAT1 | 607086 | 11q23.3-q24 | |
| AAT4 | 132900 | MYH11 | 16p |
| AAT6 | 611788 | ACTA2 | 10q |
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 607086
- ↑ Template:WhoNamedIt
- ↑ J. Erdheim. Medionecrosis aortae idiopathica (cystica). Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, 1929, 273: 454-479.
- ↑ Wiesenfarth, John, http://www.emedicine.com/emerg/topic28.htm, October 4, 2005
- ↑ Wiesenfarth, John, http://www.emedicine.com/emerg/topic28.htm, October 4, 2005