Cystic medial necrosis
| 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 an autosomal dominant[1] 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.
In the aorta,this can result in the formation of a fusiform aneurysm.
Pathology
Genetics
Genetic variants include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| AAT1 | 607086 | 11q23.3-q24 | |
| AAT4 | 132900 | MYH11 | 16p |
| AAT6 | 611788 | ACTA2 | 10q |
Associated Conditions
There is an association between cystic medial necrosis and Marfan syndrome.
Natural History, Complications, and Prognosis
Cystic medial necrosis is associated with an increased risk of aortic dissection.
Presentation
A degenerative breakdown of collagen, elastin, and smooth muscle caused by aging contributes 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.
References
- ↑ 1.0 1.1 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