View source for Cystic medial necrosis

{{Infobox_Disease |
  Name           = {{PAGENAME}} |
  Image          = |
  Caption        = |
  DiseasesDB     = 30073 |
  ICD10          = |
  ICD9           = {{ICD9|441.00}} |
  ICDO           = |
  OMIM           = 607086 |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID         = |
}}
{{SI}}

{{CMG}}

{{SK}} cystic medial degeneration; familial thoracic aortic aneurysm; familial aortic dissection; cystic medial necrosis of aorta <ref name=omim>{{OMIM|607086}}</ref>; it is sometimes called "Erdheim's cystic medial necrosis", after [[Jakob Erdheim]]<ref>{{WhoNamedIt|synd|2409}}</ref><ref>J. Erdheim. Medionecrosis aortae idiopathica (cystica). Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, 1929, 273: 454-479. </ref>; 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]] [[Dominance (genetics)|dominant]]<ref name=omim/> 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:

{| class="wikitable"
|-
! Type
! [[OMIM]]
! Gene
! Locus
|-
| AAT1
| {{OMIM2|607086}}
|
| 11q23.3-q24
|-
| AAT4
| {{OMIM2|132900}}
| ''[[MYH11]]''
| 16p
|-
| AAT6
| {{OMIM2|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.<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]].

==References==
{{Reflist|2}}

==See also==
* [[Aneurysm]]

[[Category:Disease]]
[[Category:Pathology]]
[[Category:Cardiology]]

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