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Familial thoracic aortic aneurysm

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:

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

  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 607086
  2. ^ Wiesenfarth, John, http://www.emedicine.com/emerg/topic28.htm, October 4, 2005
  3. ^ synd/2409 at Who Named It?
  4. ^ J. Erdheim. Medionecrosis aortae idiopathica (cystica). Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, 1929, 273: 454-479.

External links