Familial thoracic aortic aneurysm

Familial thoracic aortic aneurysm
Classification and external resources
Micrograph showing cystic medial degeneration, the histologic correlate of familial thoracic aortic aneurysms. The image shows abundant basophilic ground substance in the tunica media (blue at top of image) and disruption of the elastic fibers. The tunica adventitia (yellow at bottom of image) with vaso vasorum is also seen. Movat's stain.
ICD-9	441.00
OMIM	607086
DiseasesDB	30073
eMedicine	emerg/28

Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial necrosis of aorta)^[1] 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.

Presentation

A degenerative breakdown of collagen, elastin, and smooth muscle caused by aging contribute 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.

Genetics

Types include:

Type	OMIM	Gene	Locus
AAT1	607086		11q23.3-q24
AAT4	132900	MYH11	16p
AAT6	611788	ACTA2	10q

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.

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.

See also

• Aneurysm

External links

• GeneReview/NCBI/NIH/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections
• 1449852953 at GPnotebook