Familial thoracic aortic aneurysm

Familial thoracic aortic aneurysm

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.
Classification and external resources
ICD-9-CM	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, Marfan syndrome and massive baclofen overdose as well as other hereditary connective tissue disorders.

Presentation

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.

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

External links

Cardiovascular disease (vessels) (I70–I99, 440–456)

Arteries, arterioles
and capillaries

Inflammation

Peripheral artery disease

Arteriosclerosis	Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat

Stenosis	Carotid artery stenosis Renal artery stenosis

Other	Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon

Aneurysm / dissection /
pseudoaneurysm

Vascular malformation

Vascular nevus

Veins

Inflammation	Phlebitis

Venous thrombosis / Thrombophlebitis	primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome

Varicose veins	Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele

Other	Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer

Arteries or veins

Blood pressure

Hypertension	Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension

Hypotension	Orthostatic hypotension

This article is issued from Wikipedia - version of the 10/14/2014. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.