Familial thoracic aortic aneurysm (also referred to as
familial aortic dissection or
cystic medial necrosis of aorta) is an autosomal dominant disorder of large arteries.
A degenerative breakdown of
collagenCollagen is the main protein of connective tissue in animals and the most abundant protein in mammals, making up about 25% to 35% of the whole-body protein content. It is naturally found exclusively in metazoa, including sponges. In muscle tissue it serves as a major component of endomysium...
,
elastinElastin is a protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched...
, and
smooth muscleSmooth muscle is an involuntary non-striated muscle, found within the tunica media layer of large and small arteries and veins, the bladder, uterus, male and female reproductive tracts, gastrointestinal tract, respiratory tract, arrector pili of skin, the ciliary muscle, and iris of...
caused by aging contribute to weakening of the wall of the artery.
In the aorta, this can result in the formation of a fusiform
aneurysmAn aneurysm or aneurism , is a localized, blood-filled dilation of a blood vessel caused by disease or weakening of the vessel wall....
.
Discussion
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Familial thoracic aortic aneurysm (also referred to as
familial aortic dissection or
cystic medial necrosis of aorta) is an autosomal dominant disorder of large arteries.
A degenerative breakdown of
collagenCollagen is the main protein of connective tissue in animals and the most abundant protein in mammals, making up about 25% to 35% of the whole-body protein content. It is naturally found exclusively in metazoa, including sponges. In muscle tissue it serves as a major component of endomysium...
,
elastinElastin is a protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched...
, and
smooth muscleSmooth muscle is an involuntary non-striated muscle, found within the tunica media layer of large and small arteries and veins, the bladder, uterus, male and female reproductive tracts, gastrointestinal tract, respiratory tract, arrector pili of skin, the ciliary muscle, and iris of...
caused by aging contribute to weakening of the wall of the artery.
In the aorta, this can result in the formation of a fusiform
aneurysmAn aneurysm or aneurism , is a localized, blood-filled dilation of a blood vessel caused by disease or weakening of the vessel wall....
. There is also increased risk of
aortic dissectionAortic dissection is a tear in the wall of the aorta that causes blood to flow between the layers of the wall of the aorta and force the layers apart. Aortic dissection is a medical emergency and can quickly lead to death, even with optimal treatment. If the dissection tears the aorta completely...
.
There is an association between familial thoracic aortic aneurysm and
Marfan syndromeMarfan syndrome is a genetic disorder of the connective tissue.It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected...
as well as other hereditary connective tissue disorders.
Terminology
It is sometimes called "Erdheim cystic medial necrosis of aorta", after
Jakob ErdheimJakob Erdheim was a pathologist.He is credited with the characterization of Erdheim–Chester disease and cystic medial necrosis....
.
The term "cystic medial degeneration" is sometimes used instead of "cystic medial necrosis", because
necrosisNecrosis is the premature death of cells and living tissue. Necrosis is caused by external factors, such as infection, toxins , or trauma. This is in contrast to apoptosis, which is a naturally occurring cause of cellular death...
is not always found.