familial TAAD - Genetics Home Reference

What is familial TAAD?
Familial thoracic aortic aneurysm and dissection (familial TAAD) is a disorder that involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax).

In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers.

Aortic dilatation is generally the first feature of familial TAAD to develop, and it may appear in early childhood or later. People with familial TAAD may develop aneurysms or aortic dissections at any time during their life. The occurrence and timing of these abnormalities may vary even within the same family.

Aortic aneurysms typically have no symptoms. Aortic dissections usually cause severe, sudden chest pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias), or paralysis.

Both aortic aneurysms and dissections increase the risk that the aorta will suddenly tear open (rupture), causing massive internal bleeding. Without surgery to prevent aortic rupture, these blood vessel abnormalities can be life threatening.

Familial TAAD is usually not associated with other signs and symptoms. Occasionally, affected individuals may develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have congenital heart abnormalities, a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries).

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familial TAAD - Genetics Home Reference