This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Familial thoracic aortic aneurysm and aortic dissection (Familial TAAD) is a rare condition that affects the aorta (the large blood vessel that distributes blood from the heart to the rest of the body). In people affected by this condition, the thoracic aorta (the upper part of the aorta, near the heart) may become weakened, stretched and/or enlarged. This can lead to a sudden tear of the inner wall of the aorta that allows blood to flow between the aorta’s inner and outer walls (also called a dissection). These aortic abnormalities can be life-threatening as they can decrease blood flow to other parts of the body and/or cause the aorta to rupture. The onset of the condition varies significantly from person to person, even within the same family. Familial TAAD can be caused by changes (mutations) in several different genes and is inherited in an autosomal dominant manner. Treatment is generally based on the signs and symptoms present in each person and may include medications to reduce stress on the aorta and surgery to repair aortic abnormalities. Surveillance is generally recommended for at-risk relatives.
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