The aorta is the main artery in the human body. It carries oxygenated blood from the heart through the rest of the body via the circulatory system. Problems with the aorta, such as aortic disease and Marfan Syndrome, can cause the aorta to widen or tear and require a team of specialists and surgeons to develop an effective treatment plan.
Disease in the aorta can cause a rupture via dissection (splitting of the aorta) or aneurysm (dilation of the aorta). Both cases are serious and can be fatal if not treated properly.
There are three types of aortic aneurysms:
- Abdominal aortic aneurysms, which occur in the abdominal region
- Thoracic aneurysms, which occur in the chest
- Thoracic abdominal aneurysms, which occur in both the chest and abdominal region
Many conditions, such as high blood pressure, connective tissue disorders, or hardened arteries (atherosclerosis), can damage the aorta and increase the risk of aortic disease.
Marfan syndrome is a genetic disorder affecting the body’s connective tissue. Connective tissue is the tough tissue that holds the body’s organs together, providing both support and elasticity. This connective tissue is made of proteins, one of which is called fibrillin. In Marfan Syndrome, there is a mutation in the gene responsible for the generation of fibrillin, resulting in increased levels of another protein, transforming growth factor beta (TFG-β), that leads to the problems in the connective tissue. Marfan syndrome can affect the connective tissue in any part of the body, but it most commonly affects the heart and blood vessels, bones, joints, and eyes.
The most dangerous complications of Marfan syndrome are in the heart and lungs, including aortic enlargement. This widening or dilation weakens the wall of the aorta and may cause it to leak, which can be very serious. About 50% of people with Marfan syndrome develop aortic enlargement at birth or as a child, while 60% to 80% will experience widening of the aorta later in life.
Diagnosis of Marfan syndrome is based results of a diagnostic test paired with symptoms and family history, as there is a 50% chance to pass the syndrome to a child. While there is currently no cure for Marfan syndrome, most people with the syndrome live into their 70s.