The Marfan Foundation

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Familial Thoracic Aortic Aneurysm and Dissection

What is thoracic aortic aneurysm and dissection?

A thoracic aortic aneurysm is an enlargement of the aorta (the main blood vessel that carries blood away from the heart to the rest of the body) in the part of the body called the thoracic cavity (the chest area enclosed by the ribs and containing the lungs and heart). 

If the aneurysm is not surgically repaired, it can lead to aortic dissection (a sudden tear of the inner wall of the aorta that allows blood to flow between the aorta’s inner and outer walls).

Early detection and treatment are critical because both aortic aneurysms and dissections increase the risk that the aorta will suddenly burst (rupture), causing massive internal bleeding. Without surgery to prevent aortic rupture, these blood vessel abnormalities can be life- threatening.

What is familial thoracic aortic aneurysm and dissection?

About 20 percent of people with thoracic aortic aneurysm and dissection have a genetic predisposition to it, meaning it runs in the family. This type is known as familial thoracic aneurysm and dissection.

Many people don’t know they have a genetic predisposition to thoracic aortic aneurysm and dissection. First-degree relatives (i.e., parents, children, siblings) of individuals known to have thoracic aortic aneurysm should be screened for the condition.

What are the key features of familial thoracic aortic aneurysm and dissection?

Aortic enlargement (dilatation) is generally the first feature of familial thoracic aortic aneurysm and dissection to develop. People may develop aneurysms or aortic dissections at any time in their lives. Even within the same family, the occurrence and timing of these problems can vary.

What are the symptoms of familial thoracic aorta aneurysm and dissection?

Symptoms of aortic aneurysm may be related to the location, size and growth rate of the aneurysm and can include:

  • Pain in the chest, neck, and/or back
  • Swelling of the head, neck, and arms
  • Coughing, wheezing, or shortness of breath
  • Coughing up blood

Symptoms of aortic dissection usually appear suddenly and may include:

  • Severed, sudden, constant chest pain and/or upper back pain, sometimes described as “ripping” or “tearing”
  • Pain that feels like it is moving from one place to another
  • Unusually pale skin
  • Faint pulse
  • Numbness or tingling
  • Paralysis
  • In some instances, there may be no pain but a sense that there is something terribly “wrong.”

If a dissection is suspected, a person needs immediate medical attention and should go to a hospital emergency department right away.

To learn more about Familial Thoracic Aortic Aneurysm and Dissection and its diagnosis and treatment, download:

Familial Thoracic Aortic Aneurysm and Dissection