Familial Thoracic Aortic Aneurysm and Dissection

Familial Thoracic Aortic Aneurysm and Dissection is a serious medical issue. 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).

As a result it is extremely serious, and 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).

It is very important to detect this occurrence early, and treatment is critical because both aortic aneurysms and dissections increase the risk that the aorta will suddenly burst (rupture), causing massive internal bleeding. This is a serious medical emergency, and without surgery to prevent aortic rupture, these blood vessel abnormalities can result in death.

Roughly 20 percent of people with thoracic aortic aneurysm and dissection have a genetic predisposition to it, which means it runs in the family. This type is known as Familial Thoracic Aortic Aneurysm and Dissection.

It is often the case that many people don’t know they have a genetic predisposition to thoracic aortic aneurysm and dissection. Immediate family relatives should also be tested if a parent, child or sibling has the condition.

Generally, aortic enlargement (dilatation) is the first feature of Familial Thoracic Aortic Aneurysm and Dissection to develop. A person may develop aneurysms or aortic dissections at any time in their life. Within the same family, the affects may vary.

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

– pain in the chest, neck, and/or back
– swelling of the head, neck and arms
– coughing, wheezing, shortness of breath
– coughing up blood

Symptoms of aortic dissection usually appear suddenly. Such may include:

– severe, 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

– sometimes there may be no pain, but a sense that there is something terribly “wrong.”

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