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Familial aortic disease is a medical condition that runs in families. It often causes an aneurysm [AN-yur-ism] to form in the aorta [ay-OR-tuh], the largest blood vessel in the body. An aneurysm is a bulging, weak spot in the aorta.
The aorta is the main blood supply to the body. It is shaped like a cane with an arch at the top and runs from the top of the heart through the chest and belly before splitting into two branches that run into the legs. It is about the same diameter as a garden hose. The top, or arch, is called the ascending aorta. The descending, or thoracic [thaw-RAS-ik] area of the aorta runs from the bottom of the arch to the upper belly. The abdominal aorta is the part of the aorta that runs through the belly before it splits to become the iliac [IL-ee-ak] arteries.
An aortic dissection [dy-SEK-shuhn] is when the weak spot ruptures and blood begins to flow between the inner and outer layers of the aortic wall. Aortic dissection is a life-threatening condition that can reduce blood flow to the organs in your body and cause a complete rupture of the aorta, resulting in extreme blood loss and death.
Familial aneurysms can be found in all three areas of the aorta. When found in the ascending aorta, they are called aortic root aneurysms. This is because the area is near to the aortic valve, which connects the aorta to the heart. When found in the thoracic aorta, the condition is called TAA (thoracic aortic aneurysm). When found in the abdomen (belly) it is called AAA (abdominal aortic aneurysm). Here are some additional facts about familial aortic disease:
Familial aortic disease is rare, and only accounts for 20% of aortic disease. Most aortic disease is caused by atherosclerosis [ath-er-oh-skleh-ROH-sis] (hardening of the arteries) and hypertension [hy-per-TEN-shuhn] (chronic high blood pressure).
Most people don’t notice any symptoms, which is why aneurysms can grow large without being noticed. The symptoms most commonly reported include:
Symptoms of a dissected aneurysm include:
See a doctor right away if you have any of the symptoms listed above.
CALL 911 if you or a family member are having symptoms that suggest an aortic dissection. Don’t wait! This is an extremely urgent situation.
If you have a family history of aortic aneurysm, make an appointment to talk with your doctor. You may want to consider imaging tests to screen for an aneurysm. If an aneurysm is found, then you and your doctor can make a plan to manage your condition and keep your aneurysm from getting any bigger.
Most aneurysms are located by accident or as the result of a dissection. To see if you have an aneurysm, or to see how fast it is growing, your doctor may recommend the following imaging tests:
If you are taking part in a genetic study for familial aortic disease, you may be asked to have blood tests or a biopsy to check for the presence or absence of specific genes in your body.
Treatment for an aneurysm depends on the size, severity, and cause of the aneurysm. The goal is to keep the aneurysm from growing. Vascular disease experts recommend the following:
Because surgery to repair an aneurysm comes with higher risks, it is not usually recommended until your aneurysm is larger than 5.5 cm (2 inches) across or enlarging at a rate of 1 cm per year. The following surgical techniques are used to repair an aneurysm:
Your doctor will help you decide which procedure is best for you based on your age, your overall health, and the stability of your aneurysm, among other things.
There isn’t any way to prevent familial aortic disease. However, you may be able to keep an aneurysm from growing larger by following a heart-healthy lifestyle that includes: