Familial Aortic Disease

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:

• Roughly 2 in 10 aneurysms are linked to a family history of aortic disease.
• Nearly two-thirds of familial aortic aneurysms are TAAs.
• Familial aortic disease can also cause early coronary artery disease, brain bleeds (stroke), and aneurysms in the peripheral arteries (arms and legs).
• TAAs and aortic root aneurysms may be associated with other inherited conditions, such as Marfan syndrome or Loeys-Dietz syndrome.
• In the U.S., ruptured aneurysms are responsible for about 30,000 deaths each year.

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:

• Pulsing sensation in the abdomen (AAA)
• Pain in the jaw, neck, back, or chest (TAA)

Symptoms of a dissected aneurysm include:

• Sharp pain in the back or chest
• Numbness or tingling in the arms or legs
• Pale, clammy skin
• Fast heart rate

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.

Doctors believe that changes (mutations) in a person’s genes cause familial aortic disease. Genes are the specific instructions for each cell in the body. They are responsible for everything your body does. Some mutations in your genes can cause changes in the elasticity (stretchiness) of the arterial walls. Others may interrupt signals or speed up the breakdown of certain proteins, causing weakness in the aortic wall.

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:

• Ultrasound. This test uses high-speed sound waves to create images of the aorta and arteries as blood is flowing through them. It can show if there are wide spots that need to be monitored or examined further.
• CT (computed tomography) scan. This test uses x-rays to make detailed images of your aorta and the surrounding area. It can help your doctor see the size and severity of your aneurysm.

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:

• Watching and waiting. This is appropriate for most aneurysms that are less than 3.5 centimeters (cm) as they generally have a low risk of rupture. You may be able to avoid a rupture by keeping your blood pressure under control with medicine, diet changes, and exercise, and possibly taking statin medicines to help maintain a healthy cholesterol level. Imaging tests may be needed every 2 to 3 years to see if there are any changes in the size or shape of your aneurysm.

• Increased testing. As an aneurysm grows larger, it is more likely to rupture. However, this process can take many years in people who are otherwise healthy. Your doctor may recommend imaging tests every 6 to 12 months if:
  • Your aneurysm grew more than 1 cm between previous tests or is larger than 3.5 cm
  • You have changes in your symptoms
  • You have changes in your overall health and risk

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:

• Open abdominal surgery is when the surgeon makes a large incision (cut) to reach the aneurysm. The weak area of the aorta is reinforced with a stent graft. A graft is a tube of man-made surgical material that is sewn to the aorta to surround and strengthen the weak spot. An emergency repair is almost always done this way.
• Endovascular aneurysm repair (EVAR or TEVAR) is when the surgeon inserts catheters (thin, flexible tubes) into an artery in your leg, arm, or neck and moves them to the aneurysm. The catheters are used to place a tube called a stent graft into the aorta. The stent graft “lines” the aorta like an inner sleeve, and stays in place after the procedure.

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:

• Eating lots of fresh fruits and vegetables
• Choosing chicken and fish over red meats and processed meat products, such as cold cuts
• Avoiding sitting for more than 2 hours at a time
• Getting 30 to 60 minutes of moderate-to-vigorous exercise on most days of the week
• Limiting alcohol, which can raise blood pressure

National Library of Medicine

National Library of Medicine

Genetic and Rare Diseases Information Center

Familial aortic disease is a medical condition that runs in families. It can cause an aneurysm [AN-yur-ism] to form in the aorta.The aorta [ay-OR-tuh] is the largest blood vessel in the body. An aneurysm is a bulging, weak spot in the aorta. An aortic dissection [dy-SEK-shuhn] is when the weak spot ruptures (breaks open) 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/or cause a complete rupture of the aorta.