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Familial Thoracic Aortic Aneurysm and Dissection Syndrome

What is Familial Thoracic Aortic Aneurysm and Dissection syndrome?

Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) Syndrome is a recently described disorder involving the aorta, the large artery that carries blood from the heart. In FTAAD, defective genes can cause the aorta to be weakened. Weakening of the layers of the wall of the arteries leads to an increase in size.

Because FTAAD is recently described, it is uncertain how many people in the U.S. are affected by it. FTAAD occurs in equal numbers in males and females, and also appears equally in all races and ethnic groups.

What causes Familial Thoracic Aortic Aneurysm and Dissection syndrome?

Familial Thoracic Aortic Aneurysm and Dissection syndrome is caused by an abnormality (or mutation) in one of several different genes responsible for collagen production – these include MYH11, ACTA2, SMAD3, TGFBR1, TGFBR2, SLC2A10, and CBS.

The inheritance pattern of FTAAD is autosomal dominant. This means that each offspring of an affected parent will have a 50% chance of also being born with the disorder. Similarly, when a child is born with Loeys-Dietz syndrome to unaffected parents, the child will have a 50% risk of passing the gene on to the next generation.

Why is Familial Thoracic Aortic Aneurysm and Dissection syndrome a concern?

Children with FTAAD syndrome are at risk for serious problems, including the following:

  • Aortic dissection. The layers of the aorta separate. Aortic dissection in FTAAD can be spontaneous, without warning. This may result in severe heart attack, stroke, or death.
  • Aortic rupture. A break in the wall of the aorta. The wall of the aorta breaks and blood leaks into the surrounding tissues. As with aortic dissection, an aortic rupture may cause a heart attack or stroke; however, aortic rupture usually results in death.

What are the symptoms of Familial Thoracic Aortic Aneurysm and Dissection syndrome?

Patients with FTAAD often do not have any symptoms. They usually come to medical attention when a family member is diagnosed with the problem. Occasionally, symptoms may be present and may include:

Heart and Blood vessels

  • Tears in the aorta (aortic rupture)
  • Separation of the layers of the wall of the aorta (dissection)
  • Valve leakage (aortic regurgitation)

The symptoms of FTAAD syndrome may resemble other problems or medical conditions. Always consult your child's health care provider for a diagnosis.

How is Familial Thoracic Aortic Aneurysm and Dissection syndrome diagnosed?

In addition to a complete medical history and physical examination, your child's health care provider may complete a family medical history to look for other family members with known FTAAD or some of the characteristics of the disease.

Other diagnostic tests for FTAAD syndrome may include the following:

  • Electrocardiogram (ECG or EKG). A test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle damage.
  • Echocardiography (echo). A procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.
  • Magnetic Resonance Imaging (MRI). A procedure that evaluates the structure of the arteries of the body using high-powered magnets to produce pictures of the vessels, as well as the heart.
  • DNA studies. A blood sample sent to the genetics lab can be analyzed to determine whether a mutation in one of the collagen genes is present.

In order to be diagnosed with FTAAD, your child may need DNA studies. Your child's health care provider will make the diagnosis based on medical and family history and other factors, as well as symptoms your child may exhibit.

Treatment for Familial Thoracic Aortic Aneurysm and Dissection syndrome

Specific treatment for FTAAD will be determined by your child's health care provider based on:

  • Your child's age, overall health, and medical history
  • Family history of FTAAD
  • Your child's tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the disease
  • Your opinion or preference

At the present time, there is no cure for the disorder. Treatment is based on determining how the aorta is affected and managing the problems that arise. Recommendations for managing FTAAD may include the following:

  • An annual echocardiogram, or echo (to monitor the heart and aorta)
  • Regularly scheduled MRI
  • Lifestyle adjustments (to reduce the risk of injury to the aorta, such as avoiding contact sports or stressful exercise)
  • Medication to decrease the blood pressure

Genetic counseling is important for people who have FTAAD and are planning to have a family. If one parent has the disorder, there is a 50% chance, with each pregnancy, for a child to also have FTAAD. In addition, women with FTAAD who become pregnant have significant risks for their health during pregnancy, due to the added stress that a pregnancy puts on the aorta. Women with FTAAD should consult with their health care providers before pregnancy to determine if pregnancy is safe for them.

Long-term outlook for a child with Familial Thoracic Aortic Aneurysm and Dissection syndrome

Aortic dissection and rupture pose the largest threat to a person with FTAAD, which emphasizes the importance of regular evaluation by your child's health care provider. Consult your child's health care provider for more information regarding the specific outlook for your child.

Because FTAAD syndrome is a newly recognized disorder, long-term survival information is not available. It is known that approximately 20% of patients with aortic dissection have a diagnosis of FTAAD. With advances in the diagnosis, evaluation, and management of the aortic complications of FTAAD, the life expectancy for a person with the disease is increasing. Ongoing research will provide more accurate estimates of life expectancy.

For women with FTAAD, pregnancy and childbirth pose significant risks. These women should be evaluated with echocardiography and MRI prior to becoming pregnant. Cesarean delivery (C-section) is generally recommended for pregnant women with FTAAD to prevent strain on the aorta and decrease the risk of aortic dissection during labor. Some women will need to undergo aortic surgery before attempting to become pregnant.


Online Medical Reviewer:
Last Review Date: 01/01/0001
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