Familial Thoracic Aortic Aneurysm and Dissection (FTAAD)

Familial thoracic aortic aneurysm and dissection (FTAAD) is a condition that affects the aorta. The aorta is the body’s main and largest artery; it carries blood from the heart to the rest of the body. People who have FTAAD are at risk of developing aneurysms (a bulge or widening) in the aorta in the chest (thoracic) area. An aneurysm, in turn, increases the risk of a life-threatening tearing and bleeding onto the layers in the aortic wall (a dissection).

The term “familial” in FTAAD means the condition has occurred in several family members because of a change in the DNA being inherited or passed down through generations. FTAAD can also be called hereditary thoracic aortic aneurysm and dissection (HTAAD) or heritable thoracic aortic disease (HTAD).

Most often, an aneurysm does not cause any noticeable symptoms. In these cases, an aortic aneurysm may only be discovered after an individual has imaging of their aorta. However, in some advanced cases, symptoms such as chest or back pain, shortness of breath, or trouble swallowing can occur. FTAAD can affect people of all ages, from childhood to adulthood.

Sometimes, aortic aneurysms can be seen along with other cardiovascular features, including bicuspid aortic valve, arterial tortuosity (twisting/winding arteries), or other structural changes in the heart. Additionally, aortic aneurysms can occur in the context of a genetic syndrome that affects areas outside of the cardiovascular system, such as Marfan syndrome or Loeys-Dietz syndrome. But not all individuals with aortic aneurysms have a syndrome; their aneurysm may be an isolated occurrence and not associated with other features.

FTAAD is caused by changes in an individual’s genetic material, or DNA. These changes (sometimes called mutations or variants) occur in regions of DNA called genes. There are many genes which are associated with FTAAD. Having a genetic change can increase the risk to develop an aortic aneurysm, but not all individuals who carry an FTAAD genetic change will develop aortic aneurysms. Additionally, some families with FTAAD will have normal genetic test results. This does not exclude a genetic cause for their condition; rather, it simply means that the genetic cause could not be identified. Most commonly, when an individual has FTAAD, they have a 50% chance to pass on the genetic change to each child they have.

Aortic aneurysms are diagnosed through cardiac imaging procedures such as an echocardiogram, cardiac magnetic resonance imaging (MRI), or cardiac computed tomography (CT).

Following a diagnosis of FTAAD, your doctor may recommend genetic testing, which can provide more information about the condition. Genetic testing is performed through a simple blood or cheek swab test. If your provider recommends genetic testing, genetic counselors can walk you through the process of testing, determine the most appropriate test, and discuss the advantages and limitations of testing. The clinicians and genetic counselors at Boston Children’s Center for Cardiovascular Genetics have extensive expertise in diagnosing and managing FTAAD as well as guiding families through the genetic testing process.

Treatment plans for FTAAD may include monitoring the condition over time, medication, or surgical intervention. You or your child’s treatment plan can depend on several factors, including genetic makeup, family history, and the progression and severity of the disease. The team at the Center for Cardiovascular Genetics can work with you or your child to determine what is the best treatment plan based on these factors.

At the Center for Cardiovascular Genetics, we aim to provide comprehensive care to individuals and family members who have FTAAD. Depending on your or your child’s needs, you may be referred to see several members of our multidisciplinary team: cardiologists, geneticists, nurse practitioners, genetic counselors, or a cardiovascular psychologist. It is a priority for us to help you understand your condition and provide comprehensive information on key aspects of care, such as prognosis, treatment plans, and family planning.