Familial Thoracic Aortic Aneurysm and Dissection

Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) refers to a group of inherited conditions in which the thoracic aorta—the large blood vessel that carries blood from the heart to the rest of the body—becomes weakened and prone to enlargement (aneurysm) and tearing (dissection). These events can be life-threatening if not detected and managed appropriately.

FTAAD typically occurs without the characteristic features of connective tissue disorders like Marfan syndrome or Loeys-Dietz syndrome, though all these conditions share overlapping mechanisms. Affected individuals may have no outward physical signs, making the condition particularly dangerous because it can progress silently until a catastrophic event occurs.

Symptoms may not appear until the aorta has enlarged significantly or a dissection occurs. Warning signs can include chest or back pain, difficulty breathing, or signs of reduced blood flow to organs. Many cases are discovered incidentally during imaging for other reasons or through family screening after a relative is diagnosed.

Several genes are associated with FTAAD, including ACTA2, MYH11, and SMAD3. These genes encode proteins essential for the structural integrity and function of blood vessel walls. The condition is inherited in an autosomal dominant pattern, meaning one copy of a mutated gene is sufficient to cause the condition. Regular imaging surveillance and preventive surgery when appropriate can be life-saving.

NutraHacker examines the following genes related to Familial Thoracic Aortic Aneurysm:

• ACTA2
• MYH11
• SMAD3

For more information about your own genetic profile as related to Familial Thoracic Aortic Aneurysm, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload WGS raw DNA data and find out more about your critical genetics profile today.