Familial Thoracic Aortic Aneurysm and Dissection Syndrome (Familial TAAD)

Our approach to familial thoracic aortic aneurysm and dissection syndrome (familial TAAD)

Children with familial thoracic aortic aneurysm and dissection syndrome often have a weak aorta that, without repair, can rupture or tear. We have dedicated expert cardiologists who specialize in familial TAAD to guarantee the best care for your child. We also partner with our nationally renowned heart center and heart surgeons to provide highly complex, expert heart surgery for your child.

About familial thoracic aortic aneurysm and dissection syndrome

Familial thoracic aortic aneurysm and dissection syndrome is a genetic disorder caused by mutations in a number of genes, the most common of which is the ACTA2 gene or occasionally the TGFBR2 gene. These genes provide instructions on how to make a protein that is found in the smooth muscle of veins and arteries. When this protein is missing, vascular walls become weak. Familial TAAD commonly affects the aorta, the large blood vessel that distributes blood from the heart to the rest of the body. In familial TAAD, the aorta can be weakened and stretched, increasing the risk of developing a life-threatening tear in the aorta (aortic dissection) or allowing a bulge (aneurysm) to form in the wall of the blood vessel. Signs might start in childhood or may not occur until adulthood. A child’s features might mildly resemble the physical and facial features of children with Marfan syndrome or Loeys-Dietz syndrome.

Signs of familial TAAD

  • Heart and artery problems: Aortic abnormalities including dilation, aneurysm, tear, or dissection near the heart. Aortic aneurysms can present as a pain in the neck, jaw, back, or chest. They can also cause painful swallowing, wheezing, shortness of breath, cough, or hoarseness. Increased risk of heart attack or stroke.
  • Bone and joint issues: Including tall, thin body; flat feet; curved spine; long arms, legs, and fingers; or sinking chest or one that sticks out and a curved spine (scoliosis).
  • Pouching (hernia) in lower abdomen.
  • Skin discoloration and stretch marks.

Learn more by calling us or visiting the Marfan Foundation’s TAAD page