Loeys-Dietz Syndrome

Our approach to Loeys-Dietz syndrome

Children with Loeys-Dietz syndrome often have a weak aorta that without repair can rupture or tear. We have dedicated expert pediatric cardiologists who specialize in Loeys-Dietz syndrome to guarantee the best care for your child. We also partner with our nationally renowned heart surgeons to provide highly complex, expert heart surgery for your child. Children with Loeys-Dietz can have serious heart issues, demanding surgery in their early years. Stomach and intestinal problems can be common with Loeys-Dietz syndrome. We collaborate with our well-versed gastroenterology team to resolve issues quickly and effectively. Our program’s registered dietitian assists with dietary needs.

About Loeys-Dietz syndrome

Loeys-Dietz syndrome is a connective tissue disorder caused by a mutated gene. In this complex connective tissue disorder, one of five genes plays a role in the transforming growth factor beta (TGF-β) cell signaling pathway. This pathway is responsible for normal growth and development of connective tissues throughout the body. While this is different from Marfan syndrome, many of the signs are similar. 

Signs of Loeys-Dietz syndrome

  • Heart problems: Most commonly, enlarged aorta and weakened blood vessels. Weakened walls of blood vessels can lead to tears (aortic dissection) and bulges (aneurysms). It can also cause arterial tortuosity, a twisting and lengthening of arteries, and heart defects noticed at birth, including bicuspid aortic valve, atrial septal defect, and patent ductus arteriosus.
  • Unique eye characteristics: Widely spaced eyes (hypertelorism), and whites of eyes that look gray or blue.
  • Mouth and nose irregularities: Including cleft palate or split uvula.
  • Bone defects: Bones in the neck and spine that are unstable or malformed, clubfoot, osteoporosis causing brittle bones.
  • Skin problems: Skin can appear translucent or soft, and bruise or scar easily.
  • Organ challenges: Tissues in the spleen, bowel, and uterus may rupture. Stomach and intestines can bleed or become inflamed, causing chronic problems such as abdominal pain, diarrhea, or problems absorbing nutrients.

Learn more by visiting the Loeys-Dietz Syndrome Foundation >