Loeys-Dietz Syndrome | Diagnosis & Treatment

How is Loeys-Dietz syndrome diagnosed?

Diagnosing Loeys-Dietz syndrome can be challenging because some children have very mild symptoms. Also, Loeys-Dietz syndrome is often confused with Marfan syndrome.

If your child’s doctor suspects Loeys-Dietz syndrome, he or she may order one or more of the following tests:

What are the treatment options for Loeys-Dietz syndrome?

Treatment for Loeys-Dietz syndrome can vary, depending on your child’s specific symptoms.

Medications

The most serious complication of Loeys-Dietz syndrome is the rupture of an aneurysm. To manage aneurysms, your child’s doctor may recommend:

  • medications such as beta blockers and Losartan can be used to help slow heart rate and lower blood pressure in the arteries to reduce the risk of rupture
  • close monitoring of your child's aorta and arteries for aneurysms
  • avoiding certain high-impact activities such as competitive contact sports and weightlifting because they can increase the chances of a rupture

Surgery

Many children with Loeys-Dietz syndrome often require surgical intervention. They are at a high risk for aneurysm formation, and rupturing or tearing of these aneurysms can be very life threatening. These aneurysms require careful monitoring and early surgical repair to prevent this severe complication.