Loeys-Dietz syndrome

Diagnosing Loeys-Dietz syndrome can be challenging because sometimes, a child’s symptoms are mild or even non-existent. Even among members of the same family, the signs and symptoms of Loeys-Dietz syndrome vary widely — both in their features and in their severity. Your child’s pediatrician will be best able to determine whether your child should be evaluated by a geneticist for Loeys-Dietz syndrome.

• Loeys-Dietz syndrome is also often confused with Marfan syndrome.
   

At Children’s Hospital Boston, we can help you identify whether your child has Loeys-Dietz syndrome — and begin treatment to manage your child’s specific symptoms.
 

How is Loeys-Dietz syndrome diagnosed?

During your initial visit, a doctor will take a detailed family medical history and perform a comprehensive physical exam on your child. The combination of these evaluations will usually provide enough information for the doctor to suspect a diagnosis of Loeys-Dietz syndrome.

• The next step is an echocardiogram (an ultrasound of your child’s heart), which allows doctors to check for enlargement of the aorta or other heart defects. At this point, a cardiologist will be brought in to help assess your child.
• Depending on the evaluation, your doctor may also suggest more imaging studies (such as an MRI or a CT scan) to look for aneurysms in other arteries.
• Finally, if your medical team believes that your child has Loeys-Dietz syndrome, a geneticist can test for mutations by taking a small sample of blood. If a gene mutation is found in your child, the doctor will often recommend parental testing as well to get a more complete genetic picture.