Testing & diagnosis for Loeys-Dietz syndrome in children

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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.

At Boston Children’s Hospital, 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.
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- Sandra L. Fenwick, President and CEO

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