Testing & diagnosis for marfan syndrome in children

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At Boston Children's Hospital, we know that the first step in treating your child is to form an accurate diagnosis. If there’s a history of Marfan syndrome in your family, your doctor may perform tests soon after your child is born. But in many cases, it’s easier to diagnose Marfan syndrome as your child gets older, since many of its features—like tall, thin stature and unusually long arm span—become more apparent with age.

Can Marfan syndrome be diagnosed in childhood?

There’s no single test to diagnose Marfan syndrome, and the condition can be especially hard to diagnose in children. It’s rare for a young child to be definitively diagnosed with the condition, since:

  • most symptoms don’t usually appear until the child is a teenager or young adult
  • Marfan’s traits and severity can vary widely even within families
  • Marfan syndrome shares traits with other connective tissue disorders

Usually, a child with suspected Marfan syndrome will be carefully monitored, so that any developing symptoms can be detected and treated as soon as possible.

Can prenatal testing detect Marfan syndrome?

  • If you have Marfan syndrome and you want to know whether your unborn baby also has the condition, you can have prenatal testing at about 10 to 12 weeks using chorionic villus sampling (CVS), which involves taking/examining a small sample of placenta from the womb.
  • Amniocentesis at about 16 to 18 weeks can also test for Marfan syndrome. This involves taking/examining a small sample of amniotic fluid (the fluid that surrounds the fetus in the womb).

These tests may show whether your child has the defective gene, but they can’t indicate how severe her Marfan syndrome will be. And the severity of the syndrome in the parent who has the condition doesn’t indicate how severe the syndrome will be in the child, either.

What are some of the tests my child will have?

Diagnostic tests can include:

  • echocardiogram (cardiac ultrasound): a diagnostic tool that evaluates the structure and function of the heart using sound waves that produce a moving picture of your child’s heart and heart valves. 
    • to check the aorta
    • to see how well your child’s heart chambers and valves are working
  • electrocardiogram (EKG, ECG): a diagnostic tool that evaluates the electrical activity of your child’s heart.
    • to check your child’s heart rate and heart rhythm
  • complete eye exam (including slit-lamp exam)
    • to check for lens dislocation, cataracts or other eye problems
  • x-ray: a diagnostic tool that evaluates the size, condition and spatial relationships of your child’s bones and organs
    • to check for skeletal abnormalities, such as scoliosis
  • DNA studies
    • to locate and confirm the mutated gene
  • Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) imaging of the lower back
    • to look for dural ectasia, a disorder of the “dura,” a spinal membrane made up largely of connective tissue

What specialists do we need to see?

Your child’s pediatrician, your family doctor or an orthopedist (bone specialist), may notice certain traits—like the long bones in your child’s body growing more than is normal—that suggest she may have Marfan syndrome.

If that happens, the doctor will likely refer your child to a clinical geneticist (hereditary disease expert, usually an MD or PhD) or cardiologist (heart specialist)—two specialists that usually have the most experience working with children who have Marfan syndrome.

  • The clinical geneticist will ask for medical information about your child and your family. This doctor will examine your child and other members of your family. The geneticist also will coordinate your visits with other doctors—including a cardiologist, an ophthalmologist (eye specialist) and an orthopedist.
  • The cardiologist will examine the size and function of your child’s aorta and heart valves.
  • The ophthalmologist will evaluate her eyes—including an exam to look for lens dislocation.
  • The orthopedist will examine your child’s bones and joints.

After reviewing their findings, your child’s team of specialists can determine whether she has Marfan syndrome. Here at Boston Children’s, we view your child’s diagnosis as a starting point: We’re now able to treat her with all the means at our disposal—so that we can effectively manage her condition.

Partnering with the National Marfan Foundation

Boston Children’s is actively involved with the National Marfan Foundation, which provides research, education and support services to families and children with Marfan syndrome.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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