Marfan Syndrome | Diagnosis & Treatments

How is Marfan syndrome diagnosed?

There’s no single test to diagnose Marfan syndrome. The condition can be especially hard to diagnose in children because most symptoms don’t appear until the child is a teenager or young adult. Usually, a child with suspected Marfan syndrome will be carefully monitored, so any symptoms can be detected and treated as soon as possible.

Tests for Marfan syndrome can include:

Can prenatal testing detect Marfan syndrome?

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

While these tests can show if your child has the gene defect, they can’t indicate how severe the condition will be. The severity of Marfan syndrome in a parent doesn’t predict how severe the syndrome will be in a child.

How is Marfan syndrome treated?

Marfan syndrome doesn't have a cure. But treatments can help delay or prevent complications, especially when they're started early. This is why early diagnosis is so important.

Marfan syndrome can affect many parts of your child's body, including the heart, bones and joints, and eyes. The type of treatment your child receives depends on their symptoms and related conditions.

Heart treatments

The most common and serious heart problem in people with Marfan syndrome is aortic dilation (aneurysm), a stretching and weakening of the aorta. It can lead to a bulge, tear, or leak in the aorta, which can be life threatening.

Treatments may include:

  • medication, including beta blockers, to lower the child’s blood pressure and reduce stress on the aorta, and angiotensin II blocker Losartan
  • surgery to replace the affected part of the aorta or to repair the heart valve if it’s not working normally

Pectus treatments

If your child has scoliosis — a common problem in children with Marfan syndrome — your child may need to wear a brace or other device to prevent the condition from getting worse. Severe cases of scoliosis may require surgery.

Some children may also need surgery to repair a chest that sinks in (pectus excavatum) or that sticks out (pectus carinatum). Surgery to repair a concave chest is done to prevent the chest from pressing on the lungs and heart, and is generally very successful.

Eye treatments

Marfan syndrome can lead to many eye problems, such as a dislocated lens, nearsightedness, early glaucoma, early cataracts, or a detached retina.

Glasses or contact lenses can help with some of these problems, but children may need surgery for a dislocated lens or cataracts. Treatments for glaucoma may include eye drops, medications, laser therapy, or surgery.

What is the long-term outlook for children with Marfan syndrome?

People with Marfan syndrome can lead normal lives. Treatments for Marfan syndrome are continually being refined, with long-term outcomes constantly improving. Still, those with Marfan syndrome need lifelong monitoring and possibly medication, since they will always be at some risk for other heart problems.

Your child's cardiologist will help you create a long-term care program for your child as they mature into the teen years and adulthood.

As your child becomes an adult, their treatment can be transferred to the Adult Congenital Heart Program at Boston Children’s.