Marfan syndrome is a genetic disorder that causes the connective tissues that shape and support the body to be weaker than they should be. It can affect many parts of the body — including the heart and blood vessels, lungs, bones, joints, eyes, and skin. It often weakens the aorta, the body’s largest blood vessel, putting a child at risk for heart problems.
There is no cure for Marfan syndrome, but some of its symptoms can be treated. Early testing and monitoring of a child who is suspected of having the condition can improve their quality of life.
Chloe has always defied expectations. Despite surgeries and other treatments for several conditions that stem from the genetic disorder Marfan syndrome, she remains upbeat.
Heart problems are common with Marfan syndrome. Patients with Marfan syndrome can develop aneurysms of the aorta, most commonly of the aortic root but also the aortic arch and descending aorta. Without treatment, these aneurysms can be life threatening. Leakage of the mitral valve is also common.
Children with Marfan syndrome often have specific physical traits that may become more noticeable as they grow. These traits can include:
Not everyone who has these traits has Marfan syndrome. If you’re concerned that your child may have Marfan syndrome, it’s important to see a doctor who’s experienced in diagnosing genetic disorders.
Marfan syndrome is caused by a genetic change (sometimes called a mutation or variant) in FBN1, a gene that controls the structure of fibrillin-1, a protein that’s an important part of the connective tissue in the body.
About 75 percent of children with Marfan syndrome have inherited the condition from a parent. In the other 25 percent of children, the genetic change occurs spontaneously for no apparent reason.
A diagnosis of Marfan syndrome relies on the assessment of a combination of a child’s personal medical history, family history, and genetic testing. A diagnosis can be made with a formal clinical evaluation by a health care provider familiar with Marfan syndrome. The condition can be especially hard to diagnose in children because most symptoms don’t appear until a child is a teenager or young adult. Usually, a child with suspected Marfan syndrome will be carefully monitored so that any symptoms can be detected and treated as soon as possible.
Evaluations for Marfan syndrome can include:
Marfan syndrome doesn't have a cure. But treatments can help control, delay, or prevent complications, especially when they are started early. This is why early diagnosis is important.
Marfan syndrome can affect many parts of your child's body, including their heart, bones and joints, and eyes. The type of treatment your child receives depends on their symptoms and related conditions.
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. Some patients with Marfan syndrome can also develop leakage of the mitral valve.
Treatments may include:
If your child has scoliosis — a common problem in children with Marfan syndrome — they 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.
Marfan syndrome can lead to many eye problems, such as a dislocated lens (ectopia lentis), nearsightedness (myopia), 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.
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 because they will always be at some risk for other heart problems.
Your 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.
Boston Children’s Center for Cardiovascular Genetics cares for patients and families affected by Marfan syndrome and other genetic disorders. We also conduct research to develop better treatments for these conditions.
Our team offers complete long-term care for the cardiovascular conditions associated with Marfan syndrome. And because Marfan syndrome is a multi-system disorder, our program works closely with other specialists — including general surgeons, ophthalmologists, orthopedic surgeons, psychiatry and behavioral specialists, and developmental medicine specialists — to provide complete care for our patients with this condition.
Our clinicians and scientists are at the leading edge of research and treatment for the medical prevention and management of aneurysms associated with Marfan syndrome. Our surgeons specialize in aortic valve-sparing procedures (the valve is left intact) to treat these aneurysms with excellent results.
