What is Marfan Syndrome?
Marfan syndrome is a genetic disorder in which the connective tissues that form and support many parts of the body become 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. Marfan syndrome often weakens the aorta, the largest blood vessel in the body, putting the child at risk for heart problems.
Children with Marfan syndrome tend to be tall and thin, with long arms, long double-knuckled fingers, a short torso, and very long legs. They often have an irregularly shaped chest, which increases the risk of developing lung problems.
Symptoms and Causes
Children with Marfan syndrome often have certain physical traits that may become more noticeable as they get older. These traits may include:
- long arms, legs, fingers, and toes
- long, narrow face
- flexible joints
- short torso
- a spine that curves to one side (scoliosis)
- a chest that sinks in (pectus excavatum) or sticks out (pectus carinatum)
- eye problems, like nearsightedness or a dislocated lens
- overly crowded teeth
- flat feet
- unexplained stretch marks on the skin
Not everyone with these traits has Marfan syndrome. If you are concerned that your child has Marfan syndrome, it is important to see a doctor who is experienced in diagnosing genetic disorders.
What causes Marfan syndrome?
The syndrome is caused by a defect in a gene known as FBN1, which controls the structure of fibrillin-1, a protein that is an important part of connective tissue in the body.
About 75% of children with Marfan syndrome have inherited the disease from their parents. In the remaining 25% of children, the gene mutates spontaneously for no apparent reason.
How is Marfan syndrome diagnosed?
There is no single test to diagnose Marfan syndrome. The disease can be especially difficult to diagnose in children, as most symptoms do not appear until the child is a teenager or young adult. Usually, a child with suspected Marfan syndrome is closely monitored so that any symptoms can be detected and treated as soon as possible.
Tests for Marfan syndrome may include:
- echocardiogram (ultrasound of the heart)
- electrocardiogram (ECG or EKG)
- magnetic resonance imaging (MRI) or computed tomography of the heart
- DNA test to detect and confirm a genetic defect
Can a prenatal test detect Marfan syndrome?
If you have Marfan syndrome and want to know if your unborn child also has the disease, you can have a prenatal test at about 10 to 12 weeks using a chorionic villus biopsy. This test involves removing and examining a small sample of the placenta from the uterus. Amniocentesis at 16 to 18 weeks of age may also reveal Marfan syndrome. This involves taking and examining a small sample of amniotic fluid.
While these tests can show if your child has a genetic defect, they cannot indicate the severity of the condition. The severity of Marfan syndrome in a parent does not predict the severity of the syndrome in a child.
How is Marfan syndrome treated?
Marfan's syndrome is incurable. But treatment can help delay or prevent complications, especially if 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 the eyes. The type of treatment your child receives depends on their symptoms and underlying medical conditions.
Cardiotherapy
The most common and serious heart problem in people with Marfan syndrome is aortic dilatation (aneurysm), stretching, and weakening of the aorta. This can lead to swelling, rupture, or leakage in the aorta, which can be life-threatening.
Treatment may include:
- drugs, including beta-blockers, to lower the child's blood pressure and reduce the load on the aorta, as well as the angiotensin II inhibitor losartan
- surgery to replace the affected part of the aorta or repair the heart valve if it is not working properly
Pectus treatment
If your child has scoliosis—a common problem in children with Marfan syndrome—your child may need to wear a corset or other device to prevent the condition from getting worse. In severe cases of scoliosis, surgery may be required.
Some children may also need surgery to correct a sunken (pectus excavatum) or protruding (pectus carinatum) chest. Surgery to repair a sunken chest is done to keep the chest from pressing on the lungs and heart, and is usually very successful.
Eye treatment
Marfan syndrome can lead to many vision problems such as lens shift, myopia, early glaucoma, early cataract or retinal detachment.
Glasses or contact lenses can help with some of these problems, but children may need surgery for a luxated lens or cataract. Treatment 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 constantly being improved, and long-term outcomes are constantly improving. However, people with Marfan syndrome need lifelong monitoring and possibly treatment, as they are still at risk for other heart problems.
A pediatric cardiologist will help you create a long-term care plan for your child as they develop into adolescence and adulthood.