Marfan syndrome is caused by an abnormal gene. The affected gene is FBN1. It helps make a protein in connective tissue called fibrillin-1. The abnormal gene happens as follows:
Marfan syndrome occurs about equally in boys and girls. It also occurs in all races and ethnic groups.
A child with Marfan syndrome can have many different signs and symptoms. The syndrome can affect the heart and blood vessels, bones and joints, and eyes. Symptoms can occur a bit differently in each child. They can include:
The symptoms of Marfan syndrome can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.
The healthcare provider will ask about your child’s symptoms and health history. He or she will give your child a physical exam. The health care provider will ask about any family history of Marfan syndrome. To be diagnosed with Marfan syndrome, your child must have some specific health problems affecting the heart, blood vessels, bones, and eyes.
Your child may also have tests, such as:
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.
There is no cure for Marfan syndrome. Treatment is based on which organs are affected. Your child will be closely watched for problems by getting regular checkups, echocardiography, and complete eye exams.
Heart problems are treated by a pediatric cardiologist. This is a doctor with special training to treat heart problems in children. The treatment may include:
Bone and joint problems are treated by a doctor with special training (orthopedist or orthopedic surgeon). Treatment may include braces, therapy, or surgery.
Eye problems are treated by an eye specialist (ophthalmologist). Treatment may include medicine or surgery.
Children with Marfan syndrome are at risk for serious complications, especially of the heart and blood vessels. They include:
Children may also have complications affecting other body systems, such as:
Most children with Marfan syndrome can expect to live long lives.
Call your child's healthcare provider if you notice changes in your child. You will need to get medical help right away if your child has a worsening aortic dissection. Call 911 or your local emergency number if your child has: