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Marfan syndrome is an inherited disorder that affects the connective tissue that holds the body’s organs and other tissues together. Marfan syndrome raises a child’s risk for serious complications, especially for the heart and blood vessels.
Complications affecting patients with Marfan syndrome include an enlarged aorta and abnormality of the aortic valve. If the aorta becomes large enough, it may tear or “dissect.” Dissection of the aorta is life threatening. Abnormalities of the aortic valve can cause the valve to leak, affecting the function of the heart.
Treatment for the condition can include medications, such as beta blockers, to ease the heart’s workload. In addition, your child’s pediatric cardiologist may recommend surgery to repair the aorta or heart valves. Your child’s doctor may plan the surgery, but in some cases, such as a dissection, it will be an emergency.
The board-certified and fellowship-trained cardiologists at Norton Children’s Heart Institute, affiliated with the UofL School of Medicine, have the training and experience to treat heart complications caused by Marfan syndrome. Norton Children’s Heart Institute is the leading provider of pediatric heart care in Louisville and Southern Indiana.
We have a network of remote diagnostic and treatment services in Kentucky and Southern Indiana.
The specialists at Norton Children’s Heart Institute are skilled at diagnosing Marfan syndrome. They will use their experience and sophisticated tools to pinpoint your child’s condition. Tests can include electrocardiography, echocardiography, a complete eye exam, a computed tomography (CT) or magnetic resonance imaging (MRI) scan, and testing for the mutations in the FBN1 gene that can cause Marfan syndrome.
Symptoms of Marfan syndrome include:
Marfan syndrome is a genetic disease, but that doesn’t mean that it gets passed along in every case. In about 75% of Marfan syndrome cases, the child has inherited the condition from a parent. In the remaining cases, Marfan syndrome is caused by new, spontaneous gene mutations.