Marfan syndrome is a genetic disorder that affects bones and soft tissues; people with this syndrome tend to have skeletal, eye, and heart defects. The syndrome is not curable, but the physical problems it causes can be monitored and treated, both to reduce their severity and to reduce the risks of further complications. Treatment for Marfan syndrome includes surgery, medication, and prophylactic antibiotics to reduce infection risks in certain circumstances.
The cause of Marfan syndrome is a mutation in a gene called fibrillin-1. When this gene is mutated, the body cannot properly produce and repair connective tissues. Connective tissues are present throughout the body in organs, vessels, and muscles, so people with this syndrome are affected in many different ways. In general, an individual will receive treatment for Marfan syndrome symptoms as they emerge. Some symptoms, such as heart defects, are screened for at an early age to prevent serious complications.
Abnormal bone growth can cause joint pain, speech disorders, and scoliosis. Joint pain is typically treated with medication, while speech therapy is employed if necessary for speech disorders. In the case of scoliosis, the most common treatment is the use of a corrective brace to help prevent spinal curvature from worsening; in severe cases, surgery can help straighten the spine. For some children, bone deformities can cause the chest to grow in a concave fashion, affecting breathing. Surgery to correct the concavity can help the child breathe normally.
Eye problems caused by connective tissue defects can include severe nearsightedness or visual distortion. Some patients may experience dislocated lenses, glaucoma, cataracts, and detached retinas. In some cases, these problems can be partially corrected with laser surgery, while some patients may require a corneal transplant for the treatment of cataracts. Annual examinations are recommended as a preventative treatment for Marfan syndrome-related eye disorders.
The most serious symptoms of the syndrome involve the heart, and one potential problem is called aortic dilation, which occurs when the aorta becomes enlarged. An enlarged aorta can rupture, resulting in a high risk of death if not treated promptly; consequently, aortic dilation is typically treated with surgery when the enlargement is severe enough. Other cardiac symptoms can include heart palpitations, racing heart, shortness of breath, and angina, caused by deterioration of cardiac connective tissue. Cardiac treatment for Marfan syndrome can include medication to slow and stabilize the heart rate, and cardiac surgery if heart valves become too damaged to function effectively.
Sometimes, treatment for Marfan syndrome symptoms is carried out on a prophylactic basis. This means treatment is used as a preventative measure in certain specific circumstances. One example of this is the use of broad-spectrum antibiotics before dental procedures which may prevent the development of endocarditis, a heart-related infection. Additionally, women with the syndrome are monitored very closely when they become pregnant. This is necessary because cardiac symptoms can worsen during pregnancy, as excess stress is placed upon the heart.
