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Marfan Syndrome (MS)
Thursday, 24 July 2003
Tuesday, 12 July 2005

What

Marfan Syndrome (MS) is an inherited, genetics disorder characterized by degenerative, generalized disease of the connective tissues of the body. It is caused by a defect in fibrillin, which is a protein that helps in the formation of connective tissues throughout the body. Connective tissues are important for providing elasticity and support to the cells of the body, especially in the walls of arteries and veins. As a result of this fibrillin defect, affected individuals develop specific problems in the eye, skeletal bones and cardiovascular system.

Who

MS occurs in all ethnicities and equally affects both males and females. The disorder occurs in about 1 in 20,000 individuals.

Signs and Symptoms

The symptoms of Marfan syndrome occur because of weak connective tissues. The most characteristic features of MS include tall stature, with long arms, legs, fingers, and toes. There can be chest asymmetry and curvatures of the spine (scoliosis) because of abnormal bone growth. Chest wall instability can lead to pneumothorax (a hole in the lung which allows air to leak out, causing sharp pain and difficulty breathing.) The joints are often very flexible (hypermobile). This can cause flat feet. There is a risk of being easily injured because of weak joints and ligaments. Eye problems such as nearsightedness, lens displacement, retinal detachment, or cataracts are common. This can cause vision problems and often children have to wear glasses. Heart problems can occur. They can have defects in the valves of the heart such as mitral valve prolapse, aortic aneurysm (bulging of the aorta), and aortic dissection (tear in the wall of the aorta which can lead to aneurysm or rupture.) Inguinal hernias and weakness at surgical sites can occur. Headaches and back pain may be a sign of dural ectasia which is a bulging of the spinal cord. They can have stretch marks.

Possible Causes

Marfan syndrome is caused by changes (mutations) of the fibrillin (FBN1) gene. This gene is located on chromosome 15. MS is inherited in an autosomal dominant manner.

Diagnosis

Clinical diagnosis of MS is based on family history and the characteristic signs and symptoms described above. Echocardiogram of the heart, ophthalmologic examination of the eyes, and magnetic resonance imaging (MRI) of the spine can help confirm abnormalities associated with Marfan syndrome. Genetic testing of the FBN1 gene is available if needed to confirm the diagnosis.

Treatment

There is no cure for Marfan syndrome, but treatments are available for some of the problems. For example, cardiovascular surgery is performed to repair defective heart valves, aneurysms, or aortic dissections. Medications such as beta-blockers can be taken to prevent aortic dilation (widening of the aorta). Eye surgery is frequently performed if there is lens dislocation, retinal detachment, or cataracts. Glasses can be prescribed for nearsightedness. Back braces help with scoliosis (curvatures of the spine). Physical therapy assists with maintaining good posture. If the scoliosis becomes severe, orthopedic surgery can be performed. Because of the risk of aortic dilatation, individuals with MS should not participate in rigorous physical activities or organized sports that have a high amount of exertion or abrupt starts and stops.

Prognosis

Prognosis depends on the severity of symptoms, especially the cardiac problems. Many people with Marfan syndrome live normal, healthy lives and mature into independent adults. Some individuals with severe symptoms require more medical and surgical intervention. If the cardiovascular problems are severe, death can result. Pregnancy can be dangerous in women with MS because the aorta can dilate, dissect, or rupture during pregnancy, labor, or after delivery. Thus, women should plan their pregnancies carefully with the guidance of their cardiologist and have close monitoring during the pregnancy.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Marfan Foundation
A summary of Marfan syndrome with resources for parents, community events, support, and ongoing research.

National Library of Medicine: Marfan Syndrome
A great website with information about Marfan syndrome.

The Canadian Marfan Association
A good website with information, resources, and research.

Google Search for Marfan Syndrome (MS)

References and Sources

Gene Reviews: Marfan Syndrome www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=D354sWBvDKZc0&gry=&fcn=y&fw=ZO2v&filename=/profiles/marfan/index.html OMIM: Marfan Syndrome. McKusick, V. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154700 Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. Pediatrics. 1996 Nov;98(5):978-82.