Marfan+Syndrome

​Justin Bearden Biology 1 Honors 1st Block Ms. Beaty

Marfan Syndrome

Summary:

Marfan syndrome is a disorder of a persons' connective tissue, (the tissue that strengthens the body's structures). Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Symptoms:

People with Marfan syndrome are usually tall with long, thin arms and legs and in some cases spider-like fingers.. When they stretch out their arms, their arm lenght is longer than their height.

Treatment: Vision problems should be treated when possible. Take care to prevent scoliosis, especially during adolescence. Medicine to slow the heart rate may help prevent stress on the aorta. Avoid participating in competitive athletics and contact sports to avoid injuring the heart. Some people may need surgical replacement of the aortic root and valve. People with Marfan syndrome should take antibiotics before dental procedures to prevent endocarditis. Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.

Causes: Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body. A problem with this gene leads to changes in elastic tissues, particularly in the aorta, eye, and skin. The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood. In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect.

Tests & diagnosis: The doctor will perform a physical exam and can find signs of: An eye exam may show:
 * Collapsed lung
 * Heart valve problems
 * Aneurysms


 * Defects of the lens or cornea
 * Retinad detatchment
 * Vision problems

The following tests can be performed:

Echocardiogram
 * Fibrillin-1 mutation testing (in some people)

Complications: Aortic regurgitation


 * __ Other symptoms include __**

Highly arched palate and crowded teeth Hypotonia Learning disability Movement of the lens of the eye from its normal position Nearsightedness Scoliosis Small lower jaw (micrognathia) Thin, narrow face
 * Coloboma of iris
 * Flat feet

Karyotype: