Mafan+Syndrome

Marfan Syndrome Marfan Syndrome (MFS) is a genetic disease that affects ones connective tissue. Connective tissue is found in many body systems, therefore there are numerous symptoms including those in the skeletal system, nervous system, heart, eyes, and skin. Common physical characteristics of a person with Marfan syndrome include a very tall, slender structure, loose joints, arms, legs, fingers (refer to picture on page 2), and toes disproportionately long, a narrow face, protruding or indented breastbone, or curvature of the spine. Many systems are affected but the heart is to be most cautious of as the aorta may weaken and cause complications or in some cases sudden death. At least 1 in 5,000 people have Marfan syndrome in the United States. Marfan syndrome is caused by a defect mutation in the FBN1 gene; this gene determines the structure of fibrillin, a protein vital in connective tissue. Marfan syndrome is caused by the same defective FBN1, but it affects each individual differently, the reason as to why is unknown. A child born to a parent with Marfan syndrome has 50% chance of being diagnosed, and two unaffected parents have a 1 in 10,000 chance of having a child diagnosed. 25% of cases are due to spontaneous mutation. People with MFS are born with the disease, but may not be diagnosed until later in life. There are no specific tests to determine diagnosis of the disease, so parents have to rely on geneticists. The diagnosis of MFS relies on observation of complete medical history, including family members with the disorder or unexplainable heart related deaths. There is no cure for Marfan syndrome, as it would require a change in the FBN1 gene. However, treatment is provided for the symptoms that appear in MFS. These include regular checkups of the spine, eyes, and heart. In the spine, annual checkups are required as deformity may cause further complications in the heart. Contacts or glasses may be prescribed to assist in problems involving vision, and various drugs may be prescribed to assist complications involving the heart. There is presently no possible cure for Marfan syndrome; many studies have been determined to discover more about the genetic disease. A study by Benjamin Brooke revealed that Angiotesin receptor blockers (ARBs) are potentially suitable for treating the heart complications involved in Marfan syndrome. ARBs are commonly used to treat hypertension and other heart conditions. These complications in MFS the ARBs may treat include tearing of the aortic root, which leads to premature deaths. Eighteen subjects aged one to sixteen were treated with the ARBs and it was found that the rate of enlargement of the aortic root as well as the sinotubular junction decreased compared to the rate before treatment. Although there is no present cure for MFS, there are many advancing treatments for the many symptoms allowing those with the disease to continue their life normally.