| Marfan Syndrome |
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| cardiology | |
| diseases involving the fasciae | |
| genetic disorders | |
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Marfan syndrome received great public attention when the musical ''RENT'' premiered in 1996 . The day before the musical premiered Off-Broadway , its writer, Jonathan Larson , died of an Aortic Dissection , which was determined to have been caused by Marfan syndrome. CAUSE Marfan syndrome is an Autosomal Dominant disorder that has been linked to the FBN1 Gene on Chromosome 15. FBN1 Codes For a protein called Fibrillin -1, which is essential for the formation of Elastic Fiber s found in connective tissue. Marfan syndrome is associated with incomplete Penetrance , therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in Mice , and the study of mouse fibrillin synthesis and secretion, and connective tissue formation, has begun to further our understanding of Marfan syndrome in humans. For instance it has been found that simply reducing the level of normal fibrillin-1 causes the Marfan related disease in mice {Link without Title} . More recently, transforming growth factor β (TGFβ) has been shown to play an important role in Marfan syndrome. Fibrillin-1 binds TGFβ, inactivating it. In Marfan syndrome, reduced levels of fibrillin-1 allow TGFβ to damage the lungs and heart. New treatments for Marfan, using antagonists of TGFβ, are being investigated (Habashi et al., 2006 Science 312(5770):117-21). DIAGNOSIS Although Genetic Testing is available, a diagnosis is usually made solely on clinical findings. EPIDEMIOLOGY Estimates indicate that perhaps 1 in 10,000 people (0.01 percent of the population) has Marfan syndrome. It affects all races and both sexes equally. Most individuals with Marfan syndrome have another affected family member, but about 30 percent of cases are due to '' De Novo '' Genetic Mutations . Genetic Counseling is available for families who may be at risk for Marfan syndrome. SYMPTOMS The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic Valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular Pulse , and undue tiredness. Another complication is Aortic Aneurysm . Marfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and Finger s. Sometimes the fingers have a long, thin, Spider y appearance known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine ( Scoliosis ) is a common problem, as is abnormal indentation ( Pectus Excavatum ) or protrusion ( Pectus Carinatum ) of the Sternum . These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptoms include; abnormal joint flexibility, high Palates , flat feet, stooped shoulders, and dislocation of the optic lens. Nearsightedness or Myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the Retina and/or displacement of the lens in one or both eyes. {Link without Title} TREATMENT There is no cure for Marfan syndrome, but effective treatment allows many people with the disorder to live normally. The heart conditions related to Marfan syndrome may not necessarily produce obvious symptoms. As a result, regular checkups by a Cardiologist are needed to monitor cardiovascular health. Potential problems may be detected through Echocardiography , which involves the use of Ultrasound to study the heart valves and the aorta. Beta Blocker s have been used to control some of the complications such as aortic Aneurysm s. If the dilation of the aorta threatens to lead to rupture a composite aortic valve and graft may be implanted. Although aortic graft surgery is a serious undertaking it usually results in a good outcome and a satisfactory quality of life. Elective aortic valve/graft surgery is usually considered when aortic dilatation reaches 50 millimeters, but each case needs to be specifically evaluated by a qualified cardiologist. New valve-sparing surgical techniques are becoming more common. Rupture of the aorta, or Aortic Dissection , is the most common cause of sudden death among Marfan syndrome sufferers. The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in the typical manner for the appropriate condition. The blood pressure drug losartan prevents aortic aneurysms and lung problems in a Model Organism mouse model of the disease. {Link without Title} FAMOUS PEOPLE Below is a list of prominent figures known or believed to have had Marfan syndrome (most are according to the U.S. National Marfan Foundation):
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