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marfan syndrome
Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of connective tissue. It has a variable clinical presentation, ranging from mild to severe systemic disease. The most serious manifestations involve defects of the heart valves and aorta, which may lead to early death if not properly managed. The syndrome also may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. People with Marfan syndrome tend to be unusually taller than they would be without Marfan syndrome, due to the disorder causing people with the condition to have long limbs and long, thin fingers and toes.
The syndrome is caused by the misfolding of fibrillin-1, a glycoprotein which forms elastic fibers in connective tissue and contributes to cell signaling activity by binding to and sequestering transforming growth factor beta (TGF-β). The mutated fibrillin binds poorly to TGF-β, which results in an accumulation of excess TGF-β in the lungs, heart valves, and aorta. This in turn causes abnormal structure and function of vascular smooth muscle and reduced integrity of the extracellular matrix, which weaken the tissues and cause the features of Marfan syndrome.
Named after Antoine Marfan, the French pediatrician who first described the condition in 1896,〔(Johns Hopkins Comprehensive Marfan Center. ) Johns Hopkins Medicine. Retrieved on January 6, 2009.〕 the disease is an autosomal dominant disorder. Management often includes the use of angiotensin II receptor antagonists (ARBs) and beta blockers.
==Signs and symptoms==
More than 30 different signs and symptoms are variably associated with Marfan syndrome. The most prominent of these affect the skeletal system and are found in numerous other diseases (see Differential diagnosis, below). Therefore, distinguishing Marfan syndrome from other "marfanoid" syndromes requires the assessment of non-skeletal clinical and laboratory findings—especially of the eyes, aorta, and heart. Complicating the physical assessment of such persons, considerable clinical variability occurs within families carrying an identical DNA variant.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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