Marfan syndrome

[PussyCat]

Marfan syndrome consists of connective tissue anomalies resulting in ocular, skeletal, and cardiovascular abnormalities (eg, dilation of ascending aorta, which can lead to aortic dissection). Diagnosis is clinical. Treatment may include prophylactic beta-blockers to slow dilation of the ascending aorta and prophylactic aortic surgery.
Inheritance of Marfan syndrome is autosomal dominant. The basic molecular defect results from mutations in the gene encoding the glycoprotein fibrillin-1 (FBN1), which is the main component of microfibrils and helps anchor cells to the extracellular matrix. The principal structural defect involves the cardiovascular, musculoskeletal, and ocular systems. The pulmonary system and CNS are also affected. There are many different manifestations of the genetic mutation that causes Marfan syndrome; however, it is typically recognized by the constellation of long limbs, aortic root dilation, and dislocated lenses.

[Jason Yan]

a genetic condition affecting the connective tissue in which the arm and leg bones are longer than normal and there may be problems with the heart and eyes