Mitral Regurgitation - Marfan Syndrome
Case description
This video presents rupture chordae mitral regurgitation / toe / Marfan Syndrome. The Marfan Syndrome is a genetic disorder of connective tissue. The syndrome is caused by the misfolding of a glycoprotein which forms elastic fibers in connective tissue (fibrillin-1). The mutated fibrillin binds poorly to TGF-β, which results in an accumulation of excess TGF-β in the lungs, heart valves, and aorta. The signs of regurgitation from prolapse of the mitral or aortic valves result from cystic medial degeneration of the valves.
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