Molecular genetics of mitral valve prolapse

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Abstract
Mitral valve prolapse is a common disorder with a strong hereditary component. It is associated with important mitral regurgitation requiring surgical repair and other clinical complications. Genetic studies can provide clues to mechanism and therapy. Advances in phenotypic classification have led to linkage to sites on chromosomes 11, 13 and 16 and identification of the first mutation in familial mitral valve prolapse not related to connective tissue syndromes - an X-linked filamin A mutation. New understanding of mechanism based on studies in a mouse Marfan model emphasize the dynamic interplay of differentiating cells and growth factors, with strong potential for therapy. This new knowledge brings us closer to the ultimate goal of preventing the progression of mitral valve disease to the stage of clinical expression.