Genetic mechanisms of mitral valve prolapse
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- Slaugenhaupt, S.A., Levine, R.A., Hagege, A.A. et al. Curr Cardio Risk Rep (2008) 2: 463. doi:10.1007/s12170-008-0082-4
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Mitral valve prolapse (MVP) is a common cardiac disorder that exhibits a strong hereditary component. Defined as billowing of the mitral leaflets into the left atrium, it is the most common cause of isolated mitral regurgitation requiring surgical repair, and it can lead to congestive heart failure, endocarditis, atrial arrhythmias, and an increased risk of stroke and sudden death. Three-dimensional echocardiographic studies demonstrating the saddle shape of the mitral valve have increased the specificity of diagnosis and provided a strong phenotypic basis for genetic studies. MVP loci have been mapped to chromosomes 11, 13, and 16 by studying large families with multiple affected members, and mutations in the filamin A gene have been shown to cause familial cardiac valvular dystrophy, an X-linked form of MVP. Determination of the genetic basis of MVP is important because the disease often manifests clinically in the fifth or sixth decade of life through presentation as a severe cardiac event. Earlier intervention in genetically susceptible individuals could potentially arrest or prevent progression to a clinically severe stage.