Mitral valve prolapse
Mitral valve prolapse, also known as floppy mitral valve syndrome, systolic click murmur syndrome or billowing mitral leaflet, is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. It is the primary form of myxomatous degeneration of the valve. There are various types of MVP, broadly classified as classic and nonclassic. In its nonclassic form, MVP carries a low risk of complications and often can be kept minimal by dietary attention. In severe cases of classic MVP, complications include mitral regurgitation, infective endocarditis, congestive heart failure, and, in rare circumstances, cardiac arrest.Wikipedia
Mitral valve prolapse (MVP) is reported to be a common cardiac valve disease, affecting nearly 1 in 40 individuals.[PMID 10387935
] The genes responsible for two forms (types 1 and 3) are not known. One form (type 2) of mitral valve prolapse has been determined to be caused by mutations in the DCHS1 gene.[PMID 26258302] The two mutations reported are:
- rs201457110, aka R2513H
- rs768737101, aka kR2330C
An X-linked (recessive) condition that is also characterized by mitral and/or aortic valve regurgitation, cardiac valvular dysplasia, is now known to result from certain mutations in the filamin A FLNA gene, including:
