Familial mitral valve prolapse (MVP)

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Familial mitral valve prolapse (MVP)

Inheritance pattern of mitral valve prolapse (MVP) has been thought to be in an autosominal dominant pattern. Devereyx RB and colleagues [Devereyx RB et al. 1982] studied 45 probands and 179 first degree relatives to check the inheritance pattern if any. Fifty four of the one hundred and seventy nine first degree relatives (thirty percent) had echocardiographic evidence of mitral valve prolapse. In twenty nine families, at least one first degree relative had mitral valve prolapse. The incidence was higher in females with thirty seven of the ninety females (forty one percent) having MVP while only seventeen of the eighty nine men (nineteen percent; P<0.005) had it.
A P637Q mutation in the filamin A (FLNA) gene has been identified in X-linked myxomatous valvular dystrophy [Kyndt F et al. 2007]. In the X-linked variety, penetrance in men was complete while it was incomplete in women, as expected.

References for Familial mitral valve prolapse

Devereyx RB et al. Inheritance of mitral valve prolapse: effect of age and sex on gene expression. Ann Intern Med. 1982;97:826-32.
Kyndt F et al. Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy. Circulation. 2007; 115:40-49.

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