Familial Mitral Valve Prolapse (MVP)

Familial mitral valve prolapse (MVP)

Inheritance pattern of mitral valve prolapse has been thought to be in an autosomal dominant pattern. Devereux et al [1] studied 45 probands and 179 first degree relatives to check the inheritance pattern if any. 54 of the 179 first degree relatives (30%) had echocardiographic evidence of mitral valve prolapse. In 29 families, at least one first degree relative had mitral valve prolapse. The incidence was higher in females with 37 of the 90 females (41%) having MVP while only 17 of the 89 men (19%; P<0.005) had it.

A P637Q mutation in the filamin A (FLNA) gene has been identified in X-linked myxomatous valvular dystrophy [2]. In the X-linked variety, penetrance in men was complete while it was incomplete in women, as expected.

References

1. R B Devereux, W T Brown, R Kramer-Fox, I Sachs. Inheritance of mitral valve prolapse: effect of age and sex on gene expression. Ann Intern Med. 1982;97:826-32.
2. Florence Kyndt, Jean-Pierre Gueffet, Vincent Probst, Philippe Jaafar, Antoine Legendre, Françoise Le Bouffant, Claire Toquet, Estelle Roy, Lesley McGregor, Sally Ann Lynch, Ruth Newbury-Ecob, Vinh Tran, Ian Young, Jean-Noel Trochu, Hervé Le Marec, Jean-Jacques Schott. Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy. Circulation. 2007; 115:40-49.