Inheritance of the mitral valve prolapse syndrome. Discussion of a three-dimensional penetrance model

Nancy V. Strahan; Edmond A. Murphy; Nicholas J. Fortuin; Patricia C. Come; J. O Neal Humphries

doi:10.1016/0002-9343(83)90791-X

Inheritance of the mitral valve prolapse syndrome. Discussion of a three-dimensional penetrance model

Nancy V. Strahan, Edmond A. Murphy, Nicholas J. Fortuin, Patricia C. Come, J. O Neal Humphries

Research output: Contribution to journal › Article

Abstract

The families of 12 probands with classic mural valve prolapse were studied for evidence of mitral valve prolapse. Seventy parents, sibs, and progeny were included in the analysis. Forty-seven percent (16 of 34) of progeny were affected compared with 30 percent (3 of 10) of parents. Thirty-eight percent (10 of 26) of sibs were affected. A three-compartmental penetrance model was devised to account for the variation in expression with age. This includes a latent stage (time before onset of signs), an affected stage, and a stage in which the subjects are withdrawn (because of treatment, regression, or death). The implications of this model are discussed.

Original language	English (US)
Pages (from-to)	967-972
Number of pages	6
Journal	American Journal of Medicine
Volume	74
Issue number	6
DOIs	https://doi.org/10.1016/0002-9343(83)90791-X
State	Published - 1983
Externally published	Yes

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Strahan, N. V., Murphy, E. A., Fortuin, N. J., Come, P. C., & Humphries, J. O. N. (1983). Inheritance of the mitral valve prolapse syndrome. Discussion of a three-dimensional penetrance model. American Journal of Medicine, 74(6), 967-972. https://doi.org/10.1016/0002-9343(83)90791-X

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abstract = "The families of 12 probands with classic mural valve prolapse were studied for evidence of mitral valve prolapse. Seventy parents, sibs, and progeny were included in the analysis. Forty-seven percent (16 of 34) of progeny were affected compared with 30 percent (3 of 10) of parents. Thirty-eight percent (10 of 26) of sibs were affected. A three-compartmental penetrance model was devised to account for the variation in expression with age. This includes a latent stage (time before onset of signs), an affected stage, and a stage in which the subjects are withdrawn (because of treatment, regression, or death). The implications of this model are discussed.",

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AU - Humphries, J. O Neal

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10.1016/0002-9343(83)90791-X