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Circulation Cardiovascular Genetics
Article . 2017 . Peer-reviewed
Data sources: Crossref
Circulation Cardiovascular Genetics
Other literature type . 2019
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Inheritance Impacts Mitral Valve Insufficiency

Authors: Daniel P, Judge; Russell A, Norris;

Inheritance Impacts Mitral Valve Insufficiency

Abstract

As the field of cardiovascular genetics continues to evolve, traditional Mendelian disorders are more readily characterized by clinical genetic testing. These conditions are caused by rare DNA mutations with major effects for most, if not all carriers. The newest frontiers for genetic investigation include more common disorders in which the genetic variants are more prevalent and the effect sizes are smaller. The spectrum extends from severe neonatal disorders with high penetrance to more common diseases, such as familial mitral valve prolapse (MVP). Pushing this envelope, investigators in this issue of Circulation: Cardiovascular Genetics now report heritability of mitral regurgitation (MR).1 Starting with the well-characterized Framingham Heart Study participants in whom second- and third-generation cardiac data were available, they identified 1062 with ≥mild MR among 5132 (21%), in whom there was adequate parental and sibling information. The odds ratio of MR was 1.42 if parental MR was present after adjusting for age, sex, and risk factors and with restricting to ≥moderate MR. Likewise, the odds ratio of MR was 1.78 if sibling MR was present after adjusting for age, sex, and risk factors and restricting to ≥moderate MR. Strengthening their conclusions, the authors used the Swedish hospital registry to validate these findings. In Sweden, 1.2% (239 of 18 891) of siblings with sibling MR had MR compared with 0.2% (n=8389/5 138 298) without sibling MR, corresponding to a hazard ratio of 4.0 adjusted for age and sex. MR is more commonly seen in the context …

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Keywords

Sweden, Humans, Mitral Valve, Mitral Valve Insufficiency, Longitudinal Studies

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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