Scientists have discovered a genetic link to the heart valve condition known as mitral valve prolapse.
Mitral valve prolapse (MVP), which occurs in 2.5 percent of the population, is a common heart problem that involves the mitral valve, one of the heart’s four gateways that keep blood flowing properly.
In people with MVP, the leaflets of the mitral valve are elongated. While this does not pose a problem in some people, in others it can lead to mitral regurgitation, or a “leaky” heart valve. Surgery is usually required to fix it.
A specific genetic cause of familial MVP had not been identified until now.
Investigators at Massachusetts General Hospital led an international collaboration effort that found mutations in a gene called DCHS1 in affected members of three families in which MVP is inherited.
The researchers believe their discovery, which is receiving advance online publication in the journal Nature, could lead to earlier identification of the condition and ways to keep the mitral valve healthy in people with a genetic predisposition.
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