Researchers at the Intermountain Medical Center Heart Institute have identified the first genetic mutation ever associated with a mysterious and potentially devastating form of heart disease that affects women in the final weeks of pregnancy or the first few months after delivery.
The disease, peripartum cardiomyopathy (PPCM), weakens a woman's heart so that it no longer pumps blood efficiently. The cause of PPCM has been unknown.
"This is an important breakthrough," said Benjamin Horne, director of cardiovascular and genetic epidemiology at Intermountain Medical Center and lead researcher for the study.
"Until now, no one has identified a genetic link to the disease. This gives us and other researchers a roadmap that tells us where to look in the human genome for more information about the disease," said Horne.
"Someday this may lead to early testing during pregnancy that can identify women who are at risk for peripartum cardiomyopathy. We may be able to reduce or even prevent some of the complications of this disease," added Horne.
The research team gathered DNA samples at Intermountain Medical Center from 41 women in their 20s and 30s who had suffered from PPCM.
To the group's surprise, the testing found that about two-thirds of the women with PPCM shared a genetic mutation on chromosome 12. So they performed a second round of testing in a different set of patients - again, one group of women with PPCM and a control group of older women who had never experienced heart problems. The results of the second round mirrored the first. So they did it again with a third healthy group of women.
In the end, all three sets of tests confirmed their first finding: Women with PPCM in the study were about two-and-a-half times more likely than healthy women to carry the genetic mutation. In the world of medicine and genetics, that's a significant finding, said Horne.
"It turns out that the mutation on chromosome 12 is located near a gene that is a good candidate for pregnancy-related cardiomyopathy," said Horne.
"That gene has been shown to be involved in regulating blood pressure and muscle contraction in the uterus and the heart," he added.
The study has been published in the online edition of Circulation: Cardiovascular Genetics.