Pregnant Heart Gene

Wednesday, June 22, 2011 - 9:45am

Researchers discover a gene that signals a risk of deadly heart disorder in expectant or new mothers.

Researchers at Intermountain Medical Center (IMC) have made a groundbreaking discovery that they believe will save the lives of some expectant or new mothers.

For one in about 4-thousand previously healthy American women, a potentially deadly disease affects them in the final weeks of pregnancy or the first few months after delivery.

It's called peripartum cardiomyopathy, or PPCM.

"What happens during PPCM is that the heart becomes overloaded, trying to pump blood out of the heart into the rest of the body and having a hard time getting enough out there," explained Dr. Benjamin Horne, director of cardiovascular research at IMC, "The heart starts working harder. Of course, when you work a muscle harder than it's used to, then it expands; and that's what happens, the heart becomes enlarged and there's not enough room inside the ribcage."

Researchers at the IMC Heart Institute have identified the first genetic mutation by testing women in their 20s and 30s who have PPCM with older women who never experienced cardiac problems.

Three sets of tests confirmed that the women with PPCM were about two-and-a-half times more likely to carry the genetic mutation. In the world of medicine, it is considered a significant finding.

The mortality rate is about 3 percent; however, these are young women with babies. IMC researchers hope their study will prevent those deaths or the need for invasive surgeries.

"In our study we found that 10 percent of the PPCM cases either went on to have a mechanical device to support their heart or even a heart transplant," Horne said.

The researchers from IMC are already moving forward with more studies. They expect genetic testing to come from their findings.

Horne says medications will reduce or prevent complications for most who have this disease.

"After they become pregnant and they are seeing their physician for their pre-delivery care, then they could get a genetic test. One of the lines of research we're following up now is to see if whether it would be worthwhile to implement a genetic test," he said.

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