Advertisement

Study spots genetic mutations linked to rare heart disorder in pregnant women

Researchers have identified genetic mutations linked with a rare heart disorder in pregnant women, adding some explanation for why younger women develop a condition more typical of middle age. Photo by Free-Photos/Pixabay
Researchers have identified genetic mutations linked with a rare heart disorder in pregnant women, adding some explanation for why younger women develop a condition more typical of middle age. Photo by Free-Photos/Pixabay

April 20 (UPI) -- Genetics may explain why some younger women develop a heart ailment during pregnancy that is more typically found in middle-aged adults, according to a study published Tuesday by the journal Circulation.

Researchers at the University of Pennsylvania Perelman School of Medicine identified four genetic mutations that appear to put some otherwise healthy pregnant women at higher risk for peripartum cardiomyopathy, or weakness of the heart muscle.

Advertisement

The same team of researchers, in a study published in 2016, found 26 similar mutations linked with the rare disease, which begins sometime during the final month of pregnancy through five months after delivery.

The genetic profile of women with peripartum cardiomyopathy is similar to that of older adults with non-ischemic dilated cardiomyopathy, and both diseases can lead to severe heart failure, the researchers said.

RELATED Even a little daily caffeine during pregnancy may lead to smaller baby, study says

"Our findings indicate that peripartum cardiomyopathy strongly resembles dilated cardiomyopathy," study co-author Dr. Zoltan Arany told UPI in an email.

"There is a lot of research ongoing for therapies for dilated cardiomyopathy [and] our work indicates that whatever is discovered for [that condition] will apply to peripartum cardiomyopathy as well," said Arany, a professor of cardiology at the University of Pennsylvania in Philadelphia.

Peripartum cardiomyopathy affects women in one out of every 2,000 deliveries worldwide, and about a third of those women develop lifelong heart failure, according to the American Heart Association.

RELATED High blood pressure during pregnancy linked to shorter life span in study

Approximately 5% of women who suffer from peripartum cardiomyopathy die within a few years of delivery, the association estimates.

For this study, Arany and his colleagues analyzed the clinical records and DNA of nearly 470 women with peripartum cardiomyopathy diagnosed at several academic centers in the United States and abroad.

They performed a technique called next-generation sequencing, which analyzes DNA at the cellular level to search for mutations or defects, on 67 genes. This included a gene known as TTN, which generates a large protein that controls how heart muscle cells contract and pump blood.

RELATED Maternal diabetes increases obesity risk in children by age 10, study finds

Just over 10% of the study participants had evidence of mutations in the TTN gene, compared with a little over 1% of the general population, the data showed.

The analysis also identified three other genes not previously associated with peripartum cardiomyopathy, but linked with dilated cardiomyopathy in other studies.

Still, additional research is needed to determine how pregnancy triggers peripartum cardiomyopathy in some women with a specific genetic predisposition but not all, they said.

Arany said that women should "be aware that the condition exists, watch for its symptoms, and tell your doctor if you notice any of them," though he does not recommend genetic screening because many women with the mutations are unlikely to develop the disease.

"For women planning to become pregnant, or who are pregnant without symptoms, the message is more one of vigilance," Arany said.

Latest Headlines