Nav: Home

Penn researchers identify cause of heart failure in pregnant women

January 06, 2016

PHILADELPHIA - Each year approximately 1 in 1,000 pregnant women will experience peripartum cardiomyopathy, an uncommon form of often severe heart failure that occurs in the final month of pregnancy or up to five months following delivery. But the cause of peripartum cardiomyopathy has been largely unknown - until now. Researchers from the Perelman School of Medicine at the University of Pennsylvania analyzed the genetic variants that have been associated with another form of inherited cardiomyopathy, and determined that peripartum cardiomyopathy is often the result of a genetic mutation. The findings of this study are detailed in this week's New England Journal of Medicine.

Researchers analyzed 43 genes in 172 women who experienced peripartum cardiomyopathy, and found that 15 percent of the group had genetic mutations, usually in their TTN gene, which encodes the instructions for making the Titin protein. This protein--named after the Greek gods, Titans--is the largest protein in the body and directly affects the heart's ability to contract and relax. Of the women analyzed, 26 were identified to have mutations on the TTN gene, an effect that is significantly higher than any other reported finding for the cause of peripartum cardiomyopathy.

"Until now, we had very little insight into the cause of peripartum cardiomyopathy," said the study's senior author, Zoltan Arany, MD, PhD, an associate professor of Cardiovascular Medicine. "There had been theories that it was linked to a viral infection, or paternal genes attacking the mother's circulatory system, or just the stresses of pregnancy. However, this research shows that a mutation in the TTN gene is the cause of a significant number of peripartum cardiomyopathies, even in women without a family history of the disease."

This sizable percentage indicates that peripartum cardiomyopathy is caused by genetic mutations. The same mutations are also present in many who experienced dilated cardiomyopathy, a condition in which the heart's ability to pump blood is decreased when the main pumping chamber becomes weak and enlarged. This is similar to peripartum cardiomyopathy but most often occurs in older patients. However, the two diseases are not the same. For example, a woman with the genetic mutation for dilated cardiomyopathy will not always experience peripartum cardiomyopathy, and women with the peripartum cardiomyopathy mutation will not always experience dilated cardiomyopathy later in life. How the same mutations can lead to different conditions in different people remains an unanswered question.

Arany added, "these findings will certainly inform future peripartum cardiomyopathy research, with possible implications on genetic testing and preventive care. Though, more research is unquestionably needed. We're continuing to follow these women and we're gathering data for hundreds of others around the world, with the goal of identifying the cause of peripartum cardiomyopathy in the remaining 85 percent of women with this condition, and ultimately using what we learn to improve the care of these women and their newborns."
-end-
Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania(founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $5.3 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 17 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $409 million awarded in the 2014 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center -- which are recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report -- Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2014, Penn Medicine provided $771 million to benefit our community.

University of Pennsylvania School of Medicine

Related Pregnancy Articles:

Are women using e-cigarettes during preconception and/or pregnancy?
A new study of 1,365 racially/ethnically diverse, low-income pregnant women found that 4% reported e-cigarette use.
A better pregnancy test for whales
To determine whale pregnancy, researchers have relied on visual cues or hormone tests of blubber collected via darts, but the results were often inconclusive.
Cannabis use during pregnancy
The large health care system Kaiser Permanente Northern California provides universal screening for prenatal cannabis use in women during pregnancy by self-report and urine toxicology testing.
Questions and answers about cannabis use during pregnancy
A new study shows that women have many medical questions about the use of cannabis both before and during pregnancy, and during the postpartum period while breastfeeding.
The effect of taking antidepressants during pregnancy
Exposure to antidepressants during pregnancy and the first weeks of life can alter sensory processing well into adulthood, according to research in mice recently published in eNeuro.
Is ivermectin safe during pregnancy?
Is it safe to give ivermectin to pregnant women? To answer this question, researchers from the Barcelona Institute for Global Health (ISGlobal), an institution supported by 'la Caixa,' conducted a systematic review and meta-analysis of studies that reported cases of accidental exposure to the drug among pregnant women.
Going to sleep on your back in late pregnancy
This study looked at whether going to sleep on your back in the third trimester of pregnancy was associated with average lower birth weights.
Opioid use disorder in pregnancy: 5 things to know
Opioid use is increasing in pregnancy as well as the general population.
Medical imaging rates during pregnancy
Researchers looked at rates of medical imaging (CT, MRI, conventional x-rays, angiography, fluoroscopy and nuclear medicine) during pregnancy in this observational study that included nearly 3.5 million pregnant women in the United States and Canada from 1996 to 2016.
New research on diet and supplements during pregnancy and beyond
The foods and nutrients a woman consumes while pregnant have important health implications for her and her baby.
More Pregnancy News and Pregnancy Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Clint Smith
The killing of George Floyd by a police officer has sparked massive protests nationwide. This hour, writer and scholar Clint Smith reflects on this moment, through conversation, letters, and poetry.
Now Playing: Science for the People

#562 Superbug to Bedside
By now we're all good and scared about antibiotic resistance, one of the many things coming to get us all. But there's good news, sort of. News antibiotics are coming out! How do they get tested? What does that kind of a trial look like and how does it happen? Host Bethany Brookeshire talks with Matt McCarthy, author of "Superbugs: The Race to Stop an Epidemic", about the ins and outs of testing a new antibiotic in the hospital.
Now Playing: Radiolab

Dispatch 6: Strange Times
Covid has disrupted the most basic routines of our days and nights. But in the middle of a conversation about how to fight the virus, we find a place impervious to the stalled plans and frenetic demands of the outside world. It's a very different kind of front line, where urgent work means moving slow, and time is marked out in tiny pre-planned steps. Then, on a walk through the woods, we consider how the tempo of our lives affects our minds and discover how the beats of biology shape our bodies. This episode was produced with help from Molly Webster and Tracie Hunte. Support Radiolab today at Radiolab.org/donate.