Featured Research

from universities, journals, and other organizations

First genetic mutation linked to heart failure in pregnant women

Date:
June 21, 2011
Source:
Intermountain Medical Center
Summary:
Researchers 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.

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.

Related Articles


The disease, peripartum cardiomyopathy (PPCM), weakens a woman's heart so that it no longer pumps blood efficiently. The disease is relatively rare, affecting about one in 3,000 to 4,000 previously healthy American women. Most PPCM patients are treated with medicine, but about 10 percent require a heart transplant or mechanical heart-assist device to survive. The cause of PPCM has been unknown.

"This is an important breakthrough," said Benjamin Horne, PhD, director of cardiovascular and genetic epidemiology at Intermountain Medical Center and lead researcher for the study, which has just been published in the online edition of Circulation: Cardiovascular Genetics and will soon appear in the print edition of the journal.

"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 Dr. 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."

The research team gathered DNA samples at Intermountain Medical Center from 41 women in their 20s and 30s who had suffered from PPCM. They also took samples from 49 women who were over age 75 and had never experienced cardiac problems. The samples were sent for testing to a lab in Iceland, which used a special credit-card size device covered with 550,000 tiny dots of protein that, when mixed with human DNA, can isolate genetic mutations.

"The initial testing was a fishing expedition," said Dr. Horne. "We didn't know what genes or mutations in the human genome lead to PPCM, so we were just going to test anything out there and see what popped up," he said.

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. This time, a second control group of younger women was also evaluated. 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 Dr. 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 Dr. Horne. "That gene has been shown to be involved in regulating blood pressure and muscle contraction in the uterus and the heart."

The research group from Intermountain Medical Center is already moving forward with new studies that aim to build on this discovery and help women who develop this devastating condition.

Other lead researchers on the project included cardiologists Abdallah Kfoury, MD, and Rami Alharethi MD, and nurse practitioner Kismet Rasmusson, all from Intermountain Medical Center. Almost 20 researchers were involved, primarily from Intermountain's Heart Institute but also from Intermountain's Maternal Fetal Medicine program, the University of Utah, and the VA Hospital.

This study was supported in part by grants from the R. Harold Burton Foundation and the Deseret Foundation.


Story Source:

The above story is based on materials provided by Intermountain Medical Center. Note: Materials may be edited for content and length.


Journal Reference:

  1. B. D. Horne, K. D. Rasmusson, R. Alharethi, D. Budge, K. D. Brunisholz, T. Metz, J. F. Carlquist, J. J. Connolly, T. F. Porter, D. L. Lappe, J. B. Muhlestein, R. Silver, J. Stehlik, J. J. Park, H. T. May, T. L. Bair, J. L. Anderson, D. G. Renlund, A. G. Kfoury. Genome-wide Significance and Replication of the Chromosome 12p11.22 Locus Near the PTHLH Gene for Peripartum Cardiomyopathy. Circulation: Cardiovascular Genetics, 2011; DOI: 10.1161/CIRCGENETICS.110.959205

Cite This Page:

Intermountain Medical Center. "First genetic mutation linked to heart failure in pregnant women." ScienceDaily. ScienceDaily, 21 June 2011. <www.sciencedaily.com/releases/2011/06/110621141853.htm>.
Intermountain Medical Center. (2011, June 21). First genetic mutation linked to heart failure in pregnant women. ScienceDaily. Retrieved January 31, 2015 from www.sciencedaily.com/releases/2011/06/110621141853.htm
Intermountain Medical Center. "First genetic mutation linked to heart failure in pregnant women." ScienceDaily. www.sciencedaily.com/releases/2011/06/110621141853.htm (accessed January 31, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, January 31, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

CDC: Get Vaccinated for Measles

CDC: Get Vaccinated for Measles

Reuters - US Online Video (Jan. 30, 2015) The CDC is urging people to get vaccinated for measles amid an outbreak that began at Disneyland and has now infected more than 90 people. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Obama To Outline New Plan For Personalized Medicine

Obama To Outline New Plan For Personalized Medicine

Newsy (Jan. 30, 2015) President Obama is expected to speak with drugmakers Friday about his Precision Medicine Initiative first introduced last week. Video provided by Newsy
Powered by NewsLook.com
NFL Concussions Down; Still on Parents' Minds

NFL Concussions Down; Still on Parents' Minds

AP (Jan. 30, 2015) The NFL announced this week that the number of game concussions dropped by a quarter over last season. Still, the dangers of the sport still weigh on players, and parents&apos; minds. (Jan. 30) Video provided by AP
Powered by NewsLook.com
U.S. Wants to Analyze DNA from 1 Million People

U.S. Wants to Analyze DNA from 1 Million People

Reuters - US Online Video (Jan. 30, 2015) The U.S. has proposed analyzing genetic information from more than 1 million American volunteers to learn how genetic variants affect health and disease. Rough Cut (no reporter narration). Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins