Page URL:

Researchers find gene linked to rare heart condition in pregnancy

27 June 2011
Appeared in BioNews 613

A genetic mutation has been associated with a rare and potentially serious heart condition called peripartum cardiomyopathy (PPCM) that can affect woman before, during or shortly after childbirth. Researchers say the findings could lead to the development of diagnostic tests for PPCM.

'Until now, no one has identified a genetic link to the disease', said Dr Benjamin Horne, director of cardiovascular and genetic epidemiology at Intermountain Medical Center (ICM) in Utah, US, and lead researcher of the study. 'This gives us and other researchers a roadmap that tells us where to look in the human genome for more information about the disease', he said.

The team took DNA samples for 41 women who had been affected by PPCM and found that almost two-thirds showed a genetic mutation on chromosome 12. The researchers concluded that women with the condition were around two-and-a-half times more likely than healthy women to carry the genetic mutation.

'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'.

Peripartum cardiomyopathy (PPCM) is a condition which prevents the heart from pumping enough blood and can lead to cardiac arrest. 'The heart becomes overloaded, it is trying to pump blood out of the heart, into the rest of the body and it is having a tough time getting enough out there', explained Dr Horne.

'Someday [the findings] may lead to early testing during pregnancy that can identify women who are at risk for PPCM. We may be able to reduce or even prevent some of the complications of this disease', he said.

The study was published in Circulation: Cardiovascular Genetics.

Genetic link to rare heart failure
Pakistan Observer |  24 June 2011
Genome-wide Significance and Replication of the Chromosome 12p11.22 Locus Near the PTHLH Gene for Peripartum Cardiomyopathy
Circulation: Cardiovascular Genetics |  10 June 2011
Researchers identify genetic mutation linked to heart failure in pregnant women
Deseret News |  20 June 2011
Researchers in Utah find first genetic mutation linked to heart failure in pregnant women
ABC 4 |  20 June 2011
Utah study finds genetic link to rare heart failure in pregnant women
Salt Lake Tribune |  20 June 2011
3 October 2011 - by Emma King 
My Beautiful Genome is the story of DNA told through one woman's quest to find out if the secret to her depression lies in her genes...
8 August 2011 - by Suzanne Elvidge 
Imagine getting to immigration and struggling to get into a country, not because you don't have a passport or legal status, but because you have no fingerprints. People with adermatoglyphia, also known as 'immigration delay disease', have missing fingerprints from birth, and have reduced levels of sweat glands in their skin. Researchers now think they have isolated the genetic mutation behind this rare disorder....
14 March 2011 - by MacKenna Roberts 
An international research consortium has discovered 13 new genetic markers and confirmed ten previously identified markers associated with heart disease. The study, one of the world's largest, more than doubles the known genetic risk factors for coronary artery disease, a common cause of heart attacks and strokes....
11 October 2010 - by Matthew Smart 
Researchers in the US have shown that a gene-based test designed to predict the risk of Coronary Artery Disease (CAD) is only marginally better than existing methods....
8 March 2010 - by Dr Rachael Panizzo 
A genetic risk score based on several genetic markers associated with cardiovascular disease (CVD) does not improve the prediction of CVD risk, research published in the Journal of the American Medical Association has suggested...
16 February 2009 - by Rosie Beauchamp 
It may soon be possible to use a simple blood test to identify whether you are at greater risk of suffering from a heart attack. Two recent studies have revealed new insights into the connection between specific genetic variants and the increased risk of heart disease. Firstly...
14 November 2005 - by BioNews 
A gene variation linked to an increased risk of heart attack has a much greater effect in African Americans than in people of European descent, say researchers based at Icelandic biotech firm deCODE Genetics. The team, who published their findings early online in the journal Nature Genetics, has shown that...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.