New research could help explain cause of heart condition
ANEW genetic discovery could explain the cause of a mysterious and potentially deadly heart condition which affects women during or just after pregnancy.
The findings, presented at the British Cardiovascular Society conference in Manchester, could help doctors identify and treat women who are at risk.
Hundreds of women are diagnosed with peripartum cardiomyopathy (PPCM) in the UK every year, with an estimated death rate as high as 50%.
PPCM is characterised by the enlarging of the heart around the time of childbirth. This reduces the heart’s ability to pump blood around the body properly, a condition known as heart failure.
The researchers looked at the genes of 172 women diagnosed with PPCM.
They compared these genes with the corresponding genes found in people with similar forms of inherited heart muscle disease, and found that in 26 women there were mutations that were very similar to those found in the inherited heart condition of dilated cardiomyopathy (DCM).
The researchers believe the findings could lead to genetic testing to identify women with PPCM, and to surveillance and treatment, where necessary, for women with the faulty genes.
Pregnancy places a strain on the heart, as the heart rate increases and the volume of blood pumped around the body per minute increases by 50%.
This makes normal pregnancy a challenge for the cardiovascular system, and in some previously healthy women the heart cannot cope.
Dr James Ware, consultant cardiologist at Royal Brompton and Harefield NHS Foundation Trust and clinical senior lecturer in Genomic Medicine at the MRC’s Clinical Science Centre (CSC) at Imperial College, who presented the research at the BCS conference, said: “This paper is really encouraging. DCM is managed as an inherited condition: first degree relatives of affected individuals are offered genetic screening. Our results suggest that genetic diagnostics and family management may have similar value in PPCM.
“PPCM can be fatal, so being able to shed light on why it occurs in some women and not others is an important development and could ultimately save lives. Further research is needed to better understand the value of genetic information in determining the prognosis of PPCM.”
Professor Jeremy Pearson, Associate Medical Director at the British Heart Foundation, said: “The cause of PPCM has been long-disputed by medical professions, with various different theories having been put forward over the years but with little evidence to support them.
“The findings that our genes can be involved could be critical, and may open doors to develop preventative treatment in the future and ultimately save lives.”
Deborah Coleman, 56, had a cardiac arrest while her son, Cameron, was being born by emergency caesarean section in 1994.
She woke up two days later in a different county, and was diagnosed with PPCM. Her son, Cameron, has since been diagnosed with DCM.
Deborah said: “I had the baby in Swindon and I woke up in Oxford. Unbeknown to me I had been on life support in Swindon for 18 hours.
“When I woke up there was a doctor at the end of my bed saying, ‘You’ve had a cardiac arrest’. And I said ‘No, you’ve got the wrong patient. I have had a baby.’ I was completely bewildered.
“At first it was very scary. I thought – is this going to happen again? Could I have another cardiac arrest? As soon as they realised what was wrong with me they said they would check both boys. They were tiny. Drew was clear but Cameron was diagnosed as a baby with a cardiomyopathy.
“I take medication for my condition, but Cameron doesn’t need any treatment at the moment. Fortunately, so far, it hasn’t really affected us too much. I do get tired and out of breath in the evenings but if anything it has given me an even bigger zest for life.”
The study follows collaboration between researchers at centres around the world, including Royal Brompton Hospital in London, and Harvard Medical School and Perelman School of Medicine at the University of Pennsylvania in the US.