A new 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 mortality rate as high as 50 per cent,
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 per cent. This makes normal pregnancy a challenge for the cardiovascular system, and in some previously healthy women the heart cannot cope.
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.
