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  • Peripartum heart condition could have genetic link

    Author: AAP

Researchers have found a genetic link to a condition which can lead to a woman developing heart failure in late pregnancy or shortly after delivery.

The cause of a life-threatening condition that can lead to heart failure in pregnant women could be genetic, a global study has found.

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Peripartum cardiomyopathy (PPCM) can lead to a woman developing heart failure in late pregnancy or shortly after delivery. It affects up to 700 women in the UK every year, but there has previously been no clear explanation for its cause.

But Royal Brompton Hospital and Penn Cardiovascular Institute in the USA have published new findings showing a sequence of key gene variants in women with the condition.

Already known risk factors include pre-existing hypertension and pre-eclampsia, and most common symptoms of the condition are breathlessness and palpitations. While these can usually be treated with drugs, in the most severe cases a heart transplant can be the only long-term option.

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Researchers set out to determine whether the condition is linked to the genetic mutations responsible for a condition called dilated cardiomyopathy (DCM), which shares similarities with PPCM. These include heart enlargement, drop in heart function, and even sudden death.

One in five cases are caused by variants a gene known as TTN.

Researchers used a sample of 172 women with PPCM from six centres across the world, 332 people with DCM in the UK and 60,000 control subjects, and compared the prevalence of variants in 43 genes.

Around 15 per cent of PPCM patients were found to carry variants that disrupted important heart genes. This was significantly higher than the controls but similar to the patients with DCM (17 per cent). In particular, 10 per cent of women with PPCM had mutations of the TTN gene, compared with just 1.4 per cent of the controls.

This evidence suggests that PPCM can have very similar genetic characteristics to DCM, with variants of the TTN gene found to be the most prevalent genetic disposition of each disease.

Experts say the results have implications for the way the condition is treated in future and could save lives.

James Ware, consultant cardiologist at Royal Brompton & Harefield NHS Foundation Trust and lead author of the research paper, said: "Our findings explain why a significant number of PPCM cases occur. When we looked at cases without the known risk factors we found a lot of genetic abnormalities. For example, a quarter of patients without hypertension had TTN gene mutations.

"PPCM has a mortality rate of five to 10 per cent, 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."

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