Researchers find gene linked to rare heart condition in pregnancy

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.