Genetic cause for peripartum cardiomyopathy discovered

Scientists have successfully isolated the first genetic mutation to be associated with peripartum cardiomyopathy (PPCM), a heart condition affecting pregnant women.

A study conducted by the Intermountain Medical Center Heart Institute has identified a specific mutation on chromosome 12 that is two-and-a-half times more likely to be found among PPCM sufferers than healthy women.

PPCM is a rare condition that prevents the affected person's heart from pumping blood effectively, taking effect in the final weeks of pregnancy or the first few months after delivery for reasons unknown.

It is hoped that the discovery of this mutation, which influences a gene involved in regulating blood pressure and muscle contraction in the uterus and the heart, can inform future understanding of the condition.

Dr Benjamin Horne, director of cardiovascular and genetic epidemiology at Intermountain Medical Center, said: "This 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."

The three main types of cardiomyopathy are hypertrophic, dilated and arrhythmogenic right ventricular cardiomyopathy, with the British Heart Foundation noting that all three conditions can be inherited.