Researchers uncover how a faulty gene can trigger fatal heart condition

10 June 2015        

A detailed image of the heart on a black background Research presented today at the British Cardiovascular Society Conference has revealed how a faulty gene can cause fatal abnormal heart rhythms that are brought on by exercise. 

Dangerous heart rhythms called arrhythmias, often caused by undiagnosed heart conditions, can cause sudden cardiac arrests that take the lives of seemingly healthy young men and women, including sports people. Over one million people in the UK have been diagnosed with an arrhythmia and many more are thougth to still be undiagnosed.

New research

A research team that we fund from The University of Manchester, led by BHF Professor David Eisner, has found that when someone has a particular faulty gene, a calcium channel in the heart can stay open for too long, making it leaky. This causes a rare but potentially fatal heart condition called CPVT (catecholaminergic polymorphic ventricular tachycardia).

When someone exercises, adrenaline is released which increases the amount of calcium stored in the cells. If someone has CPVT and has these leaky channels, calcium can flood into the heart cells, causing a fatal arrhythmia. The leaky calcium channels might go completely unnoticed until this happens.

What does this mean for people with CPVT?

Clinicians in the team are working with the families of those who have died from sudden arrhythmic death syndrome (SADS) to determine if they are also at risk. As the gene is inherited, the team want to know if everyone with the faulty gene develops an arrhythmia or if there are other genes involved.

BHF Professor David Eisner from The University of Manchester, who led the research, said: “People who are prone to sudden arrhythmias often die young. Survivors may have an internal defibrillator fitted at a young age, to shock their heart back into a regular heartbeat if needed but the device does not last forever and needs replacing as the child or young person grows." 

Is it safe to exercise?

Professor Jeremy Pearson, our Associate Medical Director said: “Exercise is a vital part of maintaining a healthy heart and for the vast majority of people, it should be part of their daily routine but, for some people, exercise can trigger an underlying condition that they didn’t know they had. We know that screening doesn’t find everyone with the genes that can make them prone to sudden cardiac death and we urgently need more research to understand the causes of these rare, but potentially fatal, arrhythmias.”

Your donations allow us to fund world class research like this but we need the UK Government to do their bit. We’re calling on the UK Government to maintain the current ringfenced science budget and commit to future increases.