Faulty gene can lead to fatal cardiac arrest

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A FAULTY gene can cause abnormal heart rhythms during exercise leading to cardiac arrests in fit and healthy young people, new research has found.

The heart has a regular electrical impulse that causes it to beat and pump blood around the body but if this is interrupted then it causes an abnormal heartbeat, called an arrhythmia.

These dangerous heart rhythms can cause sudden cardiac arrests, which take the lives of seemingly healthy young men and women.

More than 1500 Scots died in the community in 2013 after suffering a cardiac arrest, including talented 13-year-old footballer Jamie Skinner, who had a fatal cardiac arrest while making his debut for Tynecastle FC at Saughton.

Experts from Manchester University, funded by the British Heart Foundation (BHF), will present research to the British Cardiovascular Society Conference today on their discovery of a faulty calcium channel in heart cells which can lead to a rare but potentially fatal heart condition called CPVT (catecholaminergic polymorphic ventricular tachycardia).

The channel should open and shut to let calcium regularly into the heart cells, kicking off the required electrical impulse for the heart to 
beat.

During exercise, adrenaline is released which increases the amount of calcium stored in the cells. But when someone has the faulty gene, this channel can stay open for too long, making it leaky and flooding the heart cells with calcium which causes a fatal 
arrhythmia.

Professor David Eisner, from Manchester University, who led the research, said: “People who are prone to sudden arrhythmias often die young.

“A better understanding of what goes wrong inside the heart during an arrhythmia is crucial to finding the genes that can cause abnormal heart rhythms, and developing better treatments for people at risk of the tragedy of sudden cardiac death.”

Clinicians from 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 wants to know if everyone with the faulty gene develops an arrhythmia or if there are other genes involved.

Sudden cardiac arrests can affect people of all ages, as every week in the UK, 12 apparently fit and healthy young people aged 35 and under die from undiagnosed cardiac 
conditions.

Liberton High School pupil Jamie showed no signs that underneath his super-fit physique was an enlarged heart, possibly caused by a genetic defect or a childhood virus.

His family has channelled its grief into setting up the Jamie Skinner Foundation, joining forces with the Evening News for our Shockingly Easy campaign, which aims to install defibrillators in sports clubs across the Lothians.