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Faulty gene can trigger lethal arrhythmia

A faulty gene can cause fatal abnormal heart rhythms that are brought on by exercise, according to research presented at the British Cardiovascular Society (BCS) Conference held recently in Manchester, UK.

A faulty gene was identified in 2001, pointing to a calcium channel in heart cells not functioning as it should. 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. A research team from The University of Manchester, funded by the British Heart Foundation (BHF), has found that when someone has the faulty gene, this channel can stay open for too long, causing catecholaminergic polymorphic ventricular tachycardia (CPVT).

Professor Clifford Garratt and Dr Luigi Venetucci, 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.”

Professor David Eisner (the University of Manchester)

Professor David Eisner (the University of Manchester)

“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,” Professor Eisner added.

Daniel Whittaker, 29 from Rossendale in Lancashire, was diagnosed with CPVT after he went into a sudden cardiac arrest following years of unexplained blackouts. His diagnosis led to his family being tested and both his father and young daughter have now tested positive for the CPVT gene. He also lost his cousin at a young age from sudden cardiac death, which doctors now suspect was CPVT-related.

Daniel said: “I had an internal defibrillator fitted when I was 20, but they still didn’t know what was wrong with me. The defibrillator will shock my heart back into a regular heart rhythm if needed and this could save my life but it’s meant making some changes to my lifestyle. I used to be a runner in the youth GB squad, but I’ve had to stop training at such a high level because a high heart rate could set off my defibrillator and give me an electric shock.”

“Research like this meant that I could get genetic testing and a proper diagnosis for CPVT. It also meant that members of my family could get tested. Now that we know my dad and daughter both carry the CPVT gene and are at risk of a cardiac arrest, they’re getting the treatment they need to help stop that from happening,” Daniel added.

Published on: June 26, 2015

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