Scientists have discovered how a genetic fault causes sudden cardiac death leading to hopes for a screening test to identify those at risk and eventually a drug to prevent it
17 March 2012: The medical team tending to Bolton Wanderers' Fabrice Muamba as manager Owen Coyle and Tottenham Hotspur's Benoit Assou-Ekotto and William Gallas look on
A test to identify those at risk of sudden cardiac death syndrome – the condition that nearly killed footballer Fabrice Muamba – could be developed after scientists discovered how the genetic fault causes the heart to stop.
Researchers at Cardiff University who discovered the cause of the fault now hope their discovery will lead to new drugs that can prevent the condition, which often hits young and seemingly healthy victims.
Most people have no idea they are at risk until their heart suddenly stops which is fatal in most cases.
Researchers at Cardiff University who discovered the cause of the fault now hope their discovery will lead to new drugs that can prevent the condition, which often hits young and seemingly healthy victims.
Most people have no idea they are at risk until their heart suddenly stops which is fatal in most cases.
Mr Muamba, the former Arsenel midfielder, nearly died on the pitch two years ago while playing for Bolton Wanderers when he suddenly collapsed and his heart stopped. He was rushed to hospital and recovered.
Now scientists have discovered that in some cases a specific genetic fault leads to an imbalance in the levels of calcium in heart muscle cells, causing a catastrophic disruption to the usual rhythm.
Prof Tony Lai, of the university's Sir Geraint Evans Wales Heart Research Institute, said the finding paves the way for further work to create a drug to compensate for this process.
"Certainly the identification of a specific genetic fault could lead to family members of someone affected being screened to check if they have this particular mutation.
Prof Tony Lai, of the university's Sir Geraint Evans Wales Heart Research Institute, said the finding paves the way for further work to create a drug to compensate for this process.
"Certainly the identification of a specific genetic fault could lead to family members of someone affected being screened to check if they have this particular mutation.
"It would help them because they could be told to avoid certain stressful situations and strenuous exercise that often precedes these events.
"The other potential approach would be to offer them an implantable defibrillator to shock them should their heart stop," he said.
Prof Lai added: "It needs more work but we are starting to unravel this very difficult disease that no one knows they have until they have a cardiac event. Potentially we could identify a candidate drug to modify and compensate for this effect."
However he said the faulty gene must be relatively rare so screening for it would need careful cost effectiveness evaluations and any drug to treat it would also run in to cost complications.
The faulty gene was discovered by scientists studying a single family where two children had died suddenly very young and two siblings had suffered cardiac arrests but survived.
It was found they were all carrying the same fault and so was their mother, who had not shown any symptoms.
Prof Lai said that other faulty genes were likely to be found in other families affected by sudden cardiac death.
Professor Jeremy Pearson, Associate Medical Director at the British Heart Foundation, said: “Keeping the heart’s calcium levels under control is critical to maintaining a healthy rhythm.
“By showing how calmodulin mutation could disrupt this and lead to sudden cardiac death, the Cardiff team have provided new clues for how to treat the condition in the future.
“Uncovering genetic links like this is vital to help combat the devastating effects of inherited heart conditions.
"The BHF is urgently campaigning for more research to help find the undiscovered faulty genes putting people at greater risk of heart disease.”
