NATIONAL NEWS - The discovery of a new gene that is a major cause of death among young people and athletes has been described as the biggest breakthrough since South African cardiologist Dr Chris Barnard’s first heart transplant 50 years ago. The breakthrough by two Eastern Cape-born doctors and a global team of scientists and researchers means cardiologists are now one step closer to preventing the untimely deaths of thousands of South Africans.
“This discovery is a first in the world – on our soil – and will permit the diagnosis and possible targeted treatment of heart muscle disease in the future,” Eastern Cape-born Professor Bongani Mayosi said. “This is only the beginning … the recognition [of the discovery] means we are still at base camp but with a licence to climb Everest,” he said, comparing the work which still lay ahead to climbing a mountain.
Mayosi and his team of global experts, including Mthatha-born cardiologist Dr Ntobeko Ntusi, found that the new gene, called CDH2, if mutated, caused Arrhythmogenic right ventricle cardiomyopathy (ARVC), a genetic disorder that predisposes young people to cardiac arrest.
It comes after Mayosi, the dean of medicine at the University of Cape Town (UCT), had a 15-year-old East London patient whose family has a history of sudden death referred to him by a colleague at Mount Frere Hospital in 2003.
It took him 20 years and many failed attempts before making the potentially life-changing discovery that the mutation of the CDH2 gene could cause sudden death.
The announcement yesterday coincided with the findings being published in the medical journal Circulation: Cardiovascular Genetics.
