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Biggest SA medical breakthrough "since first heart transplant"

A new gene has been discovered, that is seen as a major cause of sudden death among young people and athletes.

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South African medical researchers, through a global collaboration, have identified the new gene called CDH2.

CDH2 causes Arrhythmogenic Right Ventricle Cardiomyopathy (ARVC), a genetic disorder that leads to cardiac arrest.   

"This is probably the biggest breakthrough in South African cardiology since Dr Chris Barnard's first heart transplant," says Professor Bongani Mayosi, Dean of the Faculty of Health Sciences at the University of Cape Town (UCT). 

"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," he adds.

According to country estimates, sudden cardiac death claims the lives of more than five young South Africans per day.  

"When pioneering medical researchers make discoveries such as this, it enables us to innovate to find easy ways to detect the gene or diagnose ARVC and find ways to prevent sudden death in young South Africans," says Professor Glenda Gray, President and CEO of the South African Medical Research Council (SAMRC). 

"This collaborative research is what we relentlessly seek to fund, because it directly translates into finding ways to save lives in South Africa," says Gray.


This discovery, published today in the prestigious journal Circulation: Cardiovascular Genetics, was made from a South African family affected by ARVC and is as a result of an international collaboration which began 15 years ago.  

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