SA doctors lead medical breakthrough

In what has been hailed the “biggest breakthrough in South African cardiology since Dr Chris Barnard’s first heart transplant” nearly 50 years ago, South African and Italian medical researchers have identified a gene that is a major cause of sudden death among young people and athletes.

GOOD NEWS: SA medical breakthrough in cardiology

“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,” UCT Health Sciences faculty Dean Professor Bongani Mayosi said, adding it had taken 20 years for the breakthrough to be made.“Today is a significant occasion in the history of science and the history of cardiology in this country. Heart disease is a major killer therefore, finding the origins of heart disease is a fundamental task of science,” he said

The gene, called CDH2, causes arrhythmogenic right ventricle cardiomyopathy (ARVC), a genetic disorder that predisposes young people to cardiac arrest.

 Notable cases of ARVC include Sevilla Football Club and Spanish international left wing Antonio Puerta who died from the condition, at the age of 22, in 2007. Puerta collapsed and lost consciousness on the field from cardiac arrest.

English professional footballer Matt Gadsby also died from the condition after collapsing on the pitch in 2006, aged 27.

According to estimates, sudden cardiac death claims the lives of more than five young South Africans a day. In Italy, about 50 000 people die suddenly every year.

In ARVC, the heart muscle tissue is replaced by fatty and fibrous tissue. This encourages the development of an abnormal heart rhythm such as rapid heart rhythm or rapid and erratic heart rhythm, that causes loss of consciousness and cardiac arrest. In the case of ventricular fibrillation, without a ready device to shock the heart, it causes sudden death in a few minutes.

One whole genome in a cell contains at least 19 000 genes. A disease causing variant in a gene called CDH2 in a family with arrythmogenic
right ventricular cardiomyopathy identified.

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