NEWS

The 20-Year Search Over A Family's Heartbreak Led To UCT's Heart Disease Genetic Breakthrough

A team of researchers from UCT has discovered a genetic mutation that causes sudden death from heart disease.

10/03/2017 09:46 SAST | Updated 10/03/2017 10:25 SAST
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Students at the University of Cape Town

An all-female team of researchers at the University of Cape Town (UCT) has discovered a genetic mutation which is the cause of sudden death in under-35s and athletes, in a discovery that experts say shows the country is "in par with international researchers".

The team was led by 30-year-old Maryam Fish of Lansdowne, along with Gasnat Shaboodien and Sarah Krause and researchers from Italy.

Their research was published in the journal Circulation: Cardiovascular Genetics on Thursday.

According to The Times, a genetic mutation of the gene CDH2 causes a genetic disorder called arrythmogenic right ventricle cardiomyopathy (ARVC), which increases the risk of cardiac arrest and heart disease.

Business Day quoted Professor Bongani Mayosi, dean of the faculty of health sciences at UCT saying:

"This is probably the biggest breakthrough in South African cardiology since Chris Barnard's first heart transplant... this discovery will permit the diagnosis and possible treatment of heart muscle disease in the future."

His team had been trying to figure out the cause of a South African family's ARVC for 20 years. They knew it affected at least five relatives.