New gene behind young cardiac arrest announced

Monday March 13th, 2017

A leading heart specialist has welcomed news of the discovery of a fresh gene responsible for making young people vulnerable to cardiac arrest.

Researchers say the gene, CDH2, is responsible for arrhythmogenic right ventricle cardiomyopathy - ARVC.

South African, Italian and Canadian researchers have worked on the project over 15 years and published their findings in Circulation: Cardiovascular Genetics.

It involved a South African family affected by several cases of juvenile sudden death. The researchers studied 13,000 common genetic variants present in two patients.

Led by cardiologist Professor Bongani Mayosi, of the University of Cape Town, they went on to find a second mutation on the same gene in a patient from a different family.

British Heart Foundation medical director Professor Sir Nilesh Samani said that screening programmes would now need to include the new gene.

He said: “The discovery of this new gene as a cause of some cases of ARVC is an exciting step towards being able to better diagnose and treat people with this condition, before it’s too late.

"This discovery now needs to be recognised and identified in the screening process – which could possibly mean a change in the current screening guidelines for ARVC.

“Scientists have already identified some of the genes responsible for inherited heart conditions, like ARVC. However, many genes that cause these deadly diseases are still unknown and we urgently need to fund more research to make new discoveries that will save lives.”

Circulation: Cardiovascular Genetics 9 March 2017 [abstract]

Tags: Africa | Europe | Genetics | Heart Health | Infancy to Adolescence | North America | UK News

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