A Heartening Discovery

A South African team has pinpointed a gene that will help doctor’s identify those at risk of a serious heart condition

- Jane Vorster

THERE were times when she felt as if she were looking for a needle in a haystack. Standing in the lab late at night, Dr Maryam Fish sometimes thought she was never going to solve the mystery. She’d been searching for five years but kept reaching dead ends.

And then one day everything miraculously came together. The results from multiple experiments came in and they all pointed in one direction: to the CDH2 gene. All the evidence conclusively showed a link between this gene and a condition that cuts short thousands of young South African lives every year.

It’s being hailed as the biggest breakthrough in cardiology since Chris Barnard performed the world’s first successful heart transplant in Cape Town in 1967. For more than 20 years researchers at the University of Cape Town have been trying to identify the hereditary gene disorder responsible for arrhythmogenic right ventricular cardiomyopathy (ARVC), a disease of the heart muscle which increases the risk of sudden cardiac death in people under the age of 35.

The condition has ended the careers and in some cases even the lives of several star sportsmen. In 2007 the death of Spanish soccer star Antonio Puerta sent shockwaves around the world. At 22, the Spanish international winger looked as healthy as an ox. So everyone was stunned when he suddenly collapsed on the field during a match for Sevilla Football Club.

Last year England batsman James Taylor was forced to quit cricket at the tender age of 26 after being diagnosed with AVRC. The disease also prematurely ended the career of English premier league star Fabrice Muamba (now 28) in 2012.

But it’s not only sports stars who are affected by the condition – the South African Medical Research Council estimates that sudden cardiac death claims the lives of five young South Africans every day.