05/23/2018 20:41 EDT | Updated 05/23/2018 20:41 EDT

Research Team Awarded For Finding Cause Of 'Newfoundland Curse'

The condition can be deadly.

ST. JOHN'S, N.L. — A research team was honoured Wednesday for identifying the cause of the "Newfoundland curse" — a deadly heart condition that has afflicted Newfoundland families for centuries.

The condition, known to the medical community as arrhythmogenic right ventricular cardiomyopathy, is a genetic cardiac muscle disorder that often shows no symptoms before sudden cardiac arrest.

Rich Blenkinsopp, Memorial University of Newfoundland/Canadian Press
Sean Connors, left to right, Kathy Hodgkinson, Terry-Lynn Young and Daryl Pullman are seen in this undated handout photo.

A team from Memorial University of Newfoundland received the Governor General's Innovation Award for leading research that identified the genetic mutation and the cause of the lethal heart attacks.

The team also developed a blood screening test for people at risk.

"It really is a life-saving kind of research endeavour," said Daryl Pullman, who is being honoured along with fellow researchers Terry-Lynn Young, Kathy Hodgkinson and Sean Connors.

"We're accepting the award on behalf of many others, on behalf of the many families who have participated, coming forward to donate their samples and their histories."

Mutation is concentrated in Newfoundland

ARVC affects people worldwide, but there is a concentration in Newfoundland, where the mutation has already been specifically linked to more than two dozen families.

Many people with the condition feel perfectly healthy before the first fatal heart attack.

Eighty per cent of men and 20 per cent of women with ARVC die by age 50. Pullman said it has claimed the lives of men in their late teens and early twenties.

As well as developing a blood test to detect the previously hidden condition, the team also developed a preventative treatment for the disease.

Connors, a cardiologist, developed a small defibrillator to be inserted into the heart that can recognize abnormal rhythms and restore the heart to its regular pattern before a heart attack can happen.

Two decades of work

Pullman said the award recognizes work that began two decades ago.

Hodgkinson was working with families in Newfoundland and Labrador, collecting their blood samples and family stories, when she learned that similar research had already begun. Researchers from Texas had visited the province and left with blood samples and personal medical information, but never reported back with their findings.

Pullman, a medical ethics professor, came on board to tackle the ethical oversight aspect of the project. He helped create unique legislation in Newfoundland and Labrador that requires all medical research done in the province to be reviewed locally.

"It was a major issue for us in Newfoundland. Researchers were coming from outside the province, taking valuable information with them, but not sharing it with local people," said Pullman.

The Memorial University findings are being shared with medical practitioners in other parts of the world where the cause of ARVC has long baffled families and physicians.

More questions left to answer

Pullman says there are still more pieces of the puzzle to figure out. For example, it's still unknown why women are less severely affected than men, despite carrying the same genetic mutation.

But Pullman is hopeful that further research will uncover more of the science behind this longstanding medical mystery, and lead to more lives saved.

"You hear a story about a single vehicle accident on a nice clear summer day, a car went off the road for no apparent reason, and the driver's dead, and I immediately wonder, 'I wonder if that's ARVC, that's some person who has this condition,'" said Pullman.

"So there's still work to be done."

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