Gene that causes deadly heart condition identified: N.L. researchers

The genetic cause of a rare, deadly heart disease that's prevalent in Newfoundland and Labrador has been identified by researchers in the region. 

Arrhythmogenic right ventricular cardiomyopathy, or ARVC as it's known, runs in families around the world, though it exists in high proportion in Newfoundland and Labrador. What makes it deadly is that very often the first and only sign of the disease is a fatal heart attack.

Its victims are usually young people, often athletes.

A team at Memorial University in St. John's has discovered the gene mutation responsible for the problem, meaning doctors may be able to pinpoint who's at risk and be able to treat them.

"It's one of the most common causes of sudden death in athletes in Europe and probably here as well," Dr. Robert Hamilton, staff cardiologist at Toronto's Hospital for Sick Children, told CBC News. "It's just a matter of recognizing the disease."

Rosalie Cater, a Grand Falls-Windsor resident, said her mother's father, two sisters and brothers, as well as her own three brothers were affected by the disease.

"Terry was 43, Doug was 41 and Graham was 26. Everyone was wondering when something would happen next — like who was going to be the next one?" she said.

Slowly destroys heart

ARVC slowly destroys a person's heart, causing it to first beat irregularly and then suddenly stop.

Cater was diagnosed after her heart began to flutter and she blacked out.

Cater, who had a defibrillator surgically implanted in her chest to shock the heart back to normal when it begins to fail, always feared one of her three sons would be next.

"I used to go into their rooms and just make sure three of the boys were breathing — every single day. I mean you go to sleep with it, you wake up with it. It's constantly on your mind," she said.

Now, one of her sons has also had a defibrillator implanted.
 
Dr. Terry-Lynn Young, an ARVC researcher and the lead author of the study, has worked with other scientists to track down the genes involved in the disease.

"This is a novel finding. This gene has never been associated with human disease before and we didn't know it was at all involved in heart disease."

Young says that the gene mutation was present in all people with ARVC and that it was also present in 28.7 per cent without symptoms.

"There are many family members who will tell you that this is an awful curse," said Young. "One quote that was said to me is: 'We have always known that men don't last in our family.'"

The research published Thursday in the American Journal of Human Genetics revealed that more people will be able to obtain screening — and treatment — for the disease.
 
Researchers have developed a blood test that identifies who has this disease and say it will be available to everyone in a few months.

Cater doesn't have to look farther than her sons and grandchildren to see what it all means.

"When I look into their faces now ... you know, there's hope."