Montreal Researchers in Newfoundland have cracked the genetic code of a sudden death cardiac killer.
As a result, they have developed a unique prevention program in which people with no symptoms, but with a suspect gene and a family history, are being implanted with internal cardiac defibrillators (ICDs) which can restart their hearts if they stop.
"Our discovery has led to a targeted genetic screening and individualized therapy that is significantly improving survival rates," Dr. Sean Connors told the Canadian Cardiovascular Congress 2010, co-hosted by the Heart and Stroke Foundation and the Canadian Cardiovascular Society. "It's allowing people with the condition to live normal, longer lives. Individualized genetic therapies like this are the future of medicine."
The excitement among cardiologists concerns a rare genetic condition arrhythmogenic right ventricular cardiomyopathy (ARVC).
"Newfoundlanders likely have the highest incidence in the world of this disease," Dr. Connors, a cardiologist and associate professor of medicine at Memorial University in Newfoundland, told the Congress.
The term arrhythmogenic refers to deadly cardiac rhythms that can be triggered by electrical impulses within the heart. Cardiomyopathy is a worsening condition where heart muscle is slowly replaced by scar and fat tissue.
The combination of the two is lethal, Dr. Connors says.
"People who are at risk often have no symptoms, so the first time we know they have this disease is when they die."
The surest sign that a disease is genetic in origin is when it is manifests itself in family histories, showing up in generation after generation.
"Our diagnostic testing showed that some members of these families have a specific, genetic, electrocardiogram (ECG) mutation ARVD5," said Dr. Connors. There is a 50 per cent chance that children of those with the condition
|Contact: Jane-Diane Frasr|
Heart and Stroke Foundation of Canada