A genetics research team that helped to identify the gene responsible for a devastating heart condition known as the “Newfoundland Curse” has just lowered the age for testing for the disease.
The gene has been linked to a single pair in Newfoundland who likely arrived sometime in the 1700s. Descendants who carry the defective gene have a 50/50 chance of passing that gene on to their children.
Dr. Christina Templeton and Dr. Kathleen Hodgkinson spoke on On Target St. John’s with Linda Swain. Listen below:
The first symptom of ARVC (Arrhythmogenic right ventricular cardiomyopathy) is often sudden death, and while both men and women can carry the gene, it affects men more profoundly and at an earlier age.
Generally, testing for the gene was conducted in a person’s late teens or early 20s, but that’s now changed.
Pediatric cardiologist, Dr. Christina Templeton says they’ve discovered that heavy physical activity at a young age affects people who carry the gene and testing is now occurring at an earlier age.
That doesn’t mean to say they can’t pursue sports at all, but it’s more likely that they’ll play in a rec league rather than high-level competitive sport.
She says the impact of telling a teen they are no longer able to pursue a life of competitive sport if they are already involved can be devastating. Templeton outlined the worst-case scenario from a pediatric perspective.
“A 16-year-old, who has been a competitive hockey player their entire childhood and adolescence…and we have to say you can’t do this, it’s dangerous.” Not only do they lose the sport, says Templeton, but they also lose their entire social structure and everything that is important to them. That is a scenario they want to avoid.
