At about age nine or 10, Greg started passing out at the sudden sound of his alarm clock going off, she says. Greg was originally diagnosed with a form of epilepsy. He had no cardiac testing until he was 14 and was about to go on medication for attention deficit disorder. "His family doctor did an ECG and the results were reported to be normal," says Pam. She adds that some time after Greg died, a reanalysis of the original ECG was done by an expert electrophysiologist-cardiologist, who said the ECG indicated that Greg had long Q-T syndrome, which occurs when an individual has a mutation in his ARVC gene. Long Q-T syndrome is a rare disorder of the heart's electrical system that can happen in otherwise healthy people. Its name comes from the way the heart's electrical activity is recorded during an electrocardiogram.
"At the time of Greg's death, the medical community couldn't give us any answers," says Pam, "because with long Q-T, the heart tissue looks normal on autopsy."
Greg's younger sister, who had also started to have fainting spells, has been diagnosed with the same inherited syndrome and is now doing well on medication. "The sad irony of this is that with diagnosis and treatment, people can go on to live pretty normal lives," says Pam, who, with a group of affected parents, founded the Canadian SADS Foundation in 1995.
The charity is currently working with concerned physicians on a longterm public education program to raise awareness in communities across Canada, and targeting youth sports organizations. The foundation is also trying to encourage doctors to conduct research that could determine if largescale questionnaires and ECGs can pick up enough cases in youths to justify screening costs.
Another goal is to make automated external defibrillators (portable devices that can detect an irregular heartbeat and deliver a shock to stun it back into a normal rhythm) widely available in schools, sports facilities and public buildings, and to train people to use them. "Since mandating automated external defibrillators in all schools in the early 2000s, the state of New York reports that 52 lives have been saved," says Blake Hurst, public access defibrillation program coordinator for Halton Region, west of Toronto.
"Fortunately, people are more proactive about these genetic conditions now," says Pam, pointing to new cardiac autopsy standards in Ontario that investigate unexplained sudden deaths in people ages two to 40. The chief coroner's guidelines, introduced in July 2008, require pathologists to assess the hearts of young sudden-death victims for elusive conditions, such as ARVC, and to store heart tissue for genetic testing, because other family members are often affected by the condition.
Other jurisdictions across Canada are expected to follow suit. "The B.C. coroner's office is in the process of developing similar guidelines," says Dr. Shubhayan Sanatani, an electrophysiologist at the Children's Heart Centre at the B.C. Children's Hospital in Vancouver.
Page 2 of 4 -- What it's like to live with an implanted defibrillator on page 3.
