A genetic heart disorder is killing young people—and going undetected
WHEN THE RHYTHM GOES WRONG
A genetic heart disorder is killing young people—and going undetected
“I’m zooming,” said Taylor Allan, getting into the hot tub, using the slang word for dizzy. It was a Saturday night in late April, and she and her friends were hanging out in the backyard of a parent’s house just outside of Kingston, Ont. Taylor, a tall, strawberry-blond 16-year-old, suggested that in between dips they jump on the trampoline. She wanted to warm up in the water first, though. But as soon as Taylor started to step into the tub, she became light-headed. Seconds later, she collapsed onto the ground.
At first her friends thought she was joking, but they quickly realized this was serious. They carried Taylor inside, onto a couch and called 911. They couldn’t feel a pulse. Frantic, her friends and then paramedics tried to resuscitate her. She was sped to emergency, where doctors and nurses pumped her chest but only got a few flutters. They ushered Taylor’s father, Ken Allan, who had been called to the hospital, into the operating room to see if the sound of his voice would make any difference. “Taylor, it’s Dad. I know you can hear me. Breathe, honey, breathe,” he yelled at her. The medical team, in tears by now, worked for over an hour, but Ken only lasted 20 minutes in there. “I didn’t have to be a coroner to know that she was already gone.”
Ken Allan, a straight-talking senior officer with the Correctional Service of Canada, in charge of the drug detector dog program, was stunned and desperate for an explanation. “Brain aneurysm, that’s what I was thinking,” he says now. The family were notified within a day or so that a cause of death couldn’t be found. The coroner reported he had to assume foul play. Taylor’s body was then taken by police escort to Toronto’s Hospital for Sick Children for analysis. “I was numb,” Allan says of the ordeal. “I wanted to go with them,” but he couldn’t. “This is a police investigation. We prefer you not to come,” he recalls the cops telling him.
Within the day, the Allans got a call from the head of cardiology in Kingston, Dr. Chris Simpson, saying that foul play was not, in fact, the cause of death. So what, then? Taylor, it was discovered, had arrhythmogenic right ventricular cardiomyopathy. Ken Allan was even more confused. “When I learned it was ARVC I felt pretty much [like], ‘What the hell is that?’ ”
He isn’t the first grieving parent with that question. More than 1,400 families across the country affected by genetic heart rhythm disorders such as ARVC are listed with the Canadian Sudden Arrhythmia Death Syndromes (SADS) Foundation, which promotes awareness. Heart arrhythmias aren’t uncommon. At least one in 300 people may have some type of heart rhythm disorder, says Dr. Joel Kirsh, a pediatric cardiologist at Sick Kids. As many as one in 2,000 people have ARVC, which causes muscle cells in the heart to deteriorate. Eventually, the heart becomes fatty, fibrous, weak and scarred, especially on the right side.
Like most genetic heart rhythm problems, the irony of ARVC is that it often affects otherwise healthy, young athletes. Taylor played just about every sport. “One of the most compelling things about this story is that it’s not unique,” says Pam Husband, director of SADS, which is based in Mississauga, Ont. “Unfortunately, situations like that of the Allan family go on regularly. Kids are slipping through the cracks.”
One of the biggest reasons, experts say, is because disorders such as ARVC go undetected. The symptoms—fainting when experiencing physical activity, emotional distress when startled, or seizures and heart palpitations—are often ignored or misdiagnosed. A 2005 Swedish study concluded that among young people “the symptoms preceding sudden cardiac death were common but often misinterpreted.” In other cases, there are no warning signs, just mysterious sudden deaths. “A drowning in a family pool with a teenager who could swim. A son who ran the car off the road into a tree. People who die in a car accident when there are no adverse road conditions, it’s a single-car accident and no drugs or alcohol,” Husband explains. There’s even talk in research communities that sudden infant death syndrome may have been, for years, improperly identified in babies who actually suffered from one of these heart rhythm conditions.
With Taylor, there were red flags, but they were recognized too late. Nearly a year earlier she had passed out on the soccer field and was taken by ambulance to the ER where they ran blood and urine tests, an electrocardiograph and put her on IV. Taylor recovered quickly, and the medical staff couldn’t locate abnormalities. Her father remembers them saying, “She’s 15. Maybe she stood up too quickly. It might be her menstrual cycle or that she broke up with her boyfriend.” Allan now anguishes over not pushing for more
analysis. After Taylor died, her friends told her father that she had fainted and been dizzy other times too. “It haunts me every day,” he says.
HEART ARRHYTHMIAS CAN BE TREATED-IF THEY ARE PROPERLY DIAGNOSED
Husband can empathize. Her 16-year-old son, who died in 1990, fainted regularly upon awakening to the shocking buzz of his morning alarm for years. Various tests seemed to provide no explanation, so doctors assumed he must just have idiopathic epilepsy. It wasn’t until Husband had one of his ECGs examined again after his death that she learned her son had a genetic heart rhythm disorder called long QT syndrome. “That was the second worst day of my life,” says Husband, because she realized then “the death was unnecessary.” The bittersweet outcome in both situations has been that Allan and Husband have now both been tested using ultrasound, ECG, MRI and genetic analysis to determine whether they and their other children have one of these disorders. (The Allan family is awaiting results, though one son has complained of ARVC symptoms. Husband’s daughter has been diagnosed with long QT.) Extended family should be examined too since the chances of passing on an inherited heart rhythm disorder can be high—in the case of ARVC there’s a 50 per cent risk.
The same month that Taylor Allan died, scientists at Memorial University in St.John’s, Nfld., published a study in the American Journal of Human Genetics
showing that, after years of research, a gene mutation responsible for a subtype of ARVC had been identified. (There are thought to be ll subtypes; the underlying genetic cause of seven is known.) TMEM43, explains Terry-Lynn Young, a molecular geneticist and one of the authors, can be “lethal. The heart goes into spasm, and the person may faint, recover and live, or faint and never get up again.” It’s found in families throughout the province who suffer from ARVC5—the youngest victim was 19. “Hundreds have died,” says Kathy Hodgkinson, a genetic counsellor and an author as well. “Knowledge of family history can save your life.”
“These are treatable conditions,” says Joel Kirsh. “You can prevent sudden death when symptoms are identified. That’s why it’s so important” to make diagnoses. Depending on the specific heart rhythm disorder, treatment ranges from medication to pacemakers or defibrillators to open-heart surgery. Without treatment, 50 per cent of men who have the ARVC5 gene mutation will not live to see age 40, nor will five per cent of affected women. What’s more, adds Hodgkinson, “80 per cent of men won’t see 50, and 20 per cent of women won’t,” if they don’t get medical help. (In other types of ARVC and heart disorders the gender difference is not so dramatic.)
There are also initiatives promoting screening programs for young athletes who want to play organized sports. That happens in Italy, where ARVC is acute in the northern region of Padova. But the logistics of implementing screens—on who, at what age, at what cost—have made progress slow so far. SADS is for it: “We believe in screening,” explains Husband, though she suggests it would likely start in one school district as a case study. “We think it should be universally applied. We’re just not sure what it should look like in Canada yet, and neither are physicians.” Still, there are some signs of a growing recognition of ARVC and similar disorders. Recently, Ontario adopted new guidelines for coroners and forensic pathologists to use in cases where cause of death cannot be immediately identified and foul play is not suspected. “Twenty to 30 per cent of young people are going to have no cause of death on autopsy,” explains cardiologist Kirsh, who helped create the guide. “And if you investigate those aggressively, then 30 to 40 per cent of them can be explained by a heart rhythm disorder.”
Ken Allan advises families, teachers, coaches and friends to be vigilant. “Be aware of the symptoms. It’s easy to overreact. But if you’re going to make an error, make it on the side of safety,” he says. “I’m not going to make any more errors when it comes to my children.” Kirsh agrees: “The more the public recognizes that fainting can be a life-saving sign of a problem rather than just brushing it off, the more it would help me take care of patients rather than take care of the patient’s families after a person has died. I’d much rather do that.”
The story you want is part of the Maclean’s Archives. To access it, log in here or sign up for your free 30-day trial.
Experience anything and everything Maclean's has ever published — over 3,500 issues and 150,000 articles, images and advertisements — since 1905. Browse on your own, or explore our curated collections and timely recommendations.WATCH THIS VIDEO for highlights of everything the Maclean's Archives has to offer.