‘It helps you feel less alone’: Symposium shares knowledge of genetic heart conditions

Sasha Pang and her daughter each have a genetic heart condition and are part of the HiRO registry. (Sasha Pang)

It’s been a little over a year since Sasha Pang first connected with HiRO, the Hearts in Rhythm Organization, but in that time, her life has changed dramatically.

Pang has a “very rare” and only recently identified genetic mutation that can lead to cardiomyopathy.

“One of the unique things about the specific mutation I carry is, oftentimes, the first clinical presentation is actually sudden cardiac arrest or sudden cardiac death,” Pang told CTV News at HiRO’s 10th annual Symposium Saturday.

Since learning about her condition—and that she had passed it on to her daughter—last year, Pang has become a patient at the Inherited Arrhythmia Clinic at St. Paul’s Hospital and received an implanted defibrillator.

The medical device will send a shock to her heart if it detects that the organ has gone into a dangerous rhythm.

“Fears of sudden cardiac arrest, sudden cardiac death are alleviated for me,” she said. “That doesn’t mean that my disease won’t progress, but it does mean that I no longer walk around worrying that my kids might not have a mom, and that’s incredible.”

Cases like Pang’s are what HiRO was set up to address. The organization’s mission is to prevent sudden cardiac death caused by inherited heart conditions—a mission complicated by the fact that, like Pang until recently, many people who have a genetic heart condition don’t know it.

Dr. Andrew Krahn, who works at St. Paul’s and the University of British Columbia, founded HiRO with the goal of connecting research into these conditions with patients who can benefit from it.

While each individual condition may be rare, the overall prevalence of such conditions in the population is significant, Krahn said.

“If you add it all up, it’s about one in 200 people in Canada (who) have one of these inherited conditions,” he told CTV News.

“We think it’s a lot, and the more we look, the more we find. We also know that most patients who have them haven’t yet been discovered. So, there’s the work of trying to determine who they are.”

In the 10 years since its first symposium, HiRO has grown into a national network of more than 20 specialized cardiogenetics clinics across Canada, with more than 7,300 patients and families enrolled.

The annual symposium allows researchers, clinicians and patients to meet and share their knowledge and experiences.

“It’s not just about discovering things, it’s also about putting them into use and protecting those families from bad things that happen to heart patients,” Krahn said.

Pang agreed, noting that one of the challenges of having a rare condition is that even the experts don’t always have clear answers. Meeting researchers, doctors and fellow patients through HiRO is “incredibly helpful” not only for the knowledge that they can share with each other, but also for the community they create, she said.

“It helps you feel less alone,” Pang said. “It also helps you feel like even if you can’t get answers, even if you can’t get certainty, you can get empathy and you can get hope in what might be possible in the future.”