Alexa Michelle Corneil grew up in Northern Ontario with an incomparable passion for hockey. A competitive player at an early age, she was known for her prowess with the puck and uncanny ability to find the back of the net.
“What else did she do in her free time? Play more hockey,” chuckled her father, Dr. Glenn Corneil, a family physician in New Liskeard. “She had great vision, great hands.”
Alexa was in her first year of university in 2017, studying Sports Management and Administration at Brock University, when she passed away in her sleep due to arrhythmia from an undiagnosed heart condition. She was 19.
“I had so many questions,” said Corneil. “I’m a doctor; what did I miss?”
But Corneil didn’t miss anything. Alexa, like many of the 148,000 Canadians who have an inherited heart rhythm disorder (IHRD)1, was asymptomatic until her death. Of the 30,000 Canadians who die suddenly each year, at least 600 under the age of 35 die as a result of sudden cardiac arrest attributed to an IHRD.2
In Alexa’s case, an autopsy determined she had arrhythmogenic right ventricular cardiomyopathy (ARVC), with a pathogenic PKP2 mutation, and a variant of unknown significance in the DSG2 gene. Corneil had never heard of ARVC. His local internist had limited previous exposure. As is common in rural areas, the person with the most knowledge was the coroner.
“About 15% to 20% of the patients I see are referred to me by the coroner’s office,” said Dr. Martin Green, collaborator with the Hearts in Rhythm Organization (HiRO) and Director of the Inherited Arrhythmia Clinic in Ottawa. “If you screen two parents, almost 100% of the time one of the parents has passed it on. If you screen the siblings, there’s a 50/50 chance each of them will have it.”
In the Corneil family, mom Paule was also diagnosed with ARVC with the mutations. Two of Alexa’s three siblings also carry the PKP2 gene for ARVC. Looking back, Corneil said if he knew in 2015 what he knows now, it’s possible the family would have been tested sooner.
Paule experienced intermittent palpitations throughout her life, Corneil explained, but it wasn’t until 2015, when the PVCs became very frequent, and paired, that she underwent testing. In hindsight, her ECG showed T wave inversion into V4, and was diagnosed as possible ischemic changes, instead of raising the possibility of ARVC.
“Alexa was our index case, but our index case could have been my wife,” said Corneil.
In the months following Alexa’s death, Corneil reached out to Dr. Andrew Krahn, founder of the HiRO network, to discuss the need for education about IHRD among family physicians and other rural and remote clinicians. HiRO’s mission is to improve awareness and understanding of IHRD, standardize care in Canada, and prevent the tragedy of sudden cardiac arrest.
Krahn said that although EPs in the HiRO network are often called upon by those who know them, locating someone in such a niche area can initially be difficult. After talking with Corneil, Krahn challenged colleagues across the country to come up with ways to improve accessibility and awareness of their services.
Dr. Chris Simpson, lead investigator of the HiRO clinic in Kingston, was one of the first to respond. He created an IHRD specialty group for the Ontario eConsult Program.
eConsult is a secure, online tool that allows clinicians to send patient-specific clinical questions to a specialist and receive advice for treatment in seven days or less. It is free to use for both the patient and the provider, and often eliminates the need for a face-to-face consultation with a specialist.3
“I anticipate we will be able to remotely direct an investigation strategy, before seeing the patient, and in most cases, we won’t need to see the patient at all, especially if we rule out sinister causes,” said Simpson.
In the Ontario eConsult Program, clinicians can either send a query to a specific specialist or to a specialty group, where it’s assigned to a specific specialist by a case assigner. In addition to the query, clinicians can also attach pertinent documents, such as exam results, diagnostic tests, video or audio files, and images.
“Our field is very suited to an exchange of this type with an EKG review,” said Krahn. “Typically, there is not much gained from doing a physical exam of these patients.”
Although eConsult already caters to a variety of special patient populations, this is the first time it has been used in Canada to target those with IHRD. With enough awareness and uptake, the service has the potential to save, in Krahn’s estimation, half of those with IHRD who report previous symptoms.
“There is a realistic and meaningful risk for 20,000 to 50,000 people in Canada,” he said. “That is the group we’re hoping to target.”
Drs. Erin Keely and Clare Liddy, co-founders of eConsult in Canada, believe the service is ideally suited to address some of the barriers typically encountered when accessing highly specialized care, such as geography, social circumstances, and complex conditions.
“It’s a real opportunity to provide much-needed care and prevent death,” said Keely, an endocrinologist. “This will improve equity of access to a very specialized area of cardiology.”
eConsult was created in 2009 after a conversation between Keely and Liddy, a family physician, as a way to address ballooning wait times in Canada. They recognized many referrals were for issues that could easily be managed by primary care providers, with a bit of advice and guidance from specialists.
Simpson and Green see this as the way the IHRD specialty group can effect the most change through eConsult. With over 20,000 queries sent in Ontario in 2018-2019, and approximately 8,000 clinicians registered, the service can expedite the dissemination of information.
“Syncope is common and most is not related to an inherited arrhythmia,” said Green. “But it is a zone where there is a lot of confusion as to whether it’s something like Long QT syndrome, or where it’s variants of normal.”
With an average wait time for assessment of approximately three months at some of the larger clinics in Canada4, eConsult can be used to assist in the diagnosis of IHRD, review ECGs, recommend further diagnostic testing, advise next steps when a diagnosis is provided, and identify those requiring in-person specialist visits, said Simpson.
“The ultimate goal is to improve pick-up of these cases and shorten wait times to see us, which can be long and often involve going through several layers,” said Simpson.
It can also connect patients and providers with highly qualified and much-needed genetic counseling services. “Genetic counselors are critical to the process,” said Green. “They’re under-recognized and underappreciated, but they are a critical component of the inherited arrhythmia world.”
Although newly launched, Liddy said feedback on the IHRD specialty group has already been positive.
“Physicians who have seen this group on eConsult, particularly from the northern and remote regions, are very excited we’re offering this as a part of the eConsult service.”
In tandem with the Ontario eConsult Program, British Columbia also launched its own IHRD-specific group on eCASE (Electronic Consultative Access to Specialist Expertise). eCase is a non-urgent, secure, email advice service. Founded in 2017, it links specialists to clinicians seeking guidance for patient treatment, often negating the need for a face-to-face referral.
eCASE is supported by the B.C. Shared Care Committee (a joint committee of Doctors of B.C. and the Ministry of Health) and is offered in the Vancouver Coastal Health region. IHRD is the newest specialty offered on the service.
“It’s a brand-new access point,” said Margot Wilson, Director of Providence Health Care, and a founder of the service. “By putting in a structure like eCASE, it’s ensuring a timely, collegial, and educational answer.”
For Corneil, those educational answers are paramount. Alexa’s death made him aware of how little the average GP, remote internist, or rural ER physician knows about IHRD.
“Locally, I’m now a resource,” he said. “Hopefully, in the future, people will think of using eConsult to figure out who to contact for help.”
Keely agreed, saying building provider capacity and confidence in treating IHRD is critical.
“It helps not just the patient that the eConsult is about, but also the next patient.”
Disclosure: The author has no conflicts of interest to report regarding the content herein.
- Hearts in Rhythm Organization (HiRO). Number of Canadians Living With Inherited/Genetic Heart Rhythm Disorders Annually. Email data request on May 30, 2019.
- The Canadian SADS Foundation. Available at https://www.sads.ca. Accessed May 30, 2019.
- Liddy C, Moroz I, Mihan A, Keely E. Assessment of the Generalizability of an eConsult Service through implementation in a New Health Region. J Am Bd Fam Med. 2019;32(2):146-157. DOI: https://doi.org/10.3122/jabfm.2019.02.180169.
- Hearts in Rhythm Organization (HiRO). Average wait time for an initial consult with a specialist for a possible IHRD (nationally). Email data request on May 30, 2019.