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Heart month: managing genetic predispositions through research and care

It’s estimated that approximately one in 500 British Columbians are at risk of an inherited arrhythmia; an alarming statistic given the first symptom could be sudden cardiac arrest.
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​Photo: Dr. Laura Arbour

Early cardiac diagnosis and detection of genetic predispositions allow clinicians to create tailored plans for patients and can lead to targeted screening of family members. By following this process clinicians are able to identify inherited arrhythmias in patients and potentially prevent cardiac arrest that could lead to unexpected death. 

In 2004 Dr. Laura Arbour, medical geneticist (then at the BC Children’s and Women’s Hospital), began working with the Gitxsan* Health Society after concerned community members came forward asking why so many people of First Nations ancestry from Northern B.C. had been diagnosed with Long QT Syndrome. Long QT Syndrome is an inherited heart arrhythmia that can cause irregular heart rhythms leading to dizziness, fainting, palpitations, seizures and sometimes death.

Dr. Arbour and a small team of researchers spent countless hours over the course of the next few years visiting communities in the north to assess, test and screen hundreds of people. They soon discovered that a mutation in the KCNQ1 gene was the most common cause of Long QT Syndrome in Gitxsan* people. 

With this information and medical advances, it became apparent that more support and clinical resources were needed for patients with inherited arrhythmias in B.C., including patients in the north. In 2012 Dr. Arbour, in partnership with Drs. Anthony Tang (Royal Jubilee Hospital, Victoria), Andrew Krahn (St. Paul’s Hospital/Vancouver General Hospital), Shu Sanatani (BC Children’s Hospital), and Cardiac Services BC, championed a successful application to the Specialist Services Committee for the development of the BC Inherited Arrhythmia Program (BCIAP). Cardiac Services BC launched the program at three sites (Victoria, Vancouver (St. Paul's and  BC Children's Hospital) with outreach to Northern BC (Hazelton, Terrace, and New Aiynash)) in spring 2013. The service consists of a multidisciplinary team in cardiology, medical genetics, genetic counselling, nursing and pediatric specialists providing care for patients and families with inherited arrhythmia throughout the province.

Importantly, the BCIAP could then provide the necessary clinical support to augment Dr. Arbour’s research team and the local medical community. The team worked with Northern Health care providers and the Gitxsan Health Society to implement a process where community members would become active in their own care and treatment. Today, systems are in place to support anyone with a predisposition to Long QT Syndrome to receive evidence-based monitoring and management locally.  

The program has had more than 850 people participate in research of which 148 have tested positive for predisposition to Long QT Syndrome. Over a third of these people will never experience symptoms. Early and ongoing management of Long QT Syndrome will prevent potential acute care admissions and possible deaths; while a majority of the people with the disorder will live long, healthy lives with minimal treatment. The key is in knowing who is at risk so that management can be put in place. 

Dr. Arbour (now at Island Health) is a recipient of the BC Patient Safety & Quality Council 2020 Quality Awards for her work and research of Long QT Syndrome in Northern B.C. She will be presented with her award at the Quality Forum on February 25, 2020.

February is Heart Month, a time to bring awareness to the importance of cardiovascular health and reduce risks of cardiovascular disease. 

Cardiac Services BC plans, coordinates, monitors, funds and evaluates cardiac disease treatment and secondary prevention. Help B.C. residents stay informed about heart disease and heart conditions by visiting cardiacbc.ca/health-info.

*Gitxsan are First Nations people whose home territory includes most of the area known as the Skeena Country in Northern British Columbia. 

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