Project bringing genetic testing to the heart failure clinics

Genetic cardiomyopathy is a common cause of heart failure, a life-threatening condition that can lead to abnormal heart rhythms and a buildup of fluid in the body. 

Impacting about one in 250 Albertans, these progressive heart muscle disorders are caused by inherited genetic abnormalities and often develop in young people – commonly without any symptoms. 

Early diagnosis is critical, because life-saving medications reduce the risk of sudden cardiac death and improve quality of life. 

However, because genetic cardiomyopathies can remain undetected for decades, patients are often already ill when they receive a diagnosis. This leaves the patients, as well as their close family members, who have a fifty per cent chance of developing the disorder, at risk. 

Clinician-researcher Dr. Omid Kiamanesh, MD, who heads the Broderick Genetic Cardiomyopathy Program at the Libin Cardiovascular Institute, and Dr. Thomas Roston, MD, PhD, of the University of British Columbia, are leading a team of experts aiming to change this. They recently received a grant for a project that aims to expedite diagnosis of these disorders by bringing genetic testing to heart failure clinics in Alberta and British Columbia.  

“Approximately one in 500 people have a genetic cardiomyopathy and don’t know it,” says Kiamanesh. “We can diagnose these genetic abnormalities by a simple blood or saliva test, which allows us to better treat patients and more quickly inform family members who may be at risk.” 

Currently, people suspected of having heart failure caused by a genetic abnormality are referred to highly specialized programs for genetic testing, and the waitlist is up to three years. 

According to Kiamanesh, hereditary cancer researchers were the first to incorporate genetic testing in clinics. Their efforts have dramatically increased the number of vulnerable individuals being tested and shortened time to diagnosis and treatment. 

In Calgary, Kiamanesh follows about 400 patients with inherited disorders in the Broderick Genetic Cardiomyopathy Clinic. He is excited about the project, which, if successful, could lead to system-wide change. 

“We believe that mainstreaming genetic testing for non-ischemic cardiomyopathies will dramatically improve care for patients and their families,” says Kiamanesh. 

This project is being funded by Genome Alberta, Genome BC, Johnson&Johnson, and Roche Diagnostics.