For centuries, many Newfoundland and Labrador families suffered a heartbreaking mystery: their loved ones were dying suddenly and without explanation.

In a single year, a family could lose a father in his 40s and a son in his 20s. The heartbreaking phenomenon became known as the “Newfoundland Curse.”

When Dr. Kathy Hodgkinson, a Memorial University medical geneticist, learned of the "curse", she began investigating family histories. It became clear that a genetic condition was at play.

Determined to find out who was at risk of sudden death, and why, Memorial assembled a research team comprised of Drs. Hodgkinson, Terry-Lynn Young, Sean Connors and Pat Parfrey.

The team made a groundbreaking discovery: the Newfoundland Curse was a genetic heart condition known as ARVC (arrhythmogenic right ventricular cardiomyopathy.  

The researchers even identified the gene responsible: TMEM43.

The TMEM43 gene in people with ARVC has a faulty genetic code, which causes it to produce a TMEM43 protein that is different than the normal TMEM43 protein. This altered protein causes the heart to occasionally beat erratically, and sometimes, lethally.

The first symptom is death

ARVC is an especially dangerous disease because the first symptom is often death.

If a person doesn’t know they have it, and isn’t treated for it, their first bad heart episode could be their last.

“The TMEM43 genetic variant in Newfoundland and Labrador is particularly aggressive and lethal, especially for men,” explained Dr. Hodgkinson. “Without medical intervention, 50 per cent of men die by age 40 and 80 per cent by age 50. Women tend to be affected later in life, and usually less aggressively.”

A simple test and implanted device can now protect families

To prevent the Newfoundland Curse from taking any more lives prematurely, the Memorial University team developed a simple blood test to determine if someone with a family history of ARVC has inherited the deadly gene.

The researchers also established a program at the Health Sciences Centre so that anyone who has the bad gene can have an implanted cardioverter defibrillator placed in their chest in a relatively simply operation.

The device monitors the heart and delivers a life-saving shock if a dangerous heart rhythm occurs.

This solution has saved countless lives in Newfoundland and Labrador. In recognition of their work, the Memorial team received the Governor General's Innovation Award.

Latest breakthrough: can stem cell research provide a cure?

With February being Heart Month, Memorial is sharing an update on the university’s ARVC research.

Dr. Jessica Esseltine is a stem cell researcher at Memorial and a Heart and Stroke Foundation new investigator who is focussed on inherited heart disease in Newfoundland and Labrador patients.

What she’s bringing to ARVC research could stop the disease in its tracks.

Using a recent Nobel Prize-winning process, Dr. Esseltine is taking skin cells from siblings with and without ARVC and transforming them into stem cells. She uses the stem cells to grow live heart muscle in petri dishes. From this process, she’s learning how ARVC heart cells differ from those of their unaffected siblings.

This understanding will put her on a path to a potential cure. For example, Dr. Esseltine can treat the ARVC heart cells with different combinations of drugs to see which ones might best protect individual patients from the effects of the altered TMEM43 protein.

Furthermore, she can experiment with gene editing to turn off the production of the abnormal TMEM43 protein altogether to see whether this “fixes” the ARVC heart cells.

On establishing her research program in Newfoundland and Labrador, Dr. Esseltine said: “I am fortunate to work with incredible colleagues on interesting and challenging research questions. Mostly, though, I am profoundly grateful and privileged to work with our patients and their families and be given the gift of their support. I now see my entire career being focused on unravelling inherited heart disease in Newfoundland and Labrador patients.”

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For more information, or to arrange an interview with Drs. Esseltine and/or Hodgkinson, contact Chad Pelley, media relations manager for Memorial University, at chad.pelley@mun.ca or 709-853-4281.