Dutch hearts, Greater risk

Dordt University project raises awareness about rare Dutch gene linked with heart disease.

“I found out that I am a carrier of PLN (Phospholamban) when I was 33 years old. I knew that I should be informed about my own health, but never did I think that finding out about it would take me to where I am now.”

PLN, as this carrier discovered, is the gene that regulates calcium balance in our hearts. A mutation in that gene leads to heart muscle disease – and it occurs in 15 percent of people in the Netherlands already diagnosed with heart problems, compared to one percent of cardiomyopathic patients in the U.S. This means it’s a genetic disease that affects people of Dutch descent at a higher rate than other members of the population. Several correlations between ancestry and disease are more familiar, such as sickle cell and people of African descent, but it’s only recently that medical providers have started offering genetic screening for people concerned about the risks inherent in their ethnic background.

The PLN heart variant gene was first discovered in 2006 in a Greek family, and found since then in the Netherlands, U.S. and Canada. It seems to occur most among Frisians and other people from the Netherlands’ northern provinces. PLN can cause arrhythmias, fibrosis, cardiomyocyte damage, left ventricle damage and heart failure.

“I think that it is very easy to get stuck thinking about the negatives of this situation but I prefer to focus on the positive,” another PLN carrier says. “The very fact that I know I have PLN could save my life and the life of my family members who are also carriers. I never would have seen a cardiologist without knowing about PLN.”

“I can honestly say I am glad to know I am a carrier of the PLN mutation.”

Raising awareness

This genetic mutation is known as an “orphan disease,” meaning that it affects fewer than 200,000 people around the world – which doesn’t inspire pharmaceutical companies to invest much money in researching it. It also means, unfortunately, that an estimated 90 percent of PLN mutant carriers are unidentified.

This is something that Dr. Dean Jansen, North American PLN secretary, and Dordt University public health student Lucy Borkowski are both trying to change by raising awareness about the mutation and its risks. Borkowski, who has Dutch ancestry, is spending the summer at Dordt in Sioux Center, Iowa, as a research intern studying PLN and networking with media platforms to teach as many people as possible about it. Borkowski sees herself as a “servant of God who helps people through this difficult journey.”

Ruth Hoekema (left) and Lucy Borkowski (right).

And it can be difficult. In fact, she says, many people chose not to complete genetic testing because they don’t want to know about faulty DNA in their genome. There is no cure. But PLN genetic mutation lowers life expectancy by approximately 20 years if left untreated. That’s why researchers are focused on spreading the news and catching the mutation early enough so that carriers can receive medical treatment.

“It is good to know if you have the PLN mutation,” carrier Ruth Hoekema of Hull, Iowa, says, “so that you know what symptoms to watch for.” Fortunately, using some (but not all) of the same treatment plans as patients with heart failure, lifespan and quality of life can greatly improve.

Christian Courier asked Dr. Jansen what advice he would give to people of Dutch descent. “If there is a family history of heart disease in every generation,” he says, “then genetic testing for the PLN mutation is a good idea.” Thirteen members of Jansen’s family have the mutation, including Jansen himself. Ventricular tachycardia forced him to retire from orthopedic surgery five years ago, and limits his daily activity now to “the least demanding sports and recreation.”

PLN has also impacted Hoekema, who says she has “some physical limitations due to shortness of breath.” Both of her sons have the mutation, but not her daughter. Hoekema says she “considers every day a gift.”

“God designed the human heart,” Borkowski agrees, “and it is to him we give glory for every chance our hearts have to beat.”

“As for living with PLN,” one carrier says, “I am not too worried because I know that my time here on earth has already been ordained by God since before he knit me together in my mother’s womb. Whatever he has planned for me, in whatever span of time, I will accept because I know that what is to come is even better than all that I have been blessed with on earth.”


  • Angela Reitsma Bick

    Angela became Editor of CC in 2009, having learned English grammar in Moscow, research skills in grad school and everything else on the fly. Her vision is for CC to give body to a Reformed perspective by exploring what it means to follow Jesus today. She hopes that the shared stories of God at work in the world inspire each reader to participate in the ongoing task of renewing his creation. Angela lives in Newcastle, Ontario with her husband, Allan, and three children.

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