“We believe there are about 1000 descendants of people from Friesland, Netherlands who came here 200 years ago who carry the mutation that puts them at risk for sudden death or heart failure.”
Dr. Charles "Chaz" Hong, chair of the Department of Medicine with the Michigan State University College of Human Medicine says the mutation in the phospholamban gene is prevalent among the Dutch but affects others too.
“We have tools and drugs and devices to prevent bad things from happening so it’s important to identify those people.”
One of those people is Dean Jansen, whose heart issues forced him to retire as an orthopedic surgeon.
“It’s been very active in my family. Eleven family member that are living have the mutation.”
Two of Jansen’s siblings and all three of his children have it but he says genetic testing and IVF helped ensure his grandchildren do not.
“With in vitro fertilization we can essentially wipe out in the next generation the mutation.”
MSU and Corewell Health are raising awareness about a registry and community outreach to screen for the variant and identify those at risk before a cardiac event occurs.
“When we have a cure, when we have clinical trials, it’s really important to have these people ready so they can get these personalized therapies.”
Hong says those concerned should contact a cardiologist for initial testing.
For more information contact the Dutch Foundation Stichting PLN.
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