Those With Dutch Ancestry More Vulnerable To Deadly Genetic Heart Disorder
GRAND RAPIDS, MI -- West Michigan, a region settled by immigrants from the Netherlands, has thousands of residents of Dutch descent who are vulnerable to a potentially deadly genetic heart disorder, likely tied to a common ancestor.
Hypertrophic cardiomyopathy, or HCM is a life-threatening heart condition that can cause sudden death. It affects about 1 in 500 people and is one of the most common genetic cardiovascular disorders, according to Dr. David Fermin, medical director of the Spectrum Health HCM program.
"We estimate that between 2,000 to 4,000 people in West Michigan may be affected by HCM," Fermin told Spectrum Health Beat. "Although HCM is a potentially serious genetic heart condition, with specialized medical care and family screening, the long-term outcomes for HCM are very good, with a similar life expectancy to the general population."
One of Spectrum's success stories is Ken Whitcomb, 53. Several of his relatives have died from the condition.
HCM is a leading cause of sudden death in the young, particularly athletes.
Whitcomb, an athlete who excelled in track and field in high school and college, was diagnosed in his 20s after running caused him to cough up blood.
His heart condition originates from his Dutch heritage. The particular genetic mutation he suffers from is common in the northern part of the Netherlands, where his ancestors lived.
Treatment for the heart condition ranges from medication to a heart transplant. In 2011, Whitcomb had a defibrillator installed. The device is designed to jump-start his heart if it stops.
The next year, he underwent septal myectomy, a surgical procedure to correct the obstruction of the heart caused by HCM. The operation involves stopping the patient's heart and putting it on a heart-lung machine while surgeons slice off the enlarged muscle to remove the obstruction.
The procedure, typically done at a few major centers around the country, is now performed with increasing frequency at Spectrum Health.
"It was life changing," Whitcomb told Spectrum Healthbeat. "There's a huge difference in what I was able to do and what I can do today. I have been able to resume activities that I couldn't even think about doing before.
He is running again -- for the first time in 25 years.
"I had thought there was no chance I would ever be able to do that again. I'm just in a whole different place."
Spectrum Health can identify people at increased risk for the disease with a blood test.
Thousands of genetic mutations in more than 25 different genes are now known to cause HCM.
"Many of these mutations are unique to just one or two families worldwide," said Ryan Rodarmer, a genetic counselor with Spectrum.
In the Netherlands, however, the majority of mutations occur in just one gene - the MYBPC3 gene, he said.
The majority of those with HCM in the Netherlands have the disease as a result of one of just three particular mutations within this gene. Each of the three genetic mutations is a founder mutation, and each traces back many generations to a common ancestor from the Netherlands.
"We have recognized that many of our HCM families who report Dutch ancestry carry one of these three founder mutations," Rodarmer said. "These families likely share a common ancestor, which may date back to as many as 25-plus generations ago."
Story Credit: http://www.mlive.com/news/grand-rapids/index.ssf/2017/07/those_of_dutch_descent_more_vu.html