Northwestern Medicine offers genetic testing for inherited heart diseases

GENEVA – Five years ago, St. Charles resident Nick Thielk, 23, was planning his wedding and buying a house when he noticed he was frequently short of breath. At first he thought it was just a cold, but after experiencing pain and an irregular heart beat, he was diagnosed with heart failure.

“I was blindsided,” stated Thielk in a news release from Northwestern Medicine Delnor Hospital. “I was young, athletic, ate well and generally felt healthy. I wondered what did I do to cause this.”

Doctors told Thielk that certain types of heart disease can be caused by genetic mutations, unlike the more widely known forms of heart and vascular disease that may develop over time because of diet or other lifestyle factors. Thielk inherited a gene mutation that causes weakness of the heart muscle, known as cardiomyopathy.

"Mr. Thielk was found to have an enlarged and weak heart, but no blockages, inflammation or infection," stated Michelle Montpetit, MD, a heart failure specialist at Northwestern Medicine Bluhm Cardiovascular Institute at Delnor Hospital, Central DuPage Hospital and Kishwaukee Hospital, in the release. "Family history is key in many diseases, particular cardiomyopathy. We completed a careful history with Mr. Thielk and discovered some potential cardiovascular concerns in his family tree."

Thielk underwent genetic testing that revealed an LMNA gene mutation, which is a gene that codes for proteins called lamins in the heart and is known to cause cardiomyopathy, heart failure and rhythm problems.

Subsequently, Thielk's family members were tested and all are physically well, but those who have the gene mutation will undergo more frequent cardiac screenings to diagnose any possible changes as early as possible. Jane Wilcox, MD, MSc, a heart failure and cardiomyopathy genetics specialist at Northwestern Medicine Bluhm Cardiovascular Institute provides care for families affected by LMNA.

“Using patient's own stem cells, we are learning more about how LMNA cardiomyopathy responds to new drug therapies. We go from the clinic to the laboratory bench, and back to the clinic with the goal of providing personalized cutting-edge care for families affected by this genetic disease,” stated Dr. Wilcox in the release.

“It was terrifying for us to learn our family carries this gene, but I was grateful to know the cause and now my family knows what to be on the lookout for,” Thielk stated.

According to the news release, while diet and lifestyle play a large role in developing heart disease, research has found that as much as 30 percent of heart disease cases are influenced by genetic factors.

"Genetic testing provides patients with sophisticated and personalized cardiovascular evaluation that has implications on the diagnosis, prognosis, and management of conditions," stated Anjan Tibrewala, MD, a heart failure specialist at Northwestern Medicine Central DuPage Hospital. "As our comprehensive cardiovascular genetics program continues to expand in the region, we are excited to provide this important service to our patients."

The Northwestern Medicine Cardiovascular Genetics Program provides comprehensive cardiovascular care encompassing genetic testing and medical management for all forms of inherited cardiovascular diseases. The program not only evaluates and cares for those individuals who have been diagnosed with a condition, but also works to identify relatives who are also at risk.

“Although these conversations can be difficult, it is important for family members to understand their risks,” stated Rebecca VanDyke, MS, LCGC, licensed genetic counselor at Northwestern Medicine Central DuPage Hospital, in the release. “By identifying at-risk family members before the onset of symptoms, they are able to receive screening and medical management that will help prevent morbidity and mortality, including sudden cardiac death.”

Thielk now takes a variety of medications to help regulate his heart function, improve blood flow and reduce fluid build up. He has a small defibrillator and pacemaker under his skin to shock his heart back into a normal rhythm if needed. He's now back to work full-time, and got married to his wife Katie in 2017.