Genetic Testing Helps Woman Beat Inherited Cardiomyopathy
May 05, 2022
DeAnn Bartram’s heart journey began decades ago when doctors diagnosed her father with cardiomyopathy, a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body. He was 37 at the time and his doctor told him the issue was not hereditary. But through devastating events they would eventually learn the condition did, in fact, run in the family.
Later, within the span of five years, the family lost two cherished members. DeAnn’s sister, Michelle, was jogging with her son. She collapsed and passed away four days later. She was 33 years old. Then, DeAnn’s second sister, Gina, collapsed at her son's track meet after jogging to and from her van. She died immediately.
After her second sister passed away, DeAnn’s friend Stacey Mazzurco urged her to see a specialist. Stacey is a nurse and director at University Hospitals Harrington Heart & Vascular Institute, where she works closely with Dr. Judith Mackall, a cardiac electrophysiologist and director of the Center for Cardiovascular Genetics at University Hospitals Harrington Heart & Vascular Institute.
“I contacted Dr. Mackall and she did all kinds of tests,” said DeAnn. “She told me I did have an issue and she wanted me to get a defibrillator. She stressed the importance. She wanted me to be around for my kids.”
DeAnn came from a family of runners and had been a runner her entire life. She received a track scholarship to Ashland University, where she met her husband. But because of her condition, Dr. Mackall told her she had to stop running.
“That’s the big trick in all of this. You feel fine, but you're not. I remember getting in my car and just crying, realizing that my poor sisters had to die so that I could live," she said.
“In DeAnn's case, her condition was a hereditary arrhythmogenic cardiomyopathy, and we were able to identify the gene,” said Dr. Mackall. “Arrhythmogenic cardiomyopathy is a condition that usually presents in adulthood and affects the heart muscle. The genes that code for the structure that holds the cells together are weakened. Over time, the cells start to pull apart, and they become inflamed and fibrotic or scarred. This can lead to life-threatening heart rhythm problems as well as heart failure.”
Dr. Mackall explains that if you have the gene, it doesn't necessarily mean that you're going to develop the condition. Doctors must follow patients closely and having an implantable defibrillator offers protection.
DeAnn stopped running and got the defibrillator, but worried about the health of her children. They had questions, too, about the genetic condition. DeAnn sent them to Dr. Mackall.
“I can remember them all being upstairs, me downstairs waiting as each one talked to her. My heart was pounding. Each one would come down and tell me they didn't have it. I would drop to the ground in tears thanking God. But then I would think that the next one must have it. But each one tested negative for the gene,” said DeAnn.
“DeAnn has a great prognosis. Most patients with this condition who are protected from life-threatening arrhythmias with defibrillators do very well and lead long and normal lives,” said Dr. Mackall.
“Our kids can now live comfortably. My mother would be grieving a lot more people if we didn't have the genetic testing. We’ve lost so much, but we’re thankful for what we do have,” said DeAnn.