Ellen was a nurse herself when she was struck by cardiac arrest. DNA testing revealed that she has hereditary heart muscle disease. And she is not the only one in her family. Ellen underwent a heart transplant at UMC Utrecht, where she once sat in the lecture hall as a student.
Ellen studied nursing science at UMC Utrecht, played a lot of sports and enjoyed student life. Until one day. She was twenty-five and went into cardiac arrest out of nowhere during a game of soccer at a family weekend. “The resort we were in was in the middle of the woods. I was resuscitated for twenty minutes by my mother and my aunt before the ambulance got there.”
After her resuscitation, Ellen was immediately implanted with an ICD because of heart failure and arrhythmias. “Because I was so young, they thought of two things at the hospital: hard drugs or familial cause,” she said. The examination revealed the latter. Ellen was diagnosed with PLN cardiomyopathy, an inherited heart muscle disease. This disease is caused by a PLN mutation, an inherited flaw in her DNA that can cause cardiac arrhythmias. Sports appeared to be a trigger in her case.
“Until I was diagnosed, my aunt was the only one in the family with heart disease,” she said. Hereditary testing later revealed she was also a PLN carrier. In addition to Ellen, her mother and several aunts and nieces also tested positive for the PLN mutation. “My brother chose not to get tested, didn’t want to look too much into the future. He did have physical tests done, to make sure his heart was okay.” The clinical geneticist told Ellen that this inherited disease can be very variable. That’s because DNA errors, such as the PLN mutation, can sometimes have consequences and sometimes not. Also, the effects can vary from person to person.
Meanwhile, Ellen had resumed her studies. “My ICD went off eight times in the first few years. On the field hockey field, while I was eating pizza, on my bike. I remember it exactly, because I was conscious every time it happened. I felt the shock of the ICD. But I didn’t mind that so much, the technology just gave me extra security, I could rely on that.” Ellen continued her studies. She also worked as a nurse in psychiatry. But field hockey no longer worked out; after four years she had to quit. “At its lowest point, my ICD shocked 31 times in three months. That was the moment when my arrhythmias could no longer be controlled.”
Her heart deteriorated so rapidly that Ellen went in and out of the hospital, from admission to admission. No medication worked anymore. Until she was transferred by screaming ambulance to UMC Utrecht. Immediately that evening she was given a support heart, a mechanical pump that supports the function of her heart. Because she continued to have arrhythmias, Ellen had to stay in intensive care. This put her at the top of the transplant waiting list: high urgency international.
Within six days, a heart was available and Ellen received a heart transplant. “So I was very lucky. I have a relatively progressive form of PLN and was transplanted at the age of 37. If I hadn’t been transplanted, I wouldn’t be here. I am still alive thanks to my donor and the special center for support heart and transplants here at UMC Utrecht. Only three academic hospitals in the Netherlands have that. Crazy though, because of my studies I knew the building from a completely different angle.”
Ellen didn’t feel an immediate difference. Her husband did, who noticed she had warm hands and feet again. And together they heard her heart beating again. Ellen did still have an external pacemaker attached to support her new heart. “I didn’t mind relying on equipment at all for a second time. After all, it had already saved my life several times.”
That’s how she got out of the hospital. “With many scars added and a heart richer!” Things went very well after that; three months later Ellen was already going back to work. “I just felt like it. Because I had received a donor heart within six days, I felt like I had ‘pushed ahead’ on the transplant waiting list. As a result, I felt a tremendous responsibility to actually do something with it. Primarily out of gratitude to the donor, but also to myself. What you receive is something very special. You have to be respectful of that.”
The fact that Ellen is a carrier of the PLN mutation also got her thinking about the issue of heredity. She herself never had a desire for children, nor did her husband. Perhaps fortunate in this, since she knew from her cardiologist that her condition in the pre-transplant period was not good enough for having children. After the transplant, a possible desire for children did become negotiable and pregnancy would be possible. But this is not what Ellen and her husband need. “Had we did have that desire for children, I don’t think the heredity issue would be a limitation for me to try to get pregnant. You always have a 50 percent chance that your child doesn’t have the PLN mutation.”
“My life is not even that much different from before. I do the same job and can play sports again. That might be the biggest change, or improvement.” With new motivation, Ellen turned back to nursing and her students. These had sympathized with her, wanted to visit her in the hospital. “I held that back a little; I looked like crap with my swollen prednisone face. Then I found it wonderful that they paid so much attention to me. Personally but also from our profession: they have experienced how successful such a transplant can be. I may be a PLN carrier, but I am no longer a PLN patient.”
Editor’s note: We respect the privacy of transplantee, donor and next of kin. Therefore, names, ages and other details have been anonymized in this story.
Minister Bruno Bruins (Medical Care and Sport) extended the official recognition of the Center for Hereditary Cardiovascular Diseases at UMC Utrecht by four years in October 2019. As an expertise center for rare disorders, patients, family members and healthcare providers can come to this center for expert and integrated care for hereditary heart muscle diseases (cardiomyopathy), cardiac arrhythmias and rare hereditary vascular diseases.