Shelly Schierts: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVD)

Shelly Schierts’ journey to finding the cause of her chest pain and unusual fatigue was anything but easy. When she was finally diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) after nearly three years, she sought additional expertise on the rare genetic condition and the best treatments for it. Shelly made an appointment with Dr. Jay Sengupta, an electrophysiologist who serves as co-director of the Genetic Arrythmia Center at Minneapolis Heart Institute® (MHI) and is a researcher at the Minneapolis Heart Institute Foundation® (MHIF).

“I got in with Dr. Sengupta and it was like almost a relief,” said Shelly. “I sat down and prepared myself that I was going to have to talk about this, and talk about why I think this is what I have. He just calmly put the papers down on the desk, and looked at me and asked, ‘Are you struggling with this diagnosis?’ I just thought oh, my gosh, I don’t have to explain it. He knows I have this, and now we can move on to what to do about it.”

As one of the premier heart rhythm research centers in the nation, MHIF drives research that brings new insights into the treatment of those affected by abnormal heart rhythms. From research that improves treatment to studies assessing the effectiveness of implantable cardioverter defibrillators (ICDs), MHIF is changing outcomes. MHIF also supports unique programs such as the Genetic Arrhythmia Center, which maintains a registry of patients that allows researchers to study rare inheritable heart rhythm disorders like ARVC. 

For nearly three years, Shelly had struggled to get a proper diagnosis, despite having various lab tests, an EKG, a stress test and an echocardiogram. Doctors couldn’t seem to find anything wrong and suggested it was due to stress and anxiety or even sleep apnea. However, Shelly knew those weren’t issues for her.

“I’m very aware of those things and taking care of them and I deal with them through exercise,” said Shelly. “Back in 2016, I started having a lot of chest pain and extreme fatigue. I was 42, and I was in the best shape of my life. I couldn’t understand why I was so tired. I was riding my bike a lot, and I had joined a rowing club, and I just started to get really fatigued, to the point where some days I had a really hard time driving myself home from work. I do a lot of sitting at work, and so it was just very unusual.”

It wasn’t until her brother, who was also an avid bicyclist, got diagnosed with ARVC in 2017 that she started to learn more about the genetic condition and wonder if she, too, might have inherited it. She eventually had an MRI that showed her heart was enlarged and the doctor shared that she also had the condition. ARVC is a form of heart disease that usually appears in adulthood and causes part of the myocardium (the muscular wall of the heart ) to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death. Up to half of all cases of ARVC appear to run in families. Shelly’s mother has the same gene sequence, but has not developed the condition; Shelly’s adult daughter plans to undergo testing.

In June 2019, Dr. Sengupta implanted an ICD (implantable cardioverter defibrillator), which monitors Shelly’s heart rhythm and delivers an electrical shock to her heart to return it to the normal rhythm if necessary.

“Although I was anxious about getting the ICD placed, a half hour after the procedure I was sitting upright in a chair and knew I was better,” said Shelly. “It was almost immediate that my lightheadedness and dizziness diminished. My parents looked at me and said I had more color in my face than before and I laughed, thinking to myself, ‘circulation is a good thing!’

While she can no longer participate in competitive or endurance-type activities, she’s adapted to more leisurely bike rides and other activities.

“It’s been a big change,” said Shelly. “It’s like I’ve had to go through sort of a grieving process … that I don’t get to be that person anymore, but I get to focus on finding things that I can do, like sewing and writing a book. I can tell that I seem to be more stable and so much less symptomatic. Dr. Sengupta is an excellent physician, he saved my life, and I am so ever grateful!”

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