In a quiet suburb outside of Minneapolis, Minnesota, an ordinary Saturday took a sudden and alarming turn for Scott Olson when he began experiencing symptoms of ventricular tachycardia. Central to the care and treatment he'd receive at Mayo Clinic was the precise testing that was done by Mayo's Cardiac Pathology Lab, which uncovered the true cause of his erratic heart rhythm. That discovery not only clarified Scott's diagnosis, but also highlighted the critical role that advanced diagnostics plays in guiding successful patient outcomes.

In a tranquil suburban neighborhood outside of Minneapolis, Minnesota, Feb. 11, 2023, started as a typical Saturday for Scott Olson. Like many weekends before, he enjoyed a leisurely dog walk with friends and indulged in a few spirited rounds of paddle. In the afternoon, he cheered proudly during his teenage son’s hockey game. However, as evening descended and Scott returned home, he faced an unforeseen health emergency that eventually led him to the renowned care of Mayo Clinic.

“Everything seemed fine until suddenly, I couldn't catch my breath,” Scott recalled.

Rushed to the emergency room at a local hospital, Scott received prompt treatment for ventricular tachycardia. In a bid to regulate his erratic heart rhythm, consultants swiftly managed the tachycardia and then ran numerous tests to determine the cause. It was discovered that Scott was a strong candidate for a defibrillator. Despite his knowledge of various heart conditions and leadership at a medical technology company that specializes in devices like defibrillators, Scott never anticipated being on the receiving end of one of these devices himself.

"It's a very ironic twist that I work for the company that made the defibrillator that potentially saved my life," he recounts.

However, the aftermath revealed a more profound issue: Scott was diagnosed with arrhythmogenic cardiomyopathy (ACM; previously known as ARVC*), a hereditary condition affecting the heart’s right ventricle, known for its potential to trigger dangerous heart rhythms, heart failure, and sudden cardiac arrest.

For Scott’s family, particularly his three teenage sons, the realization that ACM could potentially disrupt their athletic passions and pursuits was a bitter pill to swallow.

“It was devastating,” Scott reflected. “With three active boys, the thought of them inheriting this condition was incredibly worrisome.”

A month following his diagnosis, Scott was referred to Mayo Clinic, where the expertise and care of cardiac electrophysiologists Paul Friedman, M.D., chair of the Department of Cardiovascular Medicine, and Ammar Killu, M.B.B.S., marked the beginning of his healing. In April, after further examination of Scott’s onset right ventricular heart failure, Dr. Killu performed a specialized ventricular tachycardia ablation procedure.

“With Dr. Killu and Dr. Friedman, I knew I was in good hands,” Scott recalled. “Their confidence and competence gave me the strength to face each challenge head-on.”

After the procedure, Scott’s heart rhythm improved but soon experienced overriding complications, including low blood pressure and oxygen levels. Subsequently, he was referred to the Cardiac ICU, where Yogesh Reddy, M.B.B.S., a cardiologist in the Department of Cardiovascular Medicine, conducted urgent testing with the Echocardiology Laboratory to uncover evidence of acute right heart failure and scarring on his heart.

“The procedure that night was long and complicated. His low blood pressure and low oxygen levels were not typical of what you'd expect after you get a VT ablation,” explained Dr. Reddy. “The majority of the ablation was on the right side of the heart, which is not connected to the arterial system. The next morning, we primarily focused on urgent testing to figure out this unusual situation. We did an echocardiogram looking for shunting and we saw a lot of bubbles going into the arterial side. There was a lot of blood passing through a hole in his heart to keep his body’s blood flow acceptable.”

Despite extensive efforts to stabilize his condition, Scott's health continued to decline rapidly. In a race against time, Dr. Reddy enlisted the expertise of Philip Spencer, M.D., cardiovascular and transplant surgeon in the Department of Cardiovascular Surgery, and Adrian da Silva de Abreu, M.D., Ph.D., a cardiologist in the Department of Cardiovascular Medicine, to provide mechanical support and assess Scott for heart transplantation.

“Initially, we were quite puzzled because his presentation was very unusual,” Dr. da Silva de Abreu explained. “One day he was just a normal, healthy adult, and three months later, he was in the ICU.”

“I met Scott in the coronary care unit,” Dr. Spencer recounted. “He was already in the ICU in cardiogenic shock. Within an hour, I took him emergently to the operating room and put him on VA ECMO.”

Veno arterial extracorporeal membrane oxygenation (VA ECMO) was employed to stabilize Scott’s failing heart for a few weeks while Dr. Spencer and Dr. da Silva de Abreu promptly assessed him for a heart transplant. Even with an end-stage dilated cardiomyopathy diagnosis, Scott’s well-functioning other organs positioned him as an ideal candidate for the transplant. However, choosing the best match between two suitable donors posed a complex decision for Scott. Fortunately, Dr. Spencer provided guidance in navigating this critical choice.

“Thankfully, we were able to get him evaluated and listed within days, and he received a new heart in two weeks,” explained Dr. Spencer. “Although knowledgeable about heart disease himself, he still trusted us to get him the right care. We were fortunate to be offered two hearts. I felt very confident of which heart was the best choice. He was looking for guidance and I said, ‘Scott, you're gonna take this heart because if it were me, this is the heart I would take.’”

Following the successful removal of Scott's original heart, Dr. da Silva de Abreu promptly forwarded the explanted heart to the Cardiac Pathology Lab for thorough examination. There, Melanie Bois, M.D., a pathologist in the Department of Laboratory Medicine and Pathology (DLMP), and a team of consultants including pathologists Marie-Christine Aubry, M.D., and Joseph Maleszewski, M.D., made an unexpected discovery: Scott had cardiac sarcoidosis, a rare manifestation of sarcoidosis in which clusters of inflammatory cells develop in the heart tissue.

“For Mr. Olson, it took a multidisciplinary approach to pinpoint what his disease was. In this case, it was cardiac sarcoidosis,” explained Dr. Bois.

“Cardiac sarcoidosis inflicts damage to the cardiomyocytes and leaves bands of fibrosis throughout the heart, impairing its ability to function optimally.”

Differentiating cardiac sarcoidosis from conditions like ACM poses a significant challenge due to overlapping clinical presentations. Both may exhibit arrhythmias and inflammation in the heart, making accurate diagnosis challenging. However, microscopic examination of the ventricular myocardium and atrioventricular conduction system within Scott's heart unveiled distinct granulomas, a hallmark feature of cardiac sarcoidosis. The presence of these granulomas contrasts sharply with the triad of fatty tissue infiltration, lymphocytic myocarditis, and fibrosis typically observed in ACM.

“I remember the doctor coming in and saying, ‘It's not ARVC [ACM], it's sarcoid,’” Scott shared. “It was like a breath of fresh air. Suddenly, the future didn't seem as bleak.”

While consultants successfully arrived at the correct diagnosis, Scott's case serves as a poignant reminder of the mysterious nature of sarcoidosis. Despite his seemingly healthy disposition, he succumbed to a disease that’s origins and progression remain largely unknown.

“In general, we consider sarcoidosis to be idiopathic and we don’t know why it happens to certain individuals,” said Dr. Bois. “There is a subset of cases that may have genetic underpinnings, but we’re still conducting research in that arena. Cases like Scott’s bring us closer to providing hope and healing to those affected by this complex condition.”

After the lifesaving heart transplant and alleviation of his concerns about having ACM, Scott was determined to regain his health. From the moment he woke up, he was fully committed to his recovery journey and engaged in regular walks and rehabilitation sessions.

“Every physician, every nurse I met was extraordinary,” Scott says. “I am extremely fortunate to live in a state with amazing healthcare, and I’m fortunate to know people at Mayo Clinic.”

From the successful heart transplant to the meticulous testing needed to determine an accurate diagnosis, Scott's journey underscored the importance of teamwork and the unparalleled commitment to patient care by his Mayo Clinic team.

“The collaboration is really something to highlight because this doesn't happen everywhere,” Dr. Spencer shared.

“Collaborative efforts among pathologists, cardiologists, and imaging specialists are vital in navigating the complexities of such cases,” emphasized Dr. Bois. “Each team member was deeply engaged, and I’m pleased that we were able to get an answer for Scott and his family so quickly.”

Looking ahead, Scott is grateful for the second chance at life. “Every day is a gift,” he reflects. “I cherish the moments with my family and live each day to the fullest.”

*This condition was previously known as arrhythmogenic right ventricular cardiomyopathy (ARVC)