Robert Frederick was living a typical life, going to work and spending time with his mother, siblings and children. But then it became hard to breathe when walking short distances or climbing stairs. He got dizzy. Perhaps most disturbingly, he passed out several times—once at a Braves baseball game he attended with his siblings.

“I didn’t know what was going on!” Robert recalled.

Difficulty controlling AFib with medication

After passing out the first time, he went to urgent care and was then taken to the hospital by ambulance. He learned his symptoms were caused by atrial fibrillation (AFib), an irregular heartbeat.

Robert began to see Dr. David Caras, a Wellstar general cardiologist, and learned AFib is related to high blood pressure. Successfully managing high blood pressure often helps people keep AFib under control. Despite their efforts, AFib sent Robert to the emergency room two more times.

Suspicion of HCM

Dr. Caras reviewed Robert’s hospital records and found he had increased wall thickness of the left ventricle and a gradient—a pressure difference between the left ventricle and the aorta when the heart pumps. These findings were consistent with a condition called hypertrophic cardiomyopathy (HCM). Characterized by abnormal thickening of the heart muscle, this disease makes it difficult for the heart to pump blood effectively.

Dr. Caras referred Robert to Dr. Melissa Burroughs, an HCM specialist at Wellstar. As a Center of Excellence designated by the Hypertrophic Cardiomyopathy Association, Wellstar is one of the leading providers of comprehensive HCM care in Metro Atlanta.

“We have physicians in the group—designated HCM specialists—that are the point person of the patient’s care,” Dr. Burroughs explained. “This includes close communication and collaboration with electrophysiologists, surgeons, advanced heart failure specialists, social workers and behavioral health professionals.”

A rare finding leads to Mayo Clinic Care Network collaboration

Robert said, “Dr. Burroughs wanted to do genetic testing to verify that I had HCM.”

But genetic testing revealed a rare genetic variant—one not known to be associated with HCM. Dr. Burroughs called it a “diagnostic conundrum.” The genetic variant found was typically associated with a different cardiac disease that Robert did not have. However, he did have clear signs of HCM.

To investigate further, Dr. Burroughs collaborated with other HCM experts through the Mayo Clinic Care Network, of which Wellstar is a member. Mayo Clinic, which is also an HCM Center of Excellence, provided access to its unpublished database, finding Robert’s rare mutation was present in two other family groups with HCM.

“It’s very important that we add to the science—that we include our patients in the registry to enhance what is already known about HCM,” Dr. Burroughs said.

Robert added, “Dr. Burroughs is very persistent. She wanted to know, ‘Why are you having these problems? What’s the root cause?’ She went above and beyond to find that out.”

It’s been life-changing to me that my doctors took the time to listen.

– Robert Frederick

Patient

Genetic discovery for a whole family

The genetic nature of Robert’s condition also prompted a crucial step: screening his family. Dr. Burroughs worked with a Wellstar genetic counselor to screen six Frederick family members.

“I was very proud that we could offer a streamlined process to get genetic testing and follow up for family members,” Dr. Burroughs said.

Furthermore, she praised them, explaining that a united, proactive stance isn’t always common.

“She’s been all in with my whole family,” Robert expressed gratefully. “We’re all thinking about our health. We want to be there for each other.”

New FDA-approved medication offers hope

With the HCM diagnosis confirmed, Robert began to take Camzyos, a new FDA-approved myosin inhibitor with the specific purpose of treating HCM. The medication helps relax the thickened heart muscle, reducing obstruction and improving blood flow.

“Camzyos gave me parts of my life back, being able to get around and have energy,” Robert said, adding that Dr. Burroughs also worked to get his blood pressure practically perfect, helping him lower his risk for conditions like heart attack and stroke.

Getting AFib under control with ablation

Meanwhile, Robert saw Dr. Cesar Egoavil, a Wellstar electrophysiologist who treats AFib. Dr. Egoavil recommended a cardiac ablation procedure to correct Robert’s uncontrolled AFib. Ablation involves creating scar tissue on the heart with heat or cold, aiming to correct irregular heart rhythms.

“It’s been life-changing to me that my doctors took the time to listen,” Robert said of his experience with Wellstar.

A reason to continue making healthy choices

Beyond medication and ablation, Robert’s personalized treatment plan included making lifestyle changes. Dr. Burroughs referred him to Dr. Mitzi Rubin at the Wellstar Center for Best Health for weight management.

“The Center for Best Health is a comprehensive metabolic center with physicians, nurse practitioners, dietitians, exercise physiologists, psychologists and support groups working together,” she said. “We really work on the whole patient to help them be successful.”

Dr. Rubin helped Robert develop a plan to achieve his goal to “lose weight, be more active and start living his life,” which included working with a dietitian and attending a medically supervised exercise program at Wellstar Cardiac Rehabilitation. He praised his Cardiac Rehab nurse, Cindy Spencer, for encouraging him and helping him build life-long healthy heart habits during three sessions a week for 34 weeks.

“After I graduated Cardiac Rehab, she told me that needed to join a gym to continue my progress,” Robert said. At the program’s completion, he began working out four to five days a week at Wellstar Health Place.

“This is all about making that lifestyle change,” Dr. Rubin said. “Robert’s more energetic, more confident, able to do more—and wants to do more. Those are the wins you can’t put a price tag on. He has totally transformed his life.”

At the time this article was published, Robert had lost 20 pounds—and had a new motivation to stay healthy.

“My daughter just had a baby,” he swelled with pride. “That’s my first grandchild. I want to be part of his life. That means I need to have the energy to be in his life.”