An Oregon Health & Science University patient recently returned from a whirlwind trip to Switzerland that was made possible only after overcoming a potentially fatal inherited heart condition.
Megan Link, 25, of Sandy, was born with a gene mutation that causes her heart muscle to thicken, which makes it difficult for her heart to pump blood throughout her body. Hypertrophic cardiomyopathy, also known as HCM, impacts about 1 in 500 people, and is the most common cause of sudden death for youth and otherwise healthy athletes.
But thanks to participation in a clinical trial at OHSU, a new treatment has taken Link from struggling through the slightest exertion to intercontinental adventures.
In mid-May, Link traveled to Geneva to share her experiences with hypertrophic cardiomyopathy at the World Heart Summit, an international gathering of health, government and business leaders focused on improving global cardiovascular health.
“It was empowering to have heart experts from all over the world wanting to hear from patients like me,” Link said. “I hope my story will help more doctors to consider both the physical and the emotional impact that a chronic heart condition can have on patients.”
‘That was my normal’
When Link was born, a doctor heard an abnormal whooshing sound, or murmur, in her heart. Tests revealed she had hypertrophic cardiomyopathy, which would cause the wall of muscle tissue separating her heart’s two lower chambers, known as the septum, to become thicker and thicker over time. That diagnosis led to a lifetime of ups and downs.
While growing up in Clackamas County, Link avoided over-exerting her heart by limiting her involvement in physical activity and sports.
“I always knew my limit, and would get tired doing things that other kids could do,” Link said. “That was my normal.”
When she was in middle school, she had a pacemaker implanted that enabled her to play softball as well as hunt, hike and camp while having the reassurance that, if her heart struggled while she was active, it would receive some therapy right away. But by the time she was in high school, she could barely walk without feeling dizzy. She was prescribed medications to reduce the fluid that was accumulating in her lungs due to her poorly performing heart.
By the time she was in community college, she began receiving care at the OHSU Hypertrophic Cardiomyopathy Center, where physicians recommended open-heart surgery. Link was 20 years old when OHSU cardiothoracic surgeon Howard K. Song, M.D., Ph.D., and then-OHSU cardiologist Stephen Heitner, M.D., performed a septal myectomy to remove some excess heart muscle.
After six months of recovery and cardiac rehab, Link said she felt “1,000 times better.” She started a job at a local gym, where she worked out and got into the best shape of her life. At age 22, she completed a medical assistant program and started caring for patients at a local outpatient clinic.
Research leads to a new chapter
When the COVID-19 pandemic hit in 2020, her heart’s condition was once again declining. OHSU cardiologist and the Knight Cardiovascular Institute Hypertrophic Cardiomyopathy Center Director Ahmad Masri, M.D., M.S., told her that an investigational drug, aficamten, was being developed as a potential treatment for non-obstructive hypertrophic cardiomyopathy, the specific type that Link now has, but for which there is currently no approved medication.
Aficamten is designed to help the heart work more efficiently and prevent its muscles from bulking up when they work harder than needed for long periods of time. In April 2021, Link began taking the research drug as an OHSU participant in a Phase 2 clinical trial that is sponsored by the drug’s developer, Cytokinetics. Within two weeks, Link experienced noteworthy improvements.
“I used to get really winded while going up the one flight of stairs leading to my apartment,” Link said. “But after starting the trial, I told Dr. Masri that I could probably go up and down the stairs five times without feeling anything.”
“Participating in the trial has been awesome,” she continued. “It’s given me so many opportunities that I never thought I would have — including going to Switzerland. Part of me still doesn’t believe it’s true.”
Just a few days after Link spoke in Switzerland, Masri presented results from the trial at a different international cardiology conference. Ten weeks after participants in that trial began receiving aficamten, 58% had symptom improvement. Ongoing research continues to study the drug’s effectiveness and safety in people like Link through a Phase 3 clinical trial called SEQUOIA-HCM; results are expected by the end of 2023.
“We’re working to improve treatment options and advance our understanding of hypertrophic cardiomyopathy so patients like Megan are able to live their lives to the fullest,” Masri said.
Thanks to her good health, Link is able to move onto the next chapter of her own life. Her long-time boyfriend and best friend joined her in Switzerland, which they toured together after the World Heart Summit was over. In between admiring the majestic Alps and strolling through cobblestone streets, her boyfriend proposed. Link enthusiastically accepted.
