Heart condition diagnosis and prompt treatment save athlete from potentially fatal consequences

Norbert von der GroebenJames Cooper

Paulette Cooper urged her son, James, to go for a cardiac exam. After learning he had a potentially fatal heart disease, hypertrophic cardiomyopathy, he quit high school sports.

High school senior James Cooper and his mother laughed at first when, in the middle of a sports physical, the examiner mentioned that the young man’s arm span was suggestive of Marfan syndrome, a connective tissue disease that can seriously affect the heart. Cooper was otherwise in the peak of youthful fitness, working out four to five hours a day and playing several competitive sports.

“But a couple of weeks later my mom said, ‘Maybe we should get you checked out, just to be safe,’” Cooper said. This exam, with a cardiac specialist, included an ECG, a non-invasive test that can identify potentially dangerous heart conditions by measuring the heart’s electrical activity. When his mother, a former U.S. Navy medic, saw the look of that ECG and the physician’s scrutiny of it, she knew something was wrong. “That’s when my heart dropped,” she said. Cooper did not have Marfan’s, but the specialist was fairly certain he did have a genetic heart condition, hypertrophic cardiomyopathy, or HCM.

The physician recommended Cooper and his mother go to Stanford Hospital & Clinics, where Euan Ashley, MD, PhD, heads the Hypertrophic Cardiomyopathy Center, which is one of a few clinics in the world devoted to the diagnosis and treatment of this condition.

“From the moment we met Dr. Ashley,” said Paulette Cooper, “I felt we were sitting in a room with a doctor who really cared — a really gentle person who was not rushing us through, not treating us like he had a waiting room full of other people he had to see. His staff was amazing, too. I felt we were in a really good place.”

Ashley, himself an athlete as a youth, developed an early clinical and research interest in heart health, including that specific to the kind of activity athletes ask of their bodies. He suspected Cooper had HCM, but also thought some of the behavior of Cooper’s heart might be the result of his heavy athletic training, so he ordered the young man to take a break.

Key facts about hypertrophic cardiomyopathy

• Hypertrophic cardiomyopathy is a disease of the heart muscle which causes certain areas to enlarge and obstruct blood flow. Typically, it’s inherited and can affect both children and adults.

• Symptoms don’t always appear in the early stages of the disease, but later can include dizziness, shortness of breath, fatigue and swelling of legs, ankles and feet.

• Treatments include medication to alter how the heart muscle acts, surgery to remove a portion of the thickened heart muscle or implantation of a defibrillator, which starts the heart if it stops.

• Anyone with a family history of unexplained early cardiac death should think about screening and genetic testing.

• Euan Ashley, MD, PhD, recommends that young athletes be evaluated by a physician before they begin to do sports. Adults with family history of heart issues should see a physician to address their risk factors. The disease can show itself in adults into their 40s and 50s.

For more information, visit stanfordhealthcare.org. Video talks by Ashley can be viewed at healthlibrary.stanford.edu. Contact the Hypertrophic Cardiomyopathy Clinic at 736-1384.

That enforced inactivity was a major blow to Cooper. Sitting on the bench and watching his classmates playing team sports was the complete opposite of a path he had followed since he was 6 years old and ran his first 10k. “I wasn’t feeling too good about myself,” he said.

As such a change might affect any young athlete, “that just about took the rug out from under him,” said Cooper’s mother. “This was a kid who worked out four to five hours a day, without a coach. It was hard for him just to suddenly stop. Everybody’s saying, ‘I’m sure you’re fine,’ and James is sitting there saying, ‘I hope so, but there’s something happening.’’’

Stanford’s center is a place where HCM is understood as a condition that can be found, as it was in Cooper, in the most athletic of patients. It is caused by genetic mutations that change the structure of the heart’s muscle cells, thickening them and disrupting the flow and force of blood through its chambers. It is the most common cause of sudden death in young people and the most common form of inherited cardiovascular disease.

Cooper’s mother knew her grandmother had been in and out of the hospital, treated for congestive heart failure. Others in the family had died young, stricken with sudden heart attacks. But she had no idea that this history might be reflected in her son’s heart health.

Often, the symptoms of HCM — chest pain, fainting, palpitations — can be misdiagnosed. Genetic testing is still evolving, but only at a few places, like Stanford, is it available.

The center has much experience with the surgery sometimes performed to counteract HCM’s obstruction to blood flow. Few surgeons specialize in that surgery, Ashley said. It calls for judgment and experience. “You might only make a small number of cuts, but they make a very big difference,” he said.

Even after Cooper reduced his strenuous physical workouts, his heart still showed the disturbing abnormalities and Ashley presented Cooper with his choices. “He said I could continue living my life as I had before and have the possibility of suddenly dropping dead. Or, I could get a defibrillator or we could talk about medications like beta blockers.” Surgery was not an option in his case.

Cooper chose the defibrillator. Compared to his pre-diagnosis lifestyle, his physical activity now is quite restricted – he’s not allowed to push his body in ways that significantly raise his heart rate. That means no marathons. And no more competitive sports. But Cooper’s personality fights against the restrictions.

People with this condition face “something they’re going to be dealing with for the rest of their life,” said Heidi Salisbury, a nurse at the center. “We encourage patients to learn as much as possible about their condition, to make the necessary changes in behavior and lifestyle and then to live a high quality of life.”

Cooper is both the worst- and best-case scenario, she said. “He epitomizes a young man, playing basketball, who could have died of cardiac arrest. He had no idea he had this disease or the severity of the disease. He had a higher chance of death than others. But he was a save.”

“I’ve been living with it for awhile now, it’s not something I dwell on,” Cooper said. “ I’m in a good place now. It’s not something I fear.”

“For a long time, I went through a lot of difficult feelings,” said his mother. “On one side, I thought, ‘This isn’t fair. Here’s a kid who wanted to be a firefighter since he was 4 years old. If this was a kid who played videogames all day, it wouldn’t have had the impact. On the other side, thank God we found out.”

Cooper took part in last year’s Stanford HCM Patient Day. He ran on a treadmill in front of the 75 attendees, demonstrating the importance of remaining active while exercising within the necessary restrictions. His internal defibrillator, about the diameter of a can of shoe polish, was visible below the surface of his skin. “That visual of seeing him run was really inspiring to the audience,” Ashley said.

His internal defibrillator is routinely monitored, but doesn’t need much maintenance except for its battery, which lasts for an average of 10 years. The technology is improving continually, Salisbury said. His medical team monitors Cooper’s activity remotely, so they know when he’s pushing the limit. “It’s hard to change your behavior when you’re young and vital,” she said. “But we are here to support every patient and their family for the long run. This is a process and James is living proof of our mission.”

Sara Wykes is a writer for the Stanford Hospital & Clinics communications office.

Stanford Medicine integrates research, medical education and health care at its three institutions - Stanford University School of Medicine, Stanford Health Care (formerly Stanford Hospital & Clinics), and Lucile Packard Children's Hospital Stanford. For more information, please visit the Office of Communication & Public Affairs site at http://mednews.stanford.edu.

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