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, an 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
called hypertrophic cardiomyopathy, sometimes shorthanded as HCM.
The physician recommended Cooper and his mother go to Stanford
Hospital & Clinics, where Euan Ashley, MD,
PhD, heads the Hypertrophic
Cardiomyopathy Center, one of a few clinics in the world devoted
to the diagnosis and treatment of the condition.
"From the moment we first met Dr. Ashley at Stanford," said
Paulette Cooper, "I felt we were sitting in a room with a doctor
who really cared – a really gentle person, a really caring 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.
"I've always been fascinated by the heart as an organ," he
said. "It's a phenomenal thing that can power Olympic athletes
but holds an 80-year-old woman to her chair, not able to walk."
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.
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 six 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.'"
Recognizing the Unusual
Stanford's center is a place where hypertrophic cardiomyopathy 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. And there had been
others in the family who had died young, stricken with sudden heart
attacks. But she had had no clue that that history might be reflected
in her son's heart health.
Often, the symptoms 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 had long experience with the surgery sometimes
performed to counteract the obstruction to blood flow caused by the
condition. 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 cutting back on his strenuous physical workouts, Cooper's
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."
The Next Steps
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 heart condition face "something they’re going
to be dealing with for the rest of their life," said Heidi
Salisbury, a nurse who has worked with Ashley at the center for
several years. "We encourage our 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
four years old – why does it have to be this? 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. I thought of all the families who
have no idea and sudden death is how they realized that their son or
daughter had this condition."
"James has gone through some hard times, being angry and
disappointed. It's been hard for him, but once he had the
defibrillator put in, his goal was to help other people like him. He
wanted to reach out and talk to others and help them."
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,"