By Tracie White
Illustration by Shout
March 7, 2006. At first, the heart monitor beeps regular and strong. A nice, smooth rhythm. Beep. Beep. Beep. It’s such a big heart, ballooned out to the size of a volleyball or, perhaps you could even say, a rugby ball. The routine insertion of a defibrillator into 18-year-old Joe Matthews’ chest in the cath lab at Stanford Hospital has gone well.
And then, suddenly, it hasn’t gone well at all. The young athlete’s blood pressure drops, then crashes frighteningly low. His heart’s not working. Matthews is in cardiac arrest.
One minute elapses.
Pandemonium breaks out.
The medical personnel start CPR, rapid compressions to his chest. His oversized heart is just too flabby and weak to pump enough blood through his arteries to keep him alive. Pump. Pump. Pump. Paul Wang, MD, director of the arrhythmia service, phones in from his clinic to see how the procedure is going. He immediately shows up at the patient’s side and phones the on-call surgeon.
Five minutes elapse.
“This is a code blue. This guy’s in trouble. Who’s the surgeon on call? He needs you badly.”
“I’m on call,” says Robert Robbins, MD, chief cardiothoracic surgeon, picking up the phone in his office in the building next door. “What’s happening?” He sends out a page to his operating team members. It’s about 5 p.m., when they normally head home, yet miraculously they hear the page and turn around to come back in.
Fifteen minutes elapse.
The cath lab team transfers Matthews to a stretcher while continuing CPR. The anesthesiologist gets him prepped for surgery. Matthews is going to need an artificial assist device, a mechanical heart pump, to keep him alive. Something evil and mysterious destroyed this kid’s heart. And no one knows why. Robbins joins the crew pushing the stretcher to the surgery theater next door. Then rushes upstairs to put on his scrubs.
Getting ready to cut Matthews’ rugby-ball-sized heart open wide.
Thirty minutes elapse.
Joe Matthews is dying.
Joe Matthews follows his daily routine the morning of Wednesday, Feb. 22, 2006. He drives with one of his rugby mates to Cabrillo College in Aptos, Calif., parks the car across the street, then the two race each other up the stairs to the bridge that crosses Soquel Avenue to get to class. The usual fog blankets the town, which hugs Monterey Bay, a chill wind whipping off the sea.
Matthews, of course, wins the foot race even in flip-flops. He always has to be the best, the fastest, the strongest, the friendliest. He knows that every day is going to be great, that every stranger is just waiting to be his friend. He just doesn’t “do” second place.
But, this morning the English bloke doesn’t feel like his usual cocky self. He’s fatigued, exhausted still from Saturday’s rugby game. He even has to pause occasionally to catch his breath.
At 18 years old, fit as anything, English Joe, as he likes to be called, spends hours every day surfing, skateboarding, playing rugby and practicing rugby. He’s living his California dream after all, training to get a rugby scholarship to the best rugby university in the nation, UC-Berkeley. But since returning from his visit home to Lowestoft, England, for Christmas, he’s been coughing a bit, sniffling sometimes. Maybe it’s bronchitis, maybe the flu. He figures he’ll finally stop off at the health clinic on campus to see if he can get some meds. Snap him out of it.
Then he’ll go check out the surf.
What Matthews doesn’t know yet is that he doesn’t have bronchitis or even a touch of the flu. A killer disease has already entered his chest, attacking his heart, turning it into a ticking time bomb. He could drop dead at any moment, laid out flat on the rugby field, or slipping quietly off his surfboard to disappear on the bottom of the sea.
Every muscle in Matthews’ body is in peak shape, his quads, his biceps, triceps. Every muscle, that is, except the most important one. Hidden inside his rib cage, his heart is sloshing along instead of beating strong, shockingly weak and flabby. Instead of the normal fist size, it had stretched out to the bulk of a rugby ball. It’s barely pumping blood through his arteries at all.
Only something truly frightening can destroy a heart as healthy and strong as English Joe’s, an athlete who doesn’t smoke, doesn’t have high blood pressure, isn’t obese, rarely even has a beer after a rugby game. A disease that attacks without warning, irrespective of age, fitness level, family history.
It’s a disease that strikes millions more just like Matthews. And it’s a killer.
Only scientists hidden in laboratories have begun to catch the scent of the serial killer’s trail. And they’re too late for Matthews.
Matthews gets back into the car after visiting the campus doc and heads north on Soquel Drive toward Dominican Hospital, surprised but not particularly concerned he’s been instructed to get X-rays right away. He stops along the way to get a deli sandwich, bemused that the doctor calls him on his cell and berates him for taking so long to get to the hospital.
“Are you there yet?” she snaps. “You promised me you’d go straight there!”
By that evening, Matthews will be checked into the hospital’s heart ward. Over the next few days, he will be given diuretics and heart medications — ACE inhibitors, beta-blockers. He’s been told the doctors saw something they’re worried about on his chest X-ray, but he still doesn’t know what’s wrong. And he’s not particularly worried. How could anything be really wrong?
The cheeky fellow keeps himself busy, annoying the nurses by disappearing to the roof of the hospital to sunbathe. A few days pass, then a few more. Matthews celebrates his 19th birthday in the hospital, entertaining a crowd of rugby mates. They show up with a deck of cards, kick him out of bed and spread the poker game across the blankets.
And then he gets the news. His cardiologist, James Glancy, MD, and his dad, Tony, who’s flown in from England, sit down with him in his hospital room. His dad holds his hand. The diagnosis is heart failure caused by cardiomyopathy, which literally means he’s got a disease of the heart muscle. The culprit has attacked his heart, stretching it out until it’s so weak it barely functions at all. Medications, which often help in cases like his, disappointingly haven’t done so. In Matthews’ particular case, he has a bad arrhythmia and his heart needs to be fitted with a defibrillator right away. Without it, he could die.
All English Joe really hears that day is that he’ll never be able to play contact sports again. No more rugby. All that California dreamin’ at an end.
When Matthews arrived at Dominican Hospital that day in February, his cardiologist examined the large shadow on his chest X-ray, lined up the usual suspects and began the process of elimination. Either the shadow was caused by swelling of the sac that holds the heart and not so serious, or the heart itself was enlarged and Matthews was in danger.
After looking at the pictures of the heart from a follow-up echocardiogram and noting the symptoms — shortness of breath, fluid in his lungs, heart arrhythmia — Glancy knew Matthews was in trouble.
“Unfortunately the heart was quite large and not squeezing well,” Glancy says. The diagnosis was heart failure caused by cardiomyopathy. Shortness of breath, arrhythmia, water retention in the lungs — they’re all symptoms of heart failure. It’s a particularly baffling diagnosis and not just because Matthews was so young and such a fitness maniac.
The term heart failure is confusing in itself. It gives the impression that the heart stops entirely, but that’s not the case. It just doesn’t work as well as it should. About half the time, heart failure is due to coronary artery disease, a weakening of the arteries that has multiple causes including smoking, diabetes, high blood pressure, obesity and lack of exercise. Often patients respond well to treatment with heart medications and diuretics for the water retention and can live fairly healthy lives with the disorder. Left uncontrolled it can be fatal.
Glancy ruled out hypertrophic cardiomyopathy, a familial cause of heart failure that presents itself as an abnormal thickening of the heart — not an enlarged heart like English Joe’s. That condition has been held responsible for the sudden deaths of several famous athletes, like Hank Gathers, Loyola Marymount University basketball star.
He ruled out coronary artery disease due to Matthews’ age and fitness level, ruled out alcohol abuse and drug abuse.
And came up with the only label left: idiopathic dilated cardiomyopathy, with idiopathic meaning disease of unknown origins, dilated meaning enlarged. Idiopathic dilated cardiomyopathy is the cause of about half of all heart transplantations.
Matthews is one of 3 million people in the United States with cardiomyopathy, a contributing factor in nearly a quarter of a million deaths each year. It destroys heart muscle and, in many cases like Matthews’, results in heart failure. While medications sometimes help, currently the only known cure is a heart transplant.
“I thought, ‘OK, we’ve got this very dysfunctional heart, and we want to protect against having a fatal event,’ ” Glancy says. He wants to get Matthews a defibrillator, a fancy pacemaker that gets inserted into the pocket below the collarbone. The defibrillator monitors the heart rate and delivers an electrical shock when the heart gets out of whack. If all goes well, that shock sets the heart beat back on track.
Glancy refers Matthews to Stanford for the defibrillator insertion. “I wanted Joe to go to Stanford [for the defibrillator insertion] because he was young and had severe heart dysfunction. I wanted him in their system,” says Glancy. Dominican isn’t equipped to do heart transplants. If Matthews ended up needing a heart transplant, he would need to be at Stanford.
Growing up in a small town on the eastern coast of England, Matthews and his mates surfed occasionally whenever a good swell hit the shoreline. But his true passion was always rugby. Coached by his dad from the age of 4, he showed his natural abilities early on — speed, vision and most of all a contagious passion for the game. It was his never-give-up attitude that made coaches want him on their team.
Matthews discovered a world outside of Lowestoft on a trip to Aptos when he was 15 to visit Rod Caborn, a rugby-playing friend of his father’s from the same hometown.
“He was a long boarder, a skateboarder; he fit in perfectly with the culture here,” Caborn says. “We invited him to play with our rugby team, since he was so talented and had such a spark. And that was kind of how it all began.”
The diagnosis was heart failure caused by cardiomyopathy. Shortness of breath, arrhythmia, water retention in the lungs — they’re all symptoms of heart failure.It’s a particularly baffling diagnosis and not just because Matthews was so young and such a fitness maniac.
California became Matthews’ dream. And when he was 18, he moved in with the Caborn family, planning to stay for a year, signing up for digital media courses at Cabrillo College and playing for the Aptos Beach Dogs rugby club. It took about 10 minutes for this Brit to turn full-fledged California surfer dude, everything except for the English accent. Billabong T-shirts, flip-flops, rugby shorts and bleached white surfer’s hair sticking out at uncombed angles. Tanned and happy, a rugby ball and surfboard attached at the hip.
Killin’ it dude.
Making his dreams come true.
Robert Robbins always shows up one step behind this killer, rushing in to try to save its victims’ lives. He’s got the bloody job of carving open damaged hearts to insert artificial pumping machines. Or pulling out diseased and dying hearts to put in a healthy donor heart. Or worse yet, trying to explain to family members what it is exactly that killed their child.
Robbins has a long history of cleaning up after this mess. A total of 200 heart transplants and heart pump insertions to his name. He’s followed in the footsteps of some famous clean-up artists at Stanford starting with Norm Shumway, MD, who at Stanford conducted the first successful heart transplant in the United States some 40 years ago. And pioneers like Peer Portner, PhD, who developed the first implanted electric heart-assist pump.
And while Robbins acknowledges the amazing successes of these techniques, he’d rather they weren’t needed at all. He wants to put this type of heart surgery out of business.
Cases like English Joe’s frustrate the heck out of him:
“Here’s this 18-year-old exercise freak, who didn’t smoke, didn’t drink, fit as anything,” says Robbins. “And yet I could barely get both my hands around his heart, and it barely moved. Why did his heart fail? His heart muscle looked normal. It just didn’t work. And we have no idea what caused it.”
The best traps for this killer will emerge from the work of researchers in basic science laboratories, Robbins says. Molecular biologists, geneticists, endocrinologists are piecing together clues they hope will not only provide better treatment for idiopathic cardiomyopathy’s victims but could stop it before it attacks.
Most researchers agree, it’s likely that cardiomyopathy has multiple causes.
“Everyone has their own theory,” Robbins says. “Some say it’s a virus. Often times these patients will say they had the flu six months ago. Genetic mutations are another. There’s no one single thing, I’m sure. It’s like thinking, ‘What causes cancer?’ It’s complex.”
Often patients with dilated idiopathic cardiomyopathy are told that a virus attacked their heart. It’s explained this way: For some unknown reason, a virus assaults the heart, causing an inflammatory response. Hundreds of different viruses can cause this response, leaving damaged scar tissue behind. By the time a patient is diagnosed with heart failure, the virus is long gone.
Matthews was told this might have happened in his case, with the enormous caveat that nobody really knows for sure. It’s a convenient answer to patients desperate to know why their heart failed.
“It’s really difficult to diagnose,” says Douglas Mann, MD, professor and chief of the cardiovascular division at Washington University School of Medicine in St. Louis. His lab is conducting anti-viral therapy trials as a potential treatment for viral causes of cardiomyopathy. He describes these attempts as a bit like developing a vaccine for a flu epidemic but without knowing the types of virus or the true incidence of the epidemic.
The genes of those stricken with cardiomyopathy offer other particularly compelling clues.
In the early 1990s a Mayo Clinic study revealed that at least 20 to 30 percent of idiopathic cardiomyopathy cases stemmed from an inherited abnormal gene. It was a surprise finding that set in motion research efforts around the world to identify other genes that might contribute to the cause of the disease.
“It really made people think of this disease as a genetic disorder,” says Timothy Olson, MD, director of the cardiovascular genetics lab at the Mayo Clinic in Rochester, Minn. Since that first study, about 25 additional genes have been identified as a cause of the disorder.
“What’s been proven to be true is that there is no single gene that explains all cases of the disease,” says Olson. “We’re still in the stage of discovering new genes. And we may only be seeing the tip of the iceberg.”
The goal is to eliminate the need to label cases as idiopathic — cause unknown. First, researchers must have a better understanding of all or most of the common genes for cardiomyopathy, Olson says.
“Here’s this 18-year-old exercise freak, who didn’t smoke, didn’t drink, fit as anything,” says Robbins. “And yet I could barely get both my hands around his heart, and it barely moved. Why did his heart fail? His heart muscle looked normal. It just didn’t work.”
“If you can identify the underlying cause, the hope is that you can develop more specific treatments,” Olson says. “In family cases, you can screen younger family members to see if they are at risk and take preventive measures.”
With the current state of medical technology for genetic mapping, this could take decades. But researchers are hopeful that advances in technology will speed up the process.
The first mapping of the human genome, the Human Genome Project, was completed in 2003 and cost $3 billion, Olson points out. Just recently, in August, Stanford University’s Stephen Quake, PhD, professor of bioengineering, announced he sequenced his own genome for less than $50,000. The speculation is that within several more years the cost could drop to as low as $1,000.
Overall knowledge in the field of heart failure has grown considerably over recent years, as has the breadth of research, experts say, paralleling the growth of the problem. Funding, though, remains much lower than for other areas of health research such as cancer. The National Institutes of Health spends only 4 percent of its overall budget for heart research.
And while cures or prevention methods are still years away, researchers remain hopeful that advances in research will make new treatments available to patients in the near future.
Panic. Blind panic. For three days after his defibrillator implant, Matthews thrashes around in a state of delirium, battling his nurses in the ICU at Stanford, struggling to get out of bed. Trying to rip those tubes out of his abs and get back to rugby practice. His family and friends are frantic. He could be brain damaged, he could be physically disabled. His heart had stopped for an hour.
And then, he’s just fine.
While CPR was still keeping Joe alive, on-call surgeon Robbins cut his chest open, pulled apart his sternum and opened his heart. After a 10-hour operation, Robbins’ team implanted an electric pump, a left ventricular assist device, that saved Matthews’ life.
Now English Joe has a 10-inch slice down the middle of his chest and his life depends on a 400-pound machine that’s pumping blood into his body through two tubes stuck into his stomach. If that ticking sound next to his bed stops, he dies.
Except for the fact that he looks like the skeletal remains of himself, and that he needs a new heart, Matthews is in pretty good condition. Now all he has to do, Robbins tells him, is to get into good physical shape so they can place him on the heart donor recipient list. Pack on some of those 50 pounds he’s lost, and get a little exercise.
Matthews wakes up the next morning, climbs out of bed, smirks at the exercise bike his dad has placed next to the bed and gets to work. The athlete is back in the race.
In the basement of the Falk Cardiovascular Research Building next door to Stanford Hospital, kept in a small vial in a minus-80-degree freezer is a tiny piece of Joe Matthews’ heart. It’s one of 970 heart samples that research associate Aleksandra Pavlovic has collected for the tissue bank she’s been building up over the past four years for use in heart research.
Pavlovic pulls on pale yellow gloves to examine the evidence, expert now at carving out pieces of tissue from diseased hearts. She chops the pieces up, then deposits the tiny samples in vials and carries them to the dimly lit basement, the hidden lair of research scientists and mice.
For three years, she’s been working in the basement extracting the DNA — the blueprint for making protein — from the heart tissue and blood samples of heart failure patients.
“This is the first study to come out of the tissue bank,” says Pavlovic, who works in the lab of Euan Ashley, MD, PhD, an assistant professor of cardiovascular medicine. “It’s a pharmacogenetics study. We’re genotyping the DNA of heart failure patients — trying to find out why some patients get better on meds like ACE inhibitors and beta blockers, and some don’t.” Pharmacogenetics, also known as personalized medicine, uses an individual’s genetic makeup to guide treatments.
It also holds promise for future drug development. Results from studies like this one at Stanford could help doctors tailor treatment plans according to each patient’s genetic profile, improving outcomes.
“To solve the issue, clearly you need physician-scientists, and there are fewer of them around these days,” Ashley says. The percentage of physicians engaged in medical research has declined nationally over recent decades, curtailing investigations of this kind.
Pavlovic has shipped 750 DNA samples to the genome-sequencing center at the University of Alabama and now she and the other researchers await the results. If they’re lucky, they’ll reveal which genetic profiles indicate a good response to a particular treatment and which portend a poor one.
It’s 26 days since Matthews’ near-death experience. Each morning at 5, a nurse shows up in his hospital room to take a blood sample. And so it goes for the rest of the day. After two weeks of being poked and prodded, working out on the exercise bike, plodding laps around the ward with four nurses pushing along the massive heart pump behind him, Matthews decides he needs a break.
He’s not worried about getting a donor heart. With all the stormy weather outside — it even snows in mild Aptos — the highways are slick and dangerous. Fatal car accidents are likely. He tries not to think about the fact that someone has to die for him to live.
That afternoon, Matthews curls up in bed with his mum and his girlfriend by his side to watch the movie Forrest Gump on TV. The rain slaps against the windowpane. Two hours later, as the credits scroll, a nurse knocks on the door. And the sun comes out.
“Ever so sorry to disturb you, but we’ve got a heart for you, Joe.”
Matthews looks calm as anything as they roll him away. He’s got his iPod plugged into his ears playing Bob Marley, then puts Hotel California on repeat mode. He kisses his mum and dad goodbye, and they roll him away.
Joe Matthews is 23 years old today. A year after his heart transplant he ran his first marathon and hasn’t stopped running since. He doesn’t know whose heart replaced his, but he wants the family to know that he will always do his best to live his life to the fullest, to take advantage of that amazing gift.
“Trust me when I say your loved one’s heart will get a good life,” he says.
He’s living in England, back in college, working part time at a pub. He’s considering playing rugby again.
Tracie White is at