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Phillip Goldfarb
When his 2-year-old son went into cardiac failure, the author and his wife found themselves plunged headlong into the brave new world of pediatric heart transplantation.

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Above: Jean Kan concentrates during a cardiac catherization on a 4-year-old patient with congenital heart disease.

Austin Swanson

Phillip Goldfarb
Two Children in heart failure: Austin Swanson (top), the day before his heart transplant, and Phillip Goldfarb, shortly before he landed in intensive care.

Normally, children’s hearts are about the size of their fist. Phil’s heart was the size of an adult’s heart; it occupied 80 percent of the volume of his chest.

Austin Swanson

Phillip Goldfarb
What treatment can do: Recent photos of smiling Austin (top) and Phillip at his karate lesson, show the two are definitely alive and kicking.

To our utter disbelief, the study revealed Phil’s heart had regained its normal size and function.

Duke Cameron
Pediatric heart surgeon
Duke Cameron, who
performed Austin Swanson's
transplant, tackles puzzling
cases referred from
around the country.

The Heart of the Matter

By Bruce Goldfarb

When his 2-year-old son went into cardiac failure, the author and his wife found themselves plunged headlong into the brave new world of pediatric heart transplantation

y the time our toddler son’s pediatrician called at 5:30 p.m. on that May afternoon four years ago, Phillip had been sick for more than a month. He sounded congested, air bubbling through his lungs like wet sponges. My wife, Nancy, and I had taken him repeatedly to the doctor, first trying a round of antibiotic in case Phil had an upper airway infection, and then a different medication when the doctor suspected asthma. We even tried sitting for hours in the darkened bathroom as the shower filled the room with warm mist. Nothing helped.

Phil kept getting sicker, and we, his increasingly desperate parents, called the pediatrician almost daily. We had the feeling, though, that we were being dismissed as overly worried types. Nancy and I knew better. Our delightful, doe-eyed child, just shy of his second year, wouldn’t eat or drink. His diapers remained dry. He couldn’t sleep for more than 15 minutes at a time, and he’d sit up every few minutes in his crib, labored breaths punctuated by plaintive cries. We were exhausted and frazzled.

Finally, on this spring day, the pediatrician had sent us for a chest X-ray to rule out pneumonia. And now, with this phone call, he at last offered us a definitive clue as to what was wrong with our son—one we never expected. “We found something on the chest X-ray,” he reported. “Phillip’s heart is enlarged. I want you to see a pediatric cardiologist and schedule an echocardiogram.”

I listened carefully to this doctor’s voice, trying to discern any sense of urgency. How soon should we do this? “Right away,” he said. “You need to get in first thing in the morning, tonight if possible.”

By 7:30 the next morning, Phil had seen a cardiologist who had sent him immediately on to the cardiac echo labs at The Johns Hopkins Hospital. There, a young pediatric cardiology fellow hovered around us like a security guard keeping an eye on a shoplifter. It was clear the Hopkins doctors were worried. Months later, I learned the extent of that worry. Barry Byrne, M.D. (he’s since moved to the University of Florida), told us the severity of Phil’s illness had been immediately obvious. “We could tell from taking one look at him that he was going straight into intensive care.” And Anne Murphy, M.D., admitted that Phil’s presentation was their worst nightmare.

The cardiac echo produced startling numbers. One important measure of the health of the human heart, the ejection fraction, indicates how efficiently the heart is pumping. Normally, the left ventricle pumps about 60 percent of its volume each time the heart beats. Phil’s ejection fraction was 17 percent, barely twitching at all. Our son was in life-threatening heart failure. His lungs weren’t congested by a cold or asthma; he was literally drowning in his own fluids.

Valves, Vessels and Wiring

The human heart is an extraordinary device; an intricate arrangement of chambers, valves, blood vessels and specialized wiring that all work together in exquisite synchrony. There is, however, only one way for the heart to grow correctly and a seemingly infinite number of ways its development can go wrong.

In the embryo, the heart begins as a slender tube with walls only a few cells thick. Around 10 days after conception, the tube kinks, folding onto itself and beginning the process of development into its final form and configuration. In about 99 out of 100 babies, the tube kinks to the right and develops normally. But for reasons that aren’t entirely clear, something else happens about 1 percent of the time. Each year, about 4,500 babies in the United States are diagnosed with serious congenital heart defects, according to the National Center for Health Statistics.

Pediatric cardiology at Hopkins is renowned. It first rose to glory almost 60 years ago with the success of the “blue baby” operation developed by cardiologist Helen Taussig and surgeon Alfred Blalock. The operation marked one of the great medical accomplishments of this century, extending the reach of cardiac surgeons everywhere and establishing Hopkins as the training ground for the nation’s top heart surgeons and pediatric cardiologists. Today, in addition to its reputation in research and training, the division ranks also as the leading treatment center for Marfan syndrome, an inheritable connective tissue disorder that can result in a dangerous weakening of the aorta by the teen years.

The 10 faculty physicians and two nurse specialists who make up this celebrated division are experts in caring for heart problems in children. More than 90 percent of the 2,000 or so outpatient visits they manage annually are for children with relatively minor congenital disorders—holes between two chambers of the heart, or valves that are badly formed—that can be treated with medication. The rest are more serious—either severe congenital malformations or dangerous problems, called acquired heart diseases, that developed during the first years of life from a metabolic disorder or a viral infection. (This, we learned later, was the category that Phil’s heart problem fell into.) Some cases involving seriously damaged valves also stem from rheumatic fever, a childhood condition that Jean S. Kan, M.D., chief of pediatric cardiology, notes “we thought for a long time was gone.”

Regardless of the cause or type of the disorder, the structure and function of the heart always lends itself to analysis, not unlike a straightforward engineering problem. “Everything about how the blood flows through the heart makes sense,” Kan says. “Everything can be figured out if you follow basic principles. There’s really no structural abnormality that doesn’t have some kind of cure. That’s what makes the field so rewarding: being able to figure out a problem and then having some way to solve it.” For about 150 children each year, that cure involves pediatric cardiac surgery.

As we learned more, Nancy and I came to understand that, in a strange way, we were lucky. We live in an era with effective treatments for serious heart disease—and we also happen to live close to an unusually skilled group of specialists in cardiac problems in children who do know how to figure out problems and solve them. The bedside monitor beeped rhythmically as Phil slept quietly in his bed, the first time in weeks that he rested. Medications dripped into his bloodstream through intravenous lines: The doctors had prescribed digoxin to strengthen the contraction of his heart, the diuretic Lasix to eliminate excess fluid from his circulation, and liquid potassium to prevent an imbalance of electrolytes. Our small son’s fingertip glowed red from the pulse oximetry electrode that measured the oxygen saturation of hemoglobin circulating in his blood. Our cardiologist stayed with us for three hours on the evening Phil was admitted to intensive care, answering our questions and even sitting silently while the enormity of our situation sank in.

Like a Weak Spot on a Tire

Phil has dilated cardiomyopathy, he told us. Like a weak spot on a tire, his heart had ballooned and weakened, so that it could not pump effectively. Normally, children’s hearts are about the size of their fist. Phil’s heart was the size of an adult’s heart; it occupied about 80 percent of the volume of his chest.

We plied the doctor with questions. The most nagging was what caused Phil’s cardiomyopathy. Usually, he told us, it’s viral infection, although no virus had been found when they had taken a biopsy of Phil’s heart tissue during cardiac catheterization. (One study suggests that it’s just the luck of the draw that determines whether the virus is present in the small snippet of tissue taken during biopsy.) In the final analysis, the cause of Phil’s illness may never be identified.

The database of children with cardiomyopathy, we learned, is so small that very little is known about the natural course of the disease. About one-third rebound, one-third do okay for a long time on medications, and one-third get worse and need a heart transplant or die. It was likely, we were told, that Phil would need a heart transplant.

But while it is tempting to think of heart disorders in clear-cut categories, in practice these conditions are as individual as people, with no two exactly alike. As Jean Kan puts it: “With children, each heart is shaped a little different, so no one heart problem is exactly like anything we’ve ever seen before.”

During the next two dismal weeks as Phil lay in intensive care, we heard from more friends than we thought we had, by phone, computer and fax. In the mail, we received sticks of incense and a piece of cloth dipped in holy oil, with instructions to apply it to Phil’s forehead. People suggested remedies ranging from faith healing to strange herbal concoctions. But Nancy and I had no doubt that if anything was going to help our small son, it would be science.

As we became fixtures in the pediatric division, we began meeting other children with severe heart disease whose families also had brought them to Hopkins hoping for a miracle. Austin Swanson, a wan and quiet child, with skin as pale and smooth as alabaster, was one. At age 3, he suffered from a different form of cardiomyopathy from Phil’s—called restrictive. His mother had been through hell. Austin had been sick almost constantly for the first years of his life. Finally, a chest X-ray had revealed a dramatically enlarged heart. Diagnosed at Georgetown University Medical Center, he had been referred to Hopkins and quickly pronounced a candidate for a heart transplant.

For nearly a year, as Austin’s heart deteriorated, his mother, Kelsey, a music teacher in the Montgomery County public school system, waited for a donor organ to become available for her son. Finally, late on the evening of July 4—Austin’s birthday—the healthy heart of a 3-year-old hit-and-run victim in Tennessee became Austin’s.

The transplant had been performed at Hopkins by Duke Cameron, M.D. “It was literally a new motor,” Kelsey says. By the next day, Austin had an appetite again and within a week, he was back home. He’ll remain on medication for the rest of his life, but he’s recovered well. Austin was Nancy’s and my introduction to the world of pediatric heart transplant.

To Transplant Or Not to Transplant

Duke Cameron is a compact, stocky man with a gentle disposition. As a pediatric heart surgeon at Hopkins, he is used to challenging cases that pose puzzling complexities. Many have been referred here by physicians from around the area, and indeed the nation, after other treatments have failed.

Almost three months after Phil was discharged from the intensive care unit and sent home on medication, Cameron met with Nancy and me in his office to give us The Talk. It was time, he said, to consider options—in particular, heart transplantation. Until then, this had been a distant thought, a word we could barely say out loud. Now it suddenly loomed as a real possibility.

What we learned from Cameron was sobering. While heart transplants in adults have become relatively common over the last 30 years, only about 2,000 had been done in children—about one-tenth the number in adults—and all of them in the last 10 years. Twenty of these have been at Hopkins.

The surgery itself is simple, Cameron explained. The difficult part is what happens afterward.

We already knew such surgery would require Phil to take immune-suppressing drugs for the rest of his life. What we hadn’t known was that a transplanted heart wouldn’t be a life-long proposition. While drugs reduce the body’s natural tendency to reject the donor heart, the response is not completely quelled and there is always a low-grade inflammation that eventually takes its toll on the health of the heart. Transplanted hearts in adult patients examined during post-mortem have been found to be terribly scarred. Nobody knows how long a transplanted heart will last in a child. It appears that 15 to 20 years may be the upper limit. The best guess, based on current science, is that children like Phillip might require two or three repeated transplants over the course of a lifetime.

Rather than salvation, a heart transplant seemed more like a temporary reprieve, a course that would necessitate risking additional surgeries down the road.

Waiting Is The Hardest Part

Phil’s cardiology team chose a conservative course, a full regimen of cardiac drug, diuretic and potassium. They would monitor his heart function and growth very closely, and look for clear signs of improvement. If none came while he was on this intense course of medication, he would be placed on “the list.”

Many other programs would have listed him right away, a member of the pediatric cardiology team recently admitted. “It’s an under-appreciated fact that kids who have uncomplicated transplant surgery —and this is about 90 percent—go on for years to lead completely normal lives.” The Hopkins team likes to consider all the ramifications, and one thing they knew was that graft coronary artery disease can develop at an accelerated rate after a transplant. Every year that a patient lives without a transplant is a year they live with a known, they say.

By the time Phil left the ICU, you’d never have guessed to look at him how sick he’d been. Except for a rather low energy level and an unusual sweatiness (a sign of cardiovascular insufficiency), he could have passed for any normal preschooler. That was illusory. The echocardiograms performed every month still showed a child with drastically diminished heart functioning almost a year later.

Just about this time, a friend forwarded to us a paper from Sweden published in the journal Circulation evaluating the effectiveness of the beta-blocker metoprolol—used widely to treat adults with high blood pressure—as a possible medication for dilated cardiomyopathy. The Swedish doctors had studied only six adult patients and no children, but the results suggested the drug could reverse cardiomyopathy and reduce the need for transplantation. Willing to grasp any straw, I called Hopkins to ask if they would be willing to try the medication on Phil.

The team knew about the metoprolol trial, but they also were aware of its caveats. The study had been done on a small sample, they pointed out, and hadn’t followed the patients for a long period of time. Nonetheless, our cardiologist recommended that a tiny dose of metoprolol be added to Phil’s regimen. In this way, our son became the first child in the United States to receive this medication for dilated cardiomyopathy.

Once more we waited. For nine agonizing months, Phil’s echocardiogram continued to show a severely weakened, under-performing heart. Then, just two months before the date set for his name to go on the transplant list, the echocardiographic findings began to nudge upward. On a July day in 1996, more than two years after his diagnosis, Phil returned to Hopkins for one more cardiac echo, and to our utter disbelief, the study revealed his heart had regained its normal size and function. Frank Vermeiren, the echo technician, was so overcome when he realized what had happened that he twice excused himself to leave the room. “We are so rarely able to give parents good news,” he told Nancy in amazement.

Healthy Questions

Phil is now 6 years old and just starting first grade. He’s developed a mischievous streak, relishing playing pranks and telling jokes. Like most boys his age, he thinks Batman is cool and the Spice Girls are not. But unlike most of the other kids in his class, he also knows how to use a blood pressure cuff.

Today, beta blockers like metoprolol are increasingly used treating kids with dilated cardiomyopathy at Hopkins. “It’s possible that’s what helped Phil get better,” says Philip J. Spevak, M.D., who is now our pediatric cardiologist. “The importance of beta blockers has grown in the last two years.” But the fact is, that the number of children with dilated cardiomyopathy is relatively small compared to the adult population, and there haven’t been any large clinical trials. One abstract on the effect of metroprolol in children with dilated cardiomyopathy, however, includes Phillip and 14 other children at Hopkins and two other medical centers.

Phil continues to grow stronger. He’s still on a medication regimen that includes larger amounts of metoprolol. The Hopkins pediatric cardiologists tell us it’s quite likely that he will develop normally and enjoy his allotted life expectancy, but nobody knows for sure how children with cardiomyopathy do 10 or 20 years after diagnosis.

On a recent summer evening, Kelsey and Austin Swanson visited our home. While grilling burgers and vegetables, I watched Austin and Phil run like maniacs on the playset in our yard, unaware of the small miracles they represent. Austin has grown tall and robust in the four years since his transplant. Kelsey says he sometimes shows other kids the scar running down his chest, which no doubt earns him a degree of respect. “I have more than a hundred action figures,” he announces after a trip down the slide. “That’s wonderful,” I reply.

The past is a question mark, and the future is shaded with the vaguest of uncertainties. But today is good—full of love and laughter—and for us and the Swansons, that’s enough. *