Heart transplants for people with muscular dystrophy were unheard of just a few years ago, but today they're saving lives.

"Diseases desperate grown By desperate appliance are relieved, Or not at all." - William Shakespeare, Hamlet, Act IV, Scene 3

Jason Vogel, 21, is majoring in history at Creighton University in Omaha, Neb., and plans to study in Spain this winter. Greg Stephenson, 25, lives in Las Vegas with his wife, Karen. He's putting to use his recent degree in environmental studies with a new job at the University of Nevada's Environmental Health and Safety Department.

There's nothing unusual in these stories, except that both men have Becker muscular dystrophy and had such severe cardiac muscle involvement -- cardiomyopathy -- that they would not have survived without heart transplants.

Vogel had two transplants, the first in 1994 and the second last year. Stephenson had a transplant in February.

Both realize that they're pioneers, because, until recently, muscular dystrophy of any kind generally excluded patients from being transplant candidates.

MORE COMMON NOW

Dr. Peter Donofrio directs the MDA clinic at Bowman Gray School of Medicine -- North Carolina Baptist Hospital in Winston-Salem, N.C. He remembers a 17-year-old patient with severe cardiomyopathy whom he saw in the late 1980s. The teenager appeared to have Becker muscular dystrophy, but genetic testing wasn't yet available, so diagnoses and prognoses were uncertain.

Donofrio thought the boy should have a heart transplant, arguing that his skeletal muscle involvement was minor and that his long- term prognosis, with a transplant, was favorable.

But some doctors had misgivings. Should a patient with a chronic disease be given a heart that could go to a person without such a diagnosis? Would the genetic abnormality find its way into the newly transplanted heart and ultimately destroy it? (This doesn't seem to happen.)

Donofrio and his colleagues in cardiology and surgery wrote an article about the patient, who unfortunately died of cancer several years after his transplant. (The cancer, lymphoma, is known to be associated with the kind of prolonged immunosuppression necessary after organ transplants. The risk of developing this kind of problem doesn't seem to be any different for people with or without muscular dystrophy.)

The article, published in 1989, before the patient's death, ends on a note of cautious optimism that reflects its time in history: "In general," it says, "cardiac transplantation is not advisable in patients with muscular dystrophy and cardiomyopathy because of the poor long-term prognosis of the muscle disorder. Nevertheless, in ambulatory patients with slowly progressive disease, transplantation may play a role in management."

MORE COMMON NOW

Today, improvements in heart transplantation itself and in immunosuppression to keep the body from rejecting the new organ, along with vastly improved ability to predict the course of many forms of muscular dystrophy through genetic and biochemical testing, have given this lifesaving procedure a wider role.

At St. Louis Children's Hospital in Missouri, a major center for heart transplants, three out of 16 patients who had this procedure in the first half of this year had Becker muscular dystrophy.

Dr. Charles Canter is the medical director of the hospital's cardiac transplantation service. "Our policy here has been to look not so much at muscular dystrophy as one entity, but to know that there are multiple entities within it and try and take it from there," Canter says.

"Heart muscle disease, cardiomyopathy, is very often associated with skeletal muscle disease, like Becker and Duchenne. Our feeling is that, if the natural history of the skeletal myopathy is that it's very slowly progressive and the patient can look forward to decades of life, and the cardiomyopathy becomes more severe than the skeletal myopathy, then they shouldn't be excluded from candidacy for a heart transplant," Canter explains.

"I don't think any of my colleagues in the world of pediatric heart transplantation would look upon muscular dystrophy as an absolute contraindication. They don't look at the diagnosis as much as they look at [the patient's] functional capacity."

Canter says his center generally doesn't do heart transplants in people with Duchenne. "In somebody with Duchenne," he says, "by the time a patient has a cardiomyopathy, generally they're wheelchair-bound and you know that within a few years they're going to have problems maintaining their respiration. So that's the main reason we don't feel they're a transplant candidate."

MOST PATIENTS HAVE BECKER

People with various kinds of muscular dystrophy often have some cardiac problems, but most transplants in such patients -- they total fewer than a dozen -- have been done in patients with Becker. At least one transplant has been done in a patient who may have had Emery-Dreifuss dystrophy.

There are probably several reasons for the skewed statistics. One factor is the type of heart problem that occurs in each disease. People with Emery-Dreifuss or myotonic muscular dystrophy (MMD) often have serious heart problems, but they usually aren't heart muscle problems (cardiomyopathies). it's usually (but not always) the heart's electrical system that's involved, and that can be better treated with medications or a pacemaker.

Serious heart problems are rare in limb-girdle and facioscapulohumeral dystrophies. And Duchenne usually carries a poor respiratory and overall prognosis.

The patient with severe cardiomyopathy, little or no involvement of other muscles or other organs, good respiratory function and good general health is the best candidate for a heart transplant -- and that often describes a patient with Becker.

ANYTHING BUT ROUTINE

The increasing acceptance of heart transplantation for patients in general, and for Becker patients in particular, should not lead anyone to think such procedures are easy, routine or entirely safe. Doctors and patients agree that they're desperate measures done to save lives. But, with the possible exception of difficulties with exercise during the rehabilitation period, complications don't seem to be any worse for people with muscular dystrophy than for other heart transplant patients.

"I wish that transplantation had evolved to the point where we could consider it a cure," Canter says. "I think when you transplant somebody, you trade a fatal disease for a chronic disease. There are definite complications from transplantation medicines. There is no perfect immunosuppressant. There are problems with hearts, and they need to be followed closely and evaluated indefinitely. So I would definitely not term transplantation a cure.

"In many ways, it's like being a diabetic," Canter continues. "On the outside, you look healthy, but you have a chronic disease for which you have to take medicine every day. And there's a high prevalence of long-term complications that can lead to illness down the road."

Donofrio's original patient succumbed to one of those long-term complications, and both Vogel and Stephenson had major, life- threatening complications directly associated with their transplants.

Vogel was doing well after his first transplant, when he checked into the hospital for a thorough one-year checkup. The routine at the medical center at the University of Nebraska in Omaha included an angiogram, a test in which a cardiac catheter, a tiny tube, is passed into the small coronary arteries to evaluate their status. As the catheter went into one of Vogel's arteries, the innermost lining of the artery tore, and blood started flowing into the space between the torn layer and the intact layers next to it. Soon, the artery was blocked off, just as it would be in a heart attack. Vogel was rushed to surgery, where a bypass operation was done. He survived -- barely -- but the heart was so badly damaged he had to have another transplant.

Stephenson is still suffering from the residual effects of a stroke he apparently had during his cardiac transplant surgery. The stroke was probably caused by a blood clot that formed while he was on a ventricular assist device -- an artificial heart -- while waiting for a suitable donor heart to arrive.

For weeks after surgery, Stephenson was barely able to speak or understand words, and it took months for him to recover. Even now, he says, he still mixes up his pronouns sometimes, saying "he" instead of "she" or the other way around. The artificial heart also caused serious damage to his kidneys, but that was successfully treated with medication.

After his surgery, Stephenson contracted cytomegalovirus, an infection known to occur in patients taking immunosuppressive drugs. He needed prolonged intravenous therapy for this condition.

Both young men lost muscle strength during the inactivity associated with the surgery, but they say they're doing whatever they can to work back to their previous level of functioning.

LIFE IN THE HOSPITAL

"It's a miserable life, being in the hospital," says Paula Thomas, nurse coordinator for the transplantation unit at St. Louis Children's. Patients waiting for transplants are critically ill, often vomiting constantly (the precise reason isn't clear), unable to eat very much because of exhaustion and nausea, hooked up to IVs that deliver multiple medications to support their dwindling cardiac function, and sometimes connected by surgically implanted tubes to an artificial heart, a pump at bedside.

Besides the strain of waiting for a donor heart, which may come when you least expect it -- or worse, not at all -- there's the lack of privacy and the boredom. Vogel recalls his preoperative stay in the intensive care unit at St. Louis Children's.

"There were no rooms, just one big, open area. Then, of course, there's all the beeping. it's loud and there are people running around, no privacy. It got really old. I remember saying once to my mom that I wanted to go home. I was 18. I kept getting worse and worse, it seemed like. I wanted to die at home, not in that hospital." Stephenson recalls that his waiting period was disturbing, as well as stressful.

"It's kind of frightening when you think about it," he says of his stay at University Medical Center in Tucson, Ariz. "I was in the hospital on the artificial heart, waiting for a heart to come in. You think about it -- you're waiting for somebody to die so you can live. The physical aspect of organ transplant and everything, that's frightening. But thinking about the idea itself, someone dying, that's difficult to deal with."

At St. Louis Children's, patients and their families are given pre-transplant psychological tests to try to identify potential problems in coping with the procedure and its aftermath. "Not everyone has a together personality or a together family," Thomas says.

She emphasizes that the risks of the procedure itself are by no means trivial. "The mortality rate is certainly not zero," Thomas says. Despite the best precautions in the St. Louis protocol, like not keeping the donor heart in a cooler for more than four hours, sometimes the heart just won't start when it's put into the recipient's body.

Bleeding and clotting are ever-present potential complications during and right after the surgery. At the time Thomas was interviewed, a 17-year-old with Becker had just died, probably because of postoperative bleeding.

At St. Louis Children's, as at most other centers, the immediate post-transplant period entails another hospital stay of a week or so, with the first few days in the intensive care unit, hooked up to a ventilator, tubes, drains and other paraphernalia.

After that week, most patients are discharged, but out-of-towners usually rent an apartment near the transplant center for the months-long surveillance and rehabilitation process.

REHAB AND WATCHING

In the months following the transplant, patients are watched very closely for changes in heart function, drug side effects and signs of infection, a common problem with immunosuppressive drug therapy. The St. Louis program uses three medications -- prednisone, azathioprine and cyclosporine -- to prevent rejection of the new heart. (Other centers may vary slightly in their choice of drugs.)

The program requires frequent heart biopsies to check for signs of rejection. "There are programs that don't do the biopsies, that just follow with echocardiograms [a non-invasive procedure to look at the heart], but the biopsies are definitive," Thomas says.

"So it's busy at first. Very busy. We do them weekly for a month and then every other week for two months, and then monthly for three months, and then every three months. Then, at their year anniversary, they get a heart catheterization [going into the heart with a catheter]. So it's a busy time. It's hard work. And they're doing physical therapy and getting lab work as an outpatient."

If all goes well, medications (especially prednisone, which has many side effects) are gradually reduced, under close monitoring.

Patients do physical therapy to gradually regain strength and allow their new hearts to work normally. Muscular dystrophy can complicate this part of the process, but exercise programs can be modified. Vogel did aquatic therapy at a local pool after both of his transplants and says it helped him regain at least some of his strength.

A common long-term problem is blockage of the coronary arteries, possibly because of transplant-related inflammation. Doctors differ as to whether the usual "healthy heart" diet -- low-fat, low-cholesterol, low-salt -- does any good in preventing this kind of serious problem. "We advocate quality of life," Thomas says of her center, which doesn't impose severe dietary restrictions on its patients.

Vogel says he's on a healthy heart diet, which he had a hard time getting used to. "I was only 18. I never heard of low-fat. That was the biggest life change for me."

COSTS AND COVERAGE

Stephenson says his bills came to about $250,000. All but $30,000 -- the cost of the artificial heart machine -- was covered by his medical insurance. His muscular dystrophy and the associated cardiomyopathy were a pre-existing condition, he explains, but pre-existing conditions were covered after the first year. He'd had his insurance, through his wife's job, for more than a year before the transplant.

"Insurance is a wonderful thing to have," he says. "Even if it costs you a lot to keep the insurance, it's worth it."

Maggie Wolan, a spokeswoman for CIGNA, which operates health maintenance organizations (HMO's) and other plans, says her company treats everything on a case-by-case basis. "We do whatever is medically necessary. Contrary to popular belief, these decisions are not made in isolation in a mahogany office somewhere."

Decisions by insurance companies and other third-party payers, such as Medicaid, aren't always consistent, but, as heart transplants become more accepted and uses for them broaden, coverage is also likely to be more commonplace. It's probably not realistic to expect any insurance to cover everything associated with the transplant.

NO REGRETS

Recent statistics from Stanford (Calif.) University's transplant center show 82 percent of patients survive a year past their heart transplants; 61 percent are alive five years later; and 41 percent survive 10 years. Vogel was told he had six months to a year to live, without a transplant.

Neither Vogel nor Stephenson enjoyed their transplant experiences, but neither wanted to seriously consider the alternative. "My decision was that, if I didn't do it, I was going to die," Vogel says. Given the odds, he says, making that decision "wasn't that big a deal."

He says he's learned a few things along the way. One is that doctors don't know everything. The first cardiologist he visited in Omaha didn't offer a heart transplant as an option because of his muscular dystrophy. It took a library search by Vogel's mother, a nurse, to show doctors that heart transplants had been done in people with Becker.

The second is that patients do have a say in what they will and won't do. Vogel stands firm on the issue of the angiogram -- the test that tore his coronary artery.

"I won't have one," he says. "I don't care what they say. I've learned that you're in more control than you think you are. I'm not going to do it, and they're going to have to live with that."

Stephenson says he feels "very fortunate and very thankful and glad that the heart transplant has worked out. If I have to take these medicines every day for the rest of my life, that's fine. I'm more than willing to do it."

He also says the transplant has changed his outlook about his general condition. "Now I'm back to dealing with the muscular dystrophy he says.

"But I look at that a little bit differently now. Before, I was really scared about the muscular dystrophy. Then I went through everything with the transplant, which was a very frightening thing, and now the muscular dystrophy doesn't scare me as much. I'm not nearly in as good shape as a person who doesn't have muscular dystrophy, but I'm still here."

He says he'd be happy to talk to anyone considering a transplant. Despite the serious complications he had, he remains upbeat.

"I look at it this way. There's two choices. Either you have a transplant or you don't survive. That's pretty much it. To me, death isn't an option."

FURTHER READING

Organ Transplants: A Patient's Guide by the Massachusetts General Hospital Organ Transplant Team and H.F. Pizer, Harvard University Press, 1991. Good general guide to organ transplants. May be out of date on some details.