by Erin Graham
Seventy years ago, babies born with complex congenital heart defects (CHD) faced a bleak future: About 80 percent didn't live to adulthood. This number started to plummet in 1938 when Children's Hospital Boston surgeon Robert Gross, MD, performed the first congenital heart surgery on a child. Now, for the first time, children with even severe forms of CHD are living long enough to enter middle age and the catch-22 of pediatric medicine: When doctors discover ways to make chronically ill children well enough to live into adulthood, those adults become subject to health problems that neither pediatric nor adult doctors have previously encountered.
This paradoxical "failure of success" has left the health care system with a dearth of doctors who can treat adult forms of what used to be strictly childhood diseases. The difference between CHD patients and those who battle diseases like Type 1 diabetes or cystic fibrosis as children is that the majority of people with CHD were deemed surgically cured after childhood operations. It's only recently that these adults—and their doctors—are realizing they were wrong.
In the late 1970s, pediatric cardiologists started to realize that while open-heart surgery had saved many children's lives, scarring from the surgical incisions set the stage for future heart problems. At the same time, doctors found that, many times, childhood heart surgeries were merely a temporary fix, and that most patients weren't returning for necessary follow-up procedures. Others survived without surgery, or without their heart defect even being discovered, only to have their hearts suddenly fail. It was clear that what adults with complex CHD really needed wasn't available: lifelong treatment of their chronic heart conditions.
Soon, a handful of major hospitals started to establish programs to prevent and treat complications of patients too old to be seen just by their pediatricians. The first program bringing together separate children's and adult specialists was the Boston Adult Congenital Heart service (BACH), a partnership between Children's, Brigham and Women's Hospital and, most recently, Beth Israel Deaconess Medical Center.
When the program's founders worked out the logistics, some of the most pre-eminent figures in cardiology got together in one room for the first time. The current head of Children's Cardiology Department, James Lock, MD, led the effort, gathering specialists trained in both adult and pediatric cardiology. He remembers, "The single most important part of the agreement was that BACH faculty got to decide which hospital is best to provide care for each patient. It's not decided by any hospital rules, but is strictly up to the physicians in the program."
Emile Bacha, MD, cardiovascular surgeon at Children's, says, "BACH surgeons liberally use each other's expertise. We have to cooperate because no one person has enough experience to help these patients."
Besides choosing the hospital that best suited a patient's needs, BACH also rewrote the rules on the emotional care of their patients, who were dealing with significant life issues. Adult CHD patients frequently need help with problems such as employment, restrictions in everyday activities, education, pregnancy and, often, depression. "You could say that each one of us is a psychiatrist as well as a caregiver," says BACH's current director, Michael Landzberg, MD. "The BACH team shares patients' whole lives with them and helps them face their fears.
"We agreed to make a lifetime commitment to them, knowing that if there were ever a time when a BACH patient is without insurance or just can't pay, he'd still get appropriate care," Landzberg says. "To this day, no one has ever been turned away."
Since about half of BACH patients (who number between 3,000 and 5,000 in any given year) are still followed by their pediatric caregiver, their relationships to their doctors can be life-long. "When I go to Children's, I always feel like I'm going to see my friends," says Donna Turransky, 49, who entered BACH as the program was just getting underway. "The BACH doctors are cut from a different cloth."
There's a monthly support group for adults with CHD, but it's often the BACH doctors who do the one-on-one counseling with the patients. "We discuss ways they can take adversity and turn it around, and we help them learn to say, 'What defines me is who I am in this world, not my heart problem and the ravage it's done on my body,'" says Landzberg.
When Donna came to BACH, she'd never had heart surgery, even though she was born with one of the most serious forms of CHD: transposition of the great arteries (TGA). For people with TGA, the arteries leading away from the heart are switched. In unaffected people, oxygen-poor "blue" blood is directed to the lungs to allow mixing and absorption of oxygen, whereas oxygen-filled "red" blood is delivered to the body, where it nourishes tissues. In people with TGA, red blood is delivered mostly to the lungs and blue blood is directed to the body, creating an imbalance that's typically fatal.
Doctors discovered Donna's congenital condition when she was 2, and told her parents she wouldn't live to be 5. When she reached age 11, the possibility of surgery came up, but it still had an extremely high mortality rate, so her parents decided to wait. By the time she entered BACH, in her late 30s, her condition was inoperable because the left side of her heart was so enlarged that repair would collapse her circulatory system.
Donna was dealing with her condition well until two years ago, when she abruptly started slowing down. She'd been working full-time, had gotten married a few years earlier and had an active lifestyle despite frequent episodes of tachycardia (extremely rapid heart rate) and cyanosis (turning blue from a lack of oxygen in her blood). But she suddenly lost all energy, was short of breath and had a hard time walking—all common occurrences among middle-aged adults with CHD.
This sudden—and rapid—decline in patients in their 30s or 40s is the product of decades of insufficient heart function. Since Donna's body had to compensate all those years, her organs aged prematurely, making her body act as if were 20 years older than it really was. Donna's scoliosis, migraines and pulmonary hypertension are directly related to her congenital condition. "This is the new challenge," says Landzberg. "We have to look at the rest of the body in terms of how it plays out with the heart."
Although Donna's defect was inoperable, her BACH doctors felt she might be a good candidate for a then-experimental drug called bosentan that could relax her tense blood vessels and help the blood flow better. But Donna was hesitant because she'd have to undergo a cardiac catheterization (the passing of a thin tube into an artery or vein up to her heart). "I didn't think I could go through another one of those," she says of the painful procedure. "I sat in the waiting room with my husband and was so afraid that I was sobbing. But then my husband said to me, 'You know these guys aren't going to let anything happen to you. They love you.' And I realized he was right. That's how this clinic works—every doctor makes you feel like that."
So far, the drug has been a good match for Donna. It has given her a rebirth of energy and vitality as she revisits a "pinker," more oxygen-rich world. "It's like a miracle," she says. "Not only am I walking, I'm even going away on vacation. And I'm pinky-red again."
Twenty years ago, the prevailing attitude toward children with severe CHD was one of overprotection. Doctors weren't sure what was going to happen to their patients and erred on the side of caution, and patients, feeling they were living on borrowed time, often didn't make plans for their futures. It's a mindset that's slow to change. "The old rule book is harming patients," Landzberg says. "They're not watching their weight or exercising—and, more importantly, not participating in the bread and butter of life."
During appointments, BACH doctors encourage patients to lead their lives to the fullest, even if they're just coming to terms with new disabilities and limitations. In Jim Langill's case, "encourage" isn't a strong enough word. Jim, 41, was seen by Children's cardiologists as a child and had heart surgery at age 12 to repair an atrioventricular canal defect, an abnormality in the central position of the heart where key valves and partitioning walls come together. He entered BACH in his late 20s, and despite "old baggage" from his past operation, including residual leaky heart valves needing further repair and constant blood tests to monitor his medication, Jim was an avid hiker who had climbed the Grand Tetons, and he wasn't about to give it up. But then he developed bacterial endocarditis, a life-threatening infection of the surface of the heart, and ignored it because he mistook it for the flu. The infection grew, causing him to suffer a stroke.
BACH's surgeons literally scooped out the infection and rebuilt Jim's heart, including the very walls and valves that had been repaired in the past. They nursed him back to health, but his determination to not let his condition dictate his life vanished. Doctors had issued him a physical therapy regimen, but he just didn't have the motivation.
"That's when the BACHers simply wouldn't take 'no' for an answer," Jim laughs. "Mike [Landzberg] was adamant about getting me back into the things I loved to do, and he forced me to do the physical therapy. He'd come in on weekends to see me and even sneak me donuts. It got to the point where he was coming in just to see me so much I had to tell him to go home and see his own family."
A BACH outpatient visit is about an hour, and clinicians spend most of that time educating the patient on his condition and impressing upon him the need to describe it accurately in case he needs to go to a hospital outside BACH.
For Jim, this insistence on education may have saved his life. When he was hospitalized after the stroke, the BACH doctors drilled him on everything there is to know about the bacterial endocarditis that caused it. So when Jim developed the same infection three years later, he was prepared. "I knew right away what it was and that I had to get on antibiotics immediately. If I hadn't, the infection could have gotten a much stronger hold," Jim says.
One would think that as surgical techniques become more advanced and less invasive, problems related to CHD will disappear. In fact, they're likely to get worse, for the following reasons:
Because doctors can keep even sicker babies alive, many of the babies will have even more complex issues as they age.
All surgery leaves behind known risks for future problems, no matter how minimally invasive it is. Children with CHD will never have a normal heart with normal pressures and anatomy.
Doctors will never know what patients' long-term outcomes are until each group of first-generation post-operative survivors complete their natural life span. For example, the existing operation used in the 1970s to treat D-transposition defects (in which the heart's chambers are misconnected) left patients with the heart's weaker ventricle pumping blood to the body. It turned out that some of them developed congestive heart failure decades later. Doctors then switched to a different operation, in which the arteries are reversed, but some of those patients are now developing other unforeseen problems, like pulmonary stenosis, valve problems and artery abnormalities.
But for every Jim, there are hundreds of adults with CHD who've either gone untreated or receive insufficient care at the community level. Bacha says, "We see a lot of patients who haven't seen a doctor in 20 years, and it's a real problem since there's a limited amount we can do at that point." This group is what's called the "lost population"—those who haven't been getting check-ups because they either weren't identified as having a serious heart condition or thought they were healed. "In this region, we capture about 25 percent of patients who should be seen," Landzberg says, "but that still means that three-quarters of the people we're meant to serve aren't being guided by us."
That's why BACH's educational efforts don't stop with their patients. Doctors got Jim and Donna involved with the American Heart Association (AHA) and Adult Congenital Heart Association (ACHA), a national, patient-run group that lobbies to improve the quality of life of adults with CHD through education, outreach and promotion of research. Donna, the ACHA Boston representative, traveled to Washington in February to lobby for government support of CHD with hundreds of others, including a host of BACH staff. Likewise, Jim works with AHA committees to promote the importance of regular gym classes and healthful foods in schools.
ACHA president and CHD survivor Amy Verstappen is appreciative of the partnership between her organization and the care providers at BACH. But she knows there's a lot of work to be done. "It's not uncommon for a person in her 40s to call me and burst into tears, saying, 'By the time I found out I should have had another operation it was too late.' The saddest thing about my job is when someone dies having only been treated at the community level—never reaching the care that's recommended. And when we die prematurely at non-specialized centers there may not be a lot of soul-searching that goes on. Some doctors just say, 'That 38-year-old was the oldest person I knew who lived with this or that. Look how lucky she was.'"
Adult CHD care is a rapidly growing field, but there's no way to fill the need: It's estimated that 20,000 people with CHD reach adulthood every year in the United States. That doesn't count the one million CHD survivors in the country, more than half of whom need ongoing, specialized care. Many don't know where to turn. BACH continues to make great strides toward filling this need—training young researchers, forming novel programs for transition of care from pediatric to adolescent and adult caregivers, helping clinic directors develop data-sharing programs, contributing to national care guidelines and serving as a national model of care, but it faces some major obstacles.
"There are enormous challenges," says Lock. "Many insurers will not cover a person with a preexisting condition, and all of our patients have preexisting conditions." This means that BACH has the potential to lose lots of money in its attempt to provide optimal care. Second, the training program is very long. Doctors wishing to join the BACH team must spend three years doing internal medicine or pediatrics (or four years in a combined program), four more doing an adult or pediatric cardiology fellowship and then two more in subspecialty training regarding care of adult congenital heart survivors. That's at least nine years of training after medical school.
Despite all of this, the effort to educate patients, their families and care providers is making headway. "I've been to every ER on the East Coast and you can see the evolution," Donna says. "I've always told ER doctors that I have an unrepaired congenital heart condition. Ten years ago, they'd panic because they didn't know what that meant. Now, they know what I'm talking about."
Another sure sign of progress is that new centers of excellence, rich in clinical and research skills, are forming at hospitals around the country. "Despite the fact that there are currently premature deaths and disability resulting from a nonfunctional health care system, we're all incredibly hopeful," says Verstappen. "BACH is an outstanding example of what can happen throughout the country."
Certainly, BACH patients count themselves lucky. "When I come to the center for a check-up and see a scared young kid there with his parents, I try not to eavesdrop," says Jim. "But then sometimes I have to go up to the child and say, 'I grew up having what you have—and I'm doing fine. You don't have to worry, you're right where you want to be.'"
To learn more about supporting the BACH program at
Children's Hospital Boston,
Donna Richardson in the Children's Hospital Trust
617-355-2061 or firstname.lastname@example.org