For the first time in her 24 years, Brooke Stone is able to run.
She was born with a congenital heart defect that, after surgery in her first weeks of life, was repaired well enough to keep her alive. But it meant she couldn't do anything that might make her heart work too hard. She was told not to play baseball or soccer, join her gym class or even walk too far.
Her heart started to fail anyway. The repair that had once saved her life wouldn't be able to keep her adult-size heart beating for a lifetime. So last fall, she had a second surgery.
And now, finally, she's realizing what it means to be normal.
"I'm really excited to be able to just run. But on the other hand, I'm like, 'Oh man, what have I gotten myself into?' " Stone said, laughing. "Since I've never done any cardio in my life, my lungs are like, 'Huh? You really want me to do this?'
"Basically, I'm just trying to get a normal life, figure out normal stuff like everyone does," she said. "It's just happened a little later for me."
Stone, an Aptos resident who underwent her first surgery as an infant at UCSF and her second surgery at Stanford, is part of a rapidly expanding population of patients who were born with heart defects and later face new challenges as adults with their weakened hearts.
By definition, congenital heart defects are problems that exist at birth, so they are mostly associated with infants and small children. But with the advent of technology and growing surgical expertise, babies with congenital heart defects who once would have died very young are being treated quickly and aggressively.
They survive childhood, yet they often enter adulthood with fragile hearts that have received only temporary repairs. They outgrow the artificial valve that was implanted when they were a toddler, for example, or they discover that a part of their heart that has been working too hard for too long suddenly can't keep up anymore.
There are now enough of these patients that entire programs devoted to adult congenital heart disease have popped up. Last year, the American Board of Medical Specialties agreed to make adult congenital heart disease a new subspecialty requiring official certification.
"We've gotten better and better at repairing very complicated heart defects, but those repairs are not true cures," said Dr. Frank Hanley, a cardiothoracic surgeon at Lucile Packard Children's Hospital at Stanford, who treated Stone.
"They make the children able to be alive and grow into adulthood, and many of them can lead fairly normal lives, but they need further procedures," he said.
There are dozens of types of congenital heart defects. When all types are included, these defects affect roughly 1 percent of the U.S. population. Most defects are not genetic, but some are, and children born to a parent with a congenital defect have a slightly higher risk -- about 5 percent -- of being born with a heart problem.
The first surgeries to repair congenital heart defects were done in the 1950s, primarily on children well out of infancy and with relatively simple defects. As surgeons grew more confident and the technology more powerful, children with more complex heart problems began undergoing surgery, often within a few weeks or even days of birth.
In the early years of these surgeries, the goal was simply to help these children survive, and not much thought was given to what would happen to them as they grew up. But as the surgeries became more common, and more children made it to adulthood, cardiologists saw that they were suffering early onset of heart disease and heart failure.
"We spent so much time and energy and money on these kids, and we put these children through so many surgeries just to keep them alive," said Dr. Alison Meadows, director of the adult congenital heart disease program for Northern California Kaiser and a spokeswoman for the American Heart Association.
"It felt like we were doing this fabulous thing, but when they turned 18 we were just forgetting about them," Meadows said. "But that's changing."
Now doctors understand that patients born with heart defects need to be followed closely their whole lives, even years or decades after their initial surgical treatment. Most adult congenital heart patients will get annual echocardiograms, or sonograms of their heart, to look for problems like weakening ventricles before they cause symptoms.
But word has been somewhat slow to spread among patients and even doctors, and in the current patchwork system of U.S. health care, many pediatric patients get lost when they enter adulthood, said Dr. Elyse Foster, director of the UCSF adult echocardiography laboratory.
"There needs to be smooth transitional programs when they move from pediatric cardiologists to cardiologists who are trained in adult congenital disease," Foster said.
Peter Barnett of Mill Valley was born with a condition called tetralogy of Fallot, the most common congenital heart defect, which causes blood with low levels of oxygen to flow out of the heart and into the body, instead of into the lungs. At age 5, Barnett underwent surgery to patch a hole between ventricles in his heart and repair a valve in the pulmonary artery that delivers blood to the lungs.
The surgery was immediately successful, and he remembers being a healthy, active child -- skiing with his family, playing baseball and riding bikes with his friends, traveling widely as an adult. Then at 37, he suddenly experienced a very rapid heartbeat that sent him to the emergency room. He learned that the repair was failing and that he had what doctors now call a leaky valve.
"To correct this mechanical problem in my heart when I was 51/2, they had to crank the pulmonary valve open," Barnett said. "They knew it would leak, but what they didn't know was the effects after 30 years of use."
The congenital defect that never bothered Barnett as a child has slowed him down considerably as an adult. Doctors at UCSF inserted an artificial valve in his chest, along with a defibrillator that will shock him if his heart rate spikes. At 54, he remains active, but these days when he bikes up Mount Tamalpais, "the joggers pass me," he said with a laugh.
"I was told after the first surgery that it's been fixed. So you think you're fine," Barnett said. "Then suddenly it went into serious failure. It was like my body had let me down."
It's a common reaction among congenital heart patients, doctors say. Many of them say they believed their early surgery had cured them, but they likely will require regular heart check-ups for the rest of their lives, and may need further surgeries when they're older.
Adult cardiologists must keep up with the newest procedures for treating congenital heart defects, knowing that they'll be looking at the long-term effects of those operations. Surgeries that were standard just two or three decades ago may no longer be done -- but adult cardiologists must recognize them anyway, and know how to treat the problems that arise from those surgeries.
"It's almost like an archaeological find," said Dr. Hon Lee, chief of cardiothoracic surgery at Santa Clara Kaiser Medical Center. "Sometimes I get in there and go, 'What was this surgeon thinking?' But then you realize this was decades ago -- the materials changed, the procedure changed. The type of prosthesis they used, the suture line, everything from the very first incision gives a history."
In Brooke Stone's case, the surgery she had at 4 weeks old already was falling out of fashion by the time she had the operation in 1988. Stone was born with transposition of the great arteries, a complex and life-threatening condition in which the two main blood vessels of the heart pump blood into the wrong chambers.
For the past 20 years, surgeons have treated this condition by moving the two blood vessels to their normal positions on the heart. But that surgery, while simple in theory, involves complicated, fragile work that wasn't possible in the earliest days of infant surgery.
Instead, Stone had a procedure called an atrial switch, in which surgeons left the blood vessels in their wrong spots and rerouted the blood flow. The result is that the right ventricle, which ordinarily pumps blood to the lungs, instead pumps blood at a much higher pressure into the body.
The problem is that from birth, the right ventricle is naturally smaller and weaker than the left. So after 20 or 30 years, the muscle in the ventricle weakens and begins to fail. Many patients like Stone end up eventually needing heart transplants.
But Stone's surgeon -- Stanford's Hanley, who also happened to be present at her first surgery as an infant -- has refined a technique that is, essentially, the same procedure now commonly done on infants. He moves the blood vessels back to where they belong.
In cases like Stone's, Hanley said, the key is to keep people alive. "We continue to march forward with developments," he said. "If we can keep them healthy, without irreversible damage, there's going to be something new for them in a decade or two or three. Maybe it will allow them to be cured."
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c.2013 San Francisco Chronicle