As many as 1 million American adults, treated for congenital heart defects as children, are at risk of serious illness as they move into middle and old age, doctors say, yet many of these patients are not even getting regular heart check-ups. A portion may even be at risk of sudden death.
In years past, doctors pronounced many of these patients ''cured" after surgery in their childhood. Yet, cardiologists recently have learned that the old fixes can fail over time, or result in dangerous enlargement of the heart, irregular heart beats, and sudden death. The problem is particularly insidious because the symptoms may be subtle or mistaken for typical heart problems that develop in adulthood and that are treated differently.
''By the time the patients are symptomatic, the success of their care is partly jeopardized," said Dr. Michael Landzberg, director of the Boston Adult Congenital Heart service at Children's Hospital in Boston and Brigham & Women's Hospital. ''The cost to the patient is huge. The cost to society is huge."
Now, Landzberg and cardiologists across the country are pressing for a national outreach campaign to locate adults with congenital heart defects and encourage them to seek check-ups from specialists. The National Institutes of Health is considering their request for a national patient registry and is expected to issue a report this fall on improving care for these patients.
The problems are getting attention now because of the increasing number of people born with heart defects who are surviving into adulthood. About 1 in 150 babies is born with these defects; a half-century ago, most died early. But with new pediatric surgical techniques perfected over the last 50 years, about 90 percent live to be adults. Dr. Gail Pearson, who oversees community research on congenital heart disease for the National Heart, Lung and Blood Institute, estimated that the number of adults living with congenital heart problems is growing by 20,000 to 30,000 a year.
''We're beginning to see the tip of this wave now," said Dr. Pedro del Nido, a pediatric cardiologist at Children's Hospital Boston. ''I suspect that in 10 years, we'll be spending most of our time managing these patients."
To help address the problem, the American College of Cardiologists and the American Heart Association are developing new guidelines for treating adult congenital heart patients, including recommendations for specialized training for doctors. Boston has one of a handful of centers nationally that specialize in treating these patients. But many pediatric cardiologists who saw these patients as children work in hospitals unsuited to treating adults, while many adult cardiologists lack experience in handling congenital defects, specialists say.
Studies have estimated that only 10 to 50 percent of adults with congenital heart defects get any regular heart care.
''Outreach is needed because some of them are either simply lost to follow-up, in denial, or were told they didn't need to be followed," said Pearson, who oversees a task force of doctors examining the problem.
June Sheldon is one of the ''miracle babies" who grew into middle age unconcerned about her heart. Sheldon was born with tetralogy of Fallot, a common cluster of four heart defects known as ''blue baby" syndrome because the child's skin often looks blue from lack of oxygen in the blood. She underwent what was then pioneering surgery at 19 months and again at age 17 by preeminent surgeons in Maryland and Houston.
''I was told, 'You're fixed. You had final corrective surgery. Go lead your life,' " said Sheldon, who is now 56.
Spurred by new energy from her repaired heart, Sheldon did. She married, worked full time in clerical jobs and eventually moved to Temple, N.H. Because of restrictions in her childhood, she never became very athletic, preferring walking for exercise and more sedentary pursuits. Occasionally, she'd feel tired or lacking in energy, but she attributed that to middle-age weight gain or the stresses of job and family.
''I didn't have problems," she said. ''That's why I never even gave it a thought that maybe I should have a cardiologist to follow up with every year or two or five."
Then last November, her mother died after a long bout with Alzheimer's. It was an anxious time, and Sheldon's family physician sent her for a heart stress test. It picked up some extra heartbeats, and the doctor suggested she consult a cardiologist.
But Sheldon didn't have a cardiologist, and when she located one at Catholic Medical Center in Manchester, N.H., he wasn't familiar with adults with tetralogy of Fallot. He sent her to the Boston Adult Congenital Heart service, where doctors found she had a leaky valve, which was weakening her heart.
Untreated, the problem could have led to heart failure, according to Landzberg. But Sheldon's problem was caught in time. Since undergoing surgery in May, she has new energy, and friends say her complexion is clearly pinker.
''The good news is that people can live a long time" with congenital defects, said Amy Verstappen, president of the Adult Congenital Heart Association, an advocacy group. ''But your heart can change anatomically over time. Heart changes can be subtle, not painful. By the time you feel crummy enough to think something's wrong, your heart could be damaged."
Recent studies suggest that the risk increases dramatically starting about 20 years after corrective surgery. Some fixes were not designed to last decades, while others cause compensatory changes in the heart that create new problems over time, doctors said.
A study based on patients in Oregon found the risk of sudden death was low overall -- about 1 percent -- but was 25 to 100 times greater than in people without congenital defects. The risk of sudden death -- from arrhythmia (irregular heart rhythm), embolism (blood clot), rupture of an aneurysm (a rupture of a weak spot in an artery), or heart failure -- appears greatest in patients who had tetralogy of Fallot, aortic stenosis (narrowing of the aorta, which delivers oxygen-rich blood to the body), coarctation (pinched-off area of the aorta), and transposition of the great arteries (the aorta and pulmonary artery are reversed, so the aorta carries oxygen-poor blood to the body).
There are no data about what happens when patients with congenital defects begin to have age-related cardiovascular disease, said Pearson, which may create another constellation of problems.
The bottom line for adults with congenital heart disease, said Verstappen, is that ''none of us have normal hearts. All of us need to be watched."