One morning a few months ago, Dr. Dan Murphy was awakened at 3 a.m. with news of a tragic case.
The patient, a 38-year-old man, had been operated on twice during childhood for a heart defect—once to get him stable and then again to fix the defect. Once he reached adolescence, however, he was lost to follow-up.
In the intervening years, he had developed a leaky valve, and his heart had gotten bigger and bigger. “His heart muscle had been damaged by being allowed to have that extra load all these years,” Dr. Murphy said. “He is probably going to either get a heart transplant or die.”
The real tragedy of the case, Dr. Murphy said, was that “I think a lot of the problem could have been prevented if he had been seen earlier.” It's these kinds of cases that Dr. Murphy has in mind as he works to expand Stanford (Calif.) University's Adult Congenital Heart Clinic.
Because of the success of pediatric cardiac care, many patients who would have died from their heart defects are now living well into adulthood. Long-term studies of these patients have shown that they often have few problems for the next 10 or 15 years. However, “We've found that longer term, we start to see things develop,” said Dr. Murphy, director of the clinic.
Part of that is simply a result of changes associated with aging, he continued. “We get older and middle age has its effects on all of us, including people with heart defects. We see rhythm changes, we see cardiac muscle failure in some populations, and we see changes in valves that were functioning before that begin to deteriorate.”
Some of these patients continue to see their pediatric cardiologists until they are well into their 30s, while others see general cardiologists, Dr. Murphy said. But some patients with milder defects may not end up seeing anyone at all.
The ideal background for physicians taking care of these patients is “they need to be trained in pediatric cardiology as well as adult medicine and adult cardiology,” said Dr. Mary Mullen, staff cardiologist at Boston Children's Hospital as well as at the Boston Adult Congenital Heart Service. “Backgrounds tend to vary. I personally trained in medicine and pediatrics.”
To start figuring out a road map for the specialty, the American College of Cardiology sponsored a conference in Bethesda, Md., in October 2000, which resulted in an article addressing coordination of care, educational requirements, access to care, and special needs of adult congenital heart disease patients (J. Am. Coll. Cardiol. 2001;37:1161–98; www.acc.org
The case of Amy Verstappen, a patient with congenitally corrected transposition of the great arteries, is a perfect example of why treating physicians need sophisticated backgrounds. “Two years after the birth of my daughter, I started having some fatigue and was misdiagnosed as having dilated cardiomyopathy,” said Ms. Verstappen, who is president of the Adult Congenital Heart Association, a patient organization. “I kept saying I had this defect and they kept saying, 'It doesn't matter; your only option is a transplant.'”
The irony of that diagnosis, she continued, “was that I had a normal heart size—no one had done a chest x-ray. And the echocardiogram was getting really bad ejection fraction numbers, which were inaccurate.”
Once she got to a specialist, Ms. Verstappen found out that she never had dilated cardiomyopathy and that she could have tricuspid valve replacement instead of a transplant. “I had the valve replacement and I've been stable since.”
Several of the physicians Ms. Verstappen saw remarked that she had a “funny” mitral valve. But that was because they were actually looking at the tricuspid valve, she noted. Reflecting on the treatment she got before she saw a specialist in this area, Ms. Verstappen said, “I'm not mad at [the doctors who misdiagnosed me], but I think people can do a better job of getting a referral when somebody with a complex disease comes along.”
Dr. Murphy agreed. “It's a continuing education problem,” he said. “The patients have a right to see a specialist who stays up to date and who's well trained and experienced. A specialized center like this, and the cardiologists who work in it, serve as education resources not just for the patient, but also for the primary care physician and for the local cardiologist, especially in the case of patients who come a long way. They can see their regular cardiologist for most things, and get a reassessment from us” when needed.