Published: Jan. 30, 2008
Updated: Apr. 27, 2010
Every year in the United States some 40,000 babies are born with congenital heart defects. Today, advances in care are helping patients of any age to not just survive -- but thrive.
By Angela Spivey
For years, Deloris Gibson had felt tired -- exhausted, really. Her doctors thought it might be allergies. Then, several years ago, when Gibson was 64, her problem worsened. “To get the dishes done, I’d do one pan and stop for an hour and rest, then do another one,” she says.
She went to a pulmonary specialist, and bought a home oxygen saturation monitor. She found that her oxygen level was at times dropping to a dangerously low 70 percent (a level greater than or equal to 90-94 percent is considered normal). She had a diagnostic catheterization, but it revealed nothing definitive. Her doctors put her on home oxygen.
In 2006, Gibson was at her sister’s house, making the Thanksgiving dressing, when she felt especially tired. “I measured my oxygen, and it was 68,” she says. She slept through Thanksgiving and two days beyond, waking only to eat. Her family wanted to hospitalize her, but she waited until she returned home to North Carolina and went back to a pulmonary specialist, then to a cardiologist, and had another diagnostic catheterization.
Gibson’s cardiologist referred her to Duke because he suspected her problem was caused by a heart defect called a patent foramen ovale (PFO). “The best way to think about it is as a trap door in the wall in the heart,” says John F. Rhodes Jr., MD, chief of clinical cardiology in Duke’s Department of Pediatrics. The opening should close sometime after birth, but in 25 to 30 percent of people it remains open.
PFOs often go unrepaired because they are considered normal. “Unfortunately, in some people, PFOs can become pathologic,” Rhodes says. “In people with hypoxemia [low levels of oxygen in the blood] we think the hole opens up, and all the blue blood goes across, causing the pink blood to be unoxygenated.”
For Gibson, Rhodes performed a catheterization to close the PFO with a Dacron-and-metal patch about the size of a quarter. Today, for the first time in years, she doesn’t depend on supplemental oxygen.
“Dr. Rhodes thought I might be on oxygen part-time, but I don’t need it,” she says. In addition, she’s been able to have knee surgery that her doctors previously considered too dangerous because of her low oxygen levels.
Gibson gets tears in her eyes when she talks about all the things she can do now -- paint her kitchen, mow her one-and-a-half-acre lawn with a riding mower, and travel. “I thank the doctors and everyone at Duke with all my heart -- including the patch over it,” she says.
Fortunately, most patients with congenital heart defects don’t have to wait as long as Gibson did to reap the rewards of detection and treatment. In fact, the average age at which treatment begins has steadily dropped over the years -- and many heart abnormalities are now being identified before babies are even born.
Even better news for the estimated 40,000 infants born with heart defects each year in the United States is that improved diagnostic and repair techniques have enabled defects previously associated with high mortality to be successfully treated. From 1993 to 2003, death rates for congenital cardiovascular defects declined 31 percent, according to the American Heart Association.
“A number of heart defects that were previously considered fatal can now be treated surgically with good results,” says James Jaggers, MD, associate professor of surgery. For example, for children with single ventricle defects, in which one of the heart’s pumping chambers is underdeveloped, the survival rate 10 to 15 years ago was less than 50 percent. Today, the survival rate has risen to 85 to 90 percent.
Now that mere survival isn’t a luxury, many patients grow up with their cardiac team. Today, care focuses on helping patients of any age to thrive. At Duke, patients benefit from physicians’ experience in the most complex cases, access to a steady stream of new treatments and devices available only through clinical trials, and a team that follows a patient for as long as it takes -- often into adulthood.
At Duke, physicians use ultrasound routinely to detect birth defects before babies are born. “If defects are identified early, then the baby’s delivery can be coordinated at a tertiary care center, where ICUs and neonatal and cardiology support are available,” says Jennifer Li, MD, chief of cardiovascular research in the Department of Pediatrics and an associate professor of pediatrics. “It’s also easier on the family because they learn earlier what is going on with their child and can have a consultation to find out if there are other abnormalities.”
Angelo Milazzo, MD, of Duke Children’s Cardiology of Raleigh, uses telemedicine to provide answers for expectant mothers and other patients as soon as possible. While an ultrasound or echocardiogram is performed in the Raleigh office, colleagues at Duke can see the images in real time and discuss them with Milazzo and the sonographer. Milazzo also uses telemedicine to consult live with doctors whose patients are having these tests performed at outlying community hospitals.
“Fetal ultrasounds are very complicated, technically difficult studies to do because you’re at the mercy of the position of the baby and several other factors,” Milazzo says. This is especially true when a baby is suspected to have a complex condition such as hypoplastic left heart syndrome, which represents a spectrum of different but related kinds of heart disease. “No two of these patients are alike, and it can be very difficult prenatally to determine exactly what variant the baby may have,” Milazzo says.
“We’re a full-service pediatric cardiology office, and we’re able to do the test and give the results that day. But if we have a very complicated case or a clinical question that we feel needs multiple opinions, by using telemedicine, we can do that at the time of the visit. We don’t have to say, ‘I want to discuss this with my colleagues, so I’ll bring you back in a month.’ That’s very helpful because these women are often scared to begin with because they’ve been told there may be something wrong with their baby’s heart. It’s important to give them information because they may have to make difficult decisions,” Milazzo says.
After a defect is detected, often it is repaired through either cardiac catheterization or surgery. Duke has become a leader in both methods. Duke’s pediatric interventional catheterization lab is the busiest in North Carolina, performing 600 procedures in 2006. The pediatric surgical program has the highest volumes in the state, performing 380 surgeries in 2006.
And though Duke often handles complex cases, outcomes are superb. Out of dozens of U.S. programs involved in the Society of Thoracic Surgeons congenital heart national surgical database, Duke has one of the most complex patient populations but still has one of the lowest mortality rates, Rhodes says: “Our outcomes are as good as anywhere.” Adds Jaggers, “We specialize in taking care of the most complicated cases with excellent results that rival anyone in the country.”
One factor in that success is the ability to perform more complete repairs when patients are babies. “We do a significant number of operations on premature infants -- children as small as three-and-a-half pounds with very complex heart defects,” Jaggers says. In the past, doctors would perform smaller, temporary repairs early in life, then bring the patient back later for a bigger surgery. “Now, we tend to do a definitive repair at an earlier age,” Jaggers says.
In addition, Rhodes and Jaggers point to improved management in both the operating and recovery rooms. Developing best practices that are uniformly used has meant that patients spend less time on the breathing machine and suffer fewer side effects from surgery, such as strokes or neurological injury. “We’re interested in not only getting kids through surgery, but getting them through functional and whole,” Jaggers says.
Jon Meliones, MD, director of the pediatric ICU at Duke, has led these efforts, including a formalized procedure for transferring patients from the operating room to the ICU. First the surgeon conveys the results of the procedure, then the anesthesiologist gives a report, then the nurse repeats the information back, and the ICU physician clarifies with questions.
“Before, people would begin talking without having a plan of what they were going to say,” Meliones says. “Now, the team comes in, and we do the handoff using very scripted, stylized communication, and it happens the same way every single time.” The procedure is modeled on those used in the aviation industry to reduce crashes.
Duke has won several awards for quality for this procedure, including a scientific award from the Society for Critical Care Medicine. Articles on these procedures have been accepted for publication by the Agency for Healthcare Research and Quality.
Though repair of defects is the mainstay of treatment, care does not end there. Duke’s team of nurses, genetic counselors, doctors, and others work to treat the whole patient. “We’re looking more comprehensively at patients and thinking about the genetic causes of their heart disease, their neurodevelopmental outcomes, and how we can help maximize their developmental potential,” says Stephanie Wechsler, MD, who runs Duke’s specialized cardiovascular genetics clinic. “We are moving well beyond just survival to look at what we need to do to help these kids have as full a life as possible.”
Wechsler sees patients with congenital heart disease that accompanies other birth defects, patients with cardiomyopathies that may have a genetic basis, and patients who may have a connective tissue disorder such as Marfan syndrome. Children with congenital heart disease as well as other congenital anomalies can often benefit from finding out if they have a named genetic syndrome or chromosomal abnormality.
“That can be helpful both for planning care for the child and for letting the family and pediatrician know about other health problems that might come up in the future,” Wechsler says. In addition, Wechsler and clinic coordinator Elizabeth Heise, a certified genetic counselor, counsel families about the possibility that current or subsequent siblings may also have congenital heart disease.
Additional support comes from nurses, social workers, and even parents of other patients. Robin Wilson, a pediatric cardiology nurse at Duke, helped start a Triangle-area chapter of Mended Little Hearts, a support program for families of children with congenital heart disease. At weekly meetings held at Duke, parents receive support from each other as well as information from a guest, such as a dentist who provided heart-healthy dental care tips.
As treatment has improved, more and more patients with congenital heart disease are growing into adulthood. Ronald J. Kanter, MD, who specializes in treating heart rhythm problems, has followed some patients for as long as 20 years. For one patient, who first came to Duke when he was 15, Kanter has implanted three pacemakers over 15 years. “He’s now married and has a kid,” Kanter says.
For such patients, Duke offers one of the nation’s few specialty clinics providing comprehensive treatment for adult congenital heart disease. The clinic includes pediatric cardiologists such as Kanter and Rhodes, adult cardiologists, cardiovascular surgeons, and other specialists in adult congenital heart disease. Patients include a few who, like Gibson, have heart defects that were not repaired in early life.
But many have had complex defects repaired during childhood and still need ongoing care. Such patients may have recurring or new problems that can require additional surgeries or procedures to repair valves, blood vessels, or holes in the heart using new non-surgical techniques in the cardiac catheterization laboratory.
They can also develop heart rhythm problems related to scars from prior surgeries, which may also be treated with catheter-based procedures, Kanter says. And, adds cardiologist Thomas Bashore, MD, “As patients get older, they may develop heart problems that affect everyone, such as hypertension, coronary artery disease, or diabetes. These issues can further complicate their overall care.”
The clinic offers services such as genetic counseling, referrals for vocational counseling, management of issues that might arise during pregnancy, clearance to participate in sports, and comprehensive imaging techniques, such as echocardiography, cardiac CT, and cardiac MRI, to diagnose and follow these patients. Specialized services also include the newest treatments for pulmonary hypertension offered in collaboration with Duke pulmonologists.
Kanter remembers having to tell a high-school senior that he had to stop playing on his school’s basketball team. “When I met with him, I realized he had a valve disease that made it unsafe for him to continue to compete at high-level sports until we dealt with it either with a catheter-based procedure or surgery,” Kanter says.
But the teenager desperately wanted to play in his homecoming game. Kanter, despite his reservations, trekked down to the gym with a portable defibrillator to supervise while the teen played in one last game. “I felt we could take whatever minimal risk there was, and let him play, and I could be there in case he had a life-threatening heart rhythm episode,” Kanter says. Fortunately, Kanter didn’t need to use the defibrillator -- and the boy’s team won.
“I realized that like many things, in medicine there is opportunity for compromise,” Kanter says. “We have to take into account more about the patient than just their physical problem; we have to take into account their developmental level and emotional status as well.”
For more information on congenital heart disease treatment at Duke, call 919-681-2916 (general information) or 919-668-4000 (appointments and referrals). For more information about the Cardiovascular Genetics Clinic, call 919-668-2196.
This article was first published in the Winter 2008 edition of DukeMed Magazine.