Years Later, Adults See Problems from Congenital Heart Defects

One in every 100 children born has some form of heart defect, making it the most common of all birth defects. Fifty years ago, only about 1 in 5 survived to adulthood. Today, thanks to advances in pediatric heart surgery and medical care in the past half-century, 9 in 10 survive well into adulthood. That's more than 1 million American adults living with congenital heart problems - about 15,000 in Wisconsin - and the numbers nationally are growing by an estimated 20,000 to 30,000 a year.

Many of these adults with congenital heart defects (ACHD) underwent surgery as infants and have no additional problems - or believe they don't. But 20, 30, or 40 years later, they could be at risk.

The problem is, few are aware of their risk, including some primary-care physicians, says Michael G. Earing, MD, an Assistant Professor of Medicine/Pediatrics at the Medical College of Wisconsin. His practice focuses on ACHD patients, and he's one of fewer than 50 US physicians currently trained in this sub-specialty.

Need for Treatment Might Appear in Adulthood
"It's hard to predict who will require intervention later," says Dr. Earing, who is on staff at both Froedtert Hospital and at the Herma Heart Center at Children's Hospital of Wisconsin. "Although not all require additional treatment, it's important to note that very few cardiac lesions are fixed completely in infants." In addition, about 20% of these adults never had surgery and may be unaware they were born with a heart defect. "We know that the longer they live, the more likely they may have a problem."

Two years ago, Dr. Earing came to the Herma Heart Center at Children's Hospital of Wisconsin to open a clinic for treating ACHD patients. It is one of only 30 such clinics in the country and the only one in Wisconsin. Today, Dr. Earing follows 1,500 ACHD patients, primarily from Wisconsin, but also including referrals from northern Illinois and upper Michigan.

The clinic provides comprehensive diagnosis of ACHD patients using X-rays, echocardiograms, and MRI scans. Treatments include interventions such as cardiac catheterization and surgery. Already, the clinic is recognized nationally for its high survival rate.

Types of Defects
Dr. Earing's patients have a variety of conditions. Among the most common are atrial septal defects (ASD), pulmonary valve stenosis, tetralogy of Fallot (so-called "blue baby syndrome"), and bicuspid aortic valve defects, although "there are more than 30 types of congenital heart defects, and multiple variations of each," he says. "Some have rhythm problems. Some even have only one pumping chamber (single ventricle). Some problems are minor, and some are major. It's hard to generalize."

The chief reason so many patients with congenital heart defects have survived into adulthood, Dr. Earing notes, goes back to the invention of the pulmonary bypass machine, which made open-heart surgery possible and allowed the development of innovative surgical techniques to treat congenital heart disease. Dr. Earing notes that the first cardiac surgeries using the heart-lung bypass machine (1953-1955) were actually performed on children with congenital heart disease, not adults with coronary heart disease. "This invention ushered in the new era of cardiovascular surgery," he says.

People who had one or more surgeries in infancy or childhood often believed they had been cured. "However, with longer follow-up," Dr. Earing says, "we now know many of these patients are at risk for problems during adulthood. As a result, these patients do need regular follow-up. This allows prevention and, at a minimum, gives us the ability to identify problems early." As with many other medical conditions, if problems are identified and treated early, outcomes are greatly improved.

Establishing a Registry
Because so many ACHD patients might not be aware that they should be evaluated for problems, Dr. Earing and some of his colleagues in the field are working with the National Institutes of Health to establish a registry to help locate them and encourage them to see a specialist to rule in or rule out problems. "It's become a huge issue," he says.

To further 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.

In addition, Dr. Earing's clinic is one of 10 ACHD centers involved in a multidisciplinary project to not only care for these patients but to collect their experiences and form a knowledge base. "We're learning so much from our patients, and the hope is to develop protocols to make it better for the next generation," he says. "I believe this type of research is our duty and one of our major goals. We're committed to both educate our patients and learn from them."

Dr. Earing lectures frequently around the community to raise awareness among physicians and their patients about ACHD. "One major issue for women is the risk of pregnancy in the setting of congenital heart disease. For some, pregnancy and delivery won't be a problem; there are very few contraindications to pregnancy. However, there could be problems for those with residual defects. It's important for all of them to get counseling before they become pregnant and know if they have any risks."

For ACHD patients, the consequences of not following up could put some at risk for such serious problems as heart failure, inability to exercise, or arrhythmias, Dr. Earing says. Some with residual problems might require an interventional procedure, additional surgery, or even a heart transplant.

Until the clinic opened at Children's Hospital of Wisconsin, many adults with congenital heart disease had to leave the state for care. Now, comprehensive ACHD care is close to home.

Barbara Abel
HealthLink Contributing Writer

"Reflections" is a collection of essays by the health professionals of the Medical College of Wisconsin.