If you are an adult with congenital heart disease—a problem with the heart’s structure or function that is present at birth—your chances for an active, healthy life are better than ever. Much of the credit goes to dramatic improvements in the care of childhood congenital heart disease that has helped people live well into adulthood.

But while childhood surgeries and other treatments are making a significant difference, they don’t cure adult congenital heart disease. Even when adult survivors have been treated and feel healthy, new issues can surface, so it’s important to continue care throughout life.

“Adult congenital care is certainly a growing part of the cardiology landscape today,” says Robert Elder, MD, director of Yale Medicine’s Adult Congenital Heart Disease Program. One of his goals is to help patients make a smooth transition from pediatric to adult care. Those who don’t receive ongoing, uninterrupted care for this type of heart condition are at increased risk for developing a complication and needing an urgent intervention, such as heart catheterization or surgery.

“When we are monitoring a patient regularly and are aware of symptoms as early as possible, we often can address problems before they even start or at least limit complications,” Dr. Elder says.

Congenital heart defects (as a whole) represent the most common type of birth defect. The term covers a large variety of abnormalities that develop before a baby is born, and may be diagnosed before birth, after birth, or sometimes even late in adulthood. These are defects that can change the normal flow of blood through the heart, and/or affect how a heart will develop and function throughout a person’s life.

A heart defect may be simple, such as a valve that is malformed. But it may also be complex, as in a heart that is unbalanced (with one side larger than the other) or has a hole in it, allowing the mixing of blood. People can have a minor defect that never causes a symptom, or one that is life-threatening and requires major surgical intervention. Around 25 percent of all individuals born with congenital heart defects will require surgery in the first year of life.

A few decades ago, the prognosis for children with complex congenital heart disease was not good. The increased prevalence of adult survivors today, especially those with complex congenial defects, is promising. In fact, there are now 1.4 million adults—far more adults than children—with congenital heart disease.

Lifelong specialized monitoring and care is critical to the health of anyone with congenital heart disease. While every situation is different, a congenital heart specialist can tell you how often you should schedule routine checkups in adulthood. He or she can discuss the situations and symptoms you will want to watch for.

Below are commonly encountered problems in patients with adult congenital heart disease:

• Complications associated with early surgical repair
• New defects that were not diagnosed and treated in childhood 
• Exercise and training issues
• Pregnancy issues
• Heart rhythm problems (some patients may have such devices as pacemakers and defibrillators)
• Heart failure
• Arrhythmias (abnormal heart rhythm)
• Shortness of breath
• Cyanosis (bluish tint to the lips, nails, and skin that can result from insufficient oxygen)
• Heart murmur
• Fatigue
• Edema (swelling of body organs or tissue)

Patients will want to talk to a congenital heart specialist about lifestyle adjustments that can prevent problems they are at higher risk for, such as heart attack, stroke, and type 2 diabetes.

Congenital heart disease also can affect pregnancy. While women may be able to have a successful pregnancy if their problem was mild, those who had complicated defects may not be able to bear children. Either way, they should talk to a specialist to make sure they understand any issues that may threaten their safety.

Couples should also talk to a genetics counselor about any possible genetic risks for their baby, since both men and women are at risk for passing congenital heart disease along to their children. It’s also important to talk to all of your doctors and your pharmacist about your condition.

Adult congenital heart disease may be a critical factor in choosing birth control, and it may impact the choice of medications you take for other common conditions.

Some adults with congenital heart disease may not get the regular monitoring that they need. Some have an especially difficult time with the transition from pediatric to adult care, when they are too old to continue seeing their pediatric cardiologist but find that most adult cardiologists aren’t trained to care for them. They may end up seeking care again when they develop an issue such as a heart rhythm problem or a pregnancy that has been complicated by their congenital heart status.

Adult congenital heart disease programs bring together the skills of adult specialists who are trained in congenital heart disease, as well as other caregivers who are aware of the long-term complications that can develop, and the possibility that further surgery or interventional procedures will be needed. “It’s a team approach, and I really think it takes a village to take care of these patients,” Dr. Elder says.

One recommendation is for pediatric cardiologists to start preparing congenital heart patients for the transition into adult care as early as age 12. “We should really be talking about this transition from day one,” Dr. Elder says. “They should know that they will always need lifelong care.”

It’s important to provide a history to all of your doctors—including your primary care doctor and doctors you are seeing for any reason in the emergency room. If you experience heart symptoms, talk to a congenital heart specialist.

Congenital heart specialists can diagnose any new or unresolved issues. In addition to performing a physical examination and discussing your medical history, your doctor may want to use a variety of tests and imaging tools to learn more about your condition. These routinely include chest X-rays, an echocardiogram (ultrasound), or an electrocardiogram, which can identify heart rhythm issues. Occasionally, more involved tests such as magnetic resonance imaging (MRI) or cardiac catheterization are needed.

Once a diagnosis is made, adult congenital heart specialists are highly skilled at treating problems. Their recommendations may range from watchful waiting to medication, to procedures or surgeries to fix the complication or problems. 

The Yale Medicine Adult Congenital Heart Disease Program was the first integrated program in Connecticut dedicated to caring for adult patients with the disease. Our specialists work closely with our patients’ general practitioners, private cardiologists, and other specialists, and foster cooperation between adult and pediatric cardiologists as necessary.

Yale Medicine specialists provide the full spectrum of inpatient and outpatient services, including imaging, exercise testing, and surgical and minimally invasive catheterization therapies. Our expert care team collaborates with specialists in cardiac imaging, cardiac transplantation, and cardiothoracic surgery. It also includes subspecialists in such areas as genetics counseling, contraceptive counseling, psychology, high-risk obstetrics, and kidney disease.

We have several unique, highly specialized programs. The Yale Collaborative Fontan Clinic provides comprehensive, multidisciplinary evaluation for single ventricle adults with a Fontan procedure. It offers a close collaboration with nationally recognized fetal echocardiography and a high-risk obstetrics program. 

We also have an adult congenital heart disease electrophysiology program for patients who need complex ablations, pacing/ICD needs, and complex lead extractions. The program’s full spectrum of care includes state-of-the-art cardiac catheter interventions for transcatheter valve therapy, and ongoing clinical trials to bring other minimally invasive options to patients.

“The complex patients clearly do much better if they are dealt with by a team of people who treat these issues all the time—even more so here, where we have the resources of a children’s hospital that sits in the context of the Yale New Haven Health System,” Dr. Elder says. “Caring for people with congenital heart disease is a team sport, and you want all the right people involved.”