Understanding Adult Congenital Heart Disease

Did you know that babies can be born with a portion of the heart not correctly formed, incomplete or missing? 

While ACHD stands for adult congenital heart disease, the problem is actually present at birth. There is often no clear explanation for what causes a congenital heart defect. However, genetic factors and environmental elements may play a role. Some patients with ACHD were diagnosed as newborns (or, increasingly, even before birth) while others were not diagnosed with a heart defect until later in life.

Congenital heart disease develops while the heart is forming in the fetus. Many defects are minor and may even go away during childhood. Other more serious defects may require open-heart surgery in infancy or later in life. Because of the fantastic advances in heart surgery, the vast majority of children born with congenital heart disease are surviving into adulthood. Today, there are more adults with congenital heart disease than children. These adults need to continue care with a cardiologist specialized in ACHD to ensure they are doing well.

Congenital heart defects affect about 1% of the population. Approximately 40,000 children are born each year with a heart condition that falls within this classification. Below are some common questions that adult patients and parents of children with congenital heart defects often have.

I am an adult that had a heart defect at birth. I haven't had any problems with my heart in a long time, and I am seeing an adult cardiologist. Is there another type of doctor who specializes in my condition that I should see?

As you enter adulthood, it can be somewhat confusing to navigate what type of cardiologist to visit. You may find yourself running into roadblocks if you don't see the right one. The problems that may develop in ACHD patients are often quite different than those typically cared for by a general adult cardiologist. 

The American College of Cardiology and the American Heart Association have developed guidelines for managing adult patients with congenital heart disease, and the American Board of Internal Medicine now has a board certification for doctors who specialize in caring for ACHD patients. All ACHD patients, even those with minor defects, should be evaluated at least once by one of these doctors. 

Patients with more complex ACHD should be followed in ACHD specialized centers on a regular basis. The Adult Congenital Heart Association has helpful resources for patients including a listing of specialty centers by state, as well as a clinic directory.

My child was born with a congenital heart defect and is now 18 years old. Will our pediatric cardiologist continue to treat them, or should I find a doctor specializing in adults?

Current guidelines recommend transitioning patients with congenital heart disease from pediatric care to specialized ACHD care as they become adults. Many common concerns dealt with by ACHD specialists, such as pregnancy and employment issues, are not easily addressed by pediatric providers. 

Although transitioning away from pediatric cardiologists can be difficult, it represents a true success: the growth of the child into adulthood. It is extremely important for the patient to become knowledgeable about their heart disease, and the transition process is a great opportunity to empower young adults to take ownership of their care.

My child was born with a congenital heart defect. They had the surgeries to correct it and have been OK with no problems. Should I continue to follow up with a cardiologist?

Absolutely, you should continue to follow up with a cardiologist! Patients with adult congenital heart defects shouldn't wait until they experience symptoms before seeing a doctor. You want to prevent the development of these symptoms by having scheduled follow-ups. There is excellent data proving that adults with congenital heart disease who do not follow up regularly are more likely to develop problems related to their heart disease.

Can I really get a new diagnosis of congenital heart disease as an adult?

While most patients are diagnosed during childhood, about 10% of adults with congenital heart disease are first diagnosed as adults. While this can be a frightening diagnosis, remember there are available resources, programs and specialists to help you and your family manage this disease.

Editor's note: This article was originally published on Oct. 6, 2014.