When Kids With Congenital Heart Defects Grow Up

When she was just one month old, Lindsey Guilmette’s lips started to look blue, and she was struggling to breathe. Doctors said it was the result of a low blood oxygen level related to a hole in her upper heart (known as an atrial septal defect), as well as a defect in the pulmonary valve. Now, nearly three decades later, after having (and recovering from) surgery to fix her pulmonary valve, Guilmette is one of an estimated 1.4 million adults living with congenital heart defects.

Some congenital heart defects were, at one time, a fatal childhood diagnosis, but better early treatments have transformed it into a condition that needs to be monitored and managed into adulthood. In fact, there are now more adults than there are children with this condition.

But even 10 years ago, these adults were finding themselves in a sort of no-man’s-land—too old to feel comfortable in a pediatric specialist’s office, but unable to find the right care from adult cardiologists, who are not as familiar with congenital heart disease and typically focus on acquired cardiovascular conditions, such as atherosclerosis (hardening of the coronary arteries).

Now, people with this type of condition can be seen at an adult congenital heart program with doctors who understand the developing heart and the ways a defect and its previous treatments can impact health through the lifespan.     

In her 30s, Lindsey Guilmette was happily married and working as a researcher in the health care industry, when she and her husband decided to take the next big step and have a baby. That’s when the Yale Medicine Adult Congenital Heart Program came into play.

Robert Elder, MD, director of the Adult Congenital Heart Program at the Yale New Haven Children's Hospital (YNHCH) Children’s Heart Program, says a life event such as having a baby can—and should—bring these patients to his office for careful planning and management.

Guilmette, who hadn’t seen a cardiologist in years, decided to see a heart specialist. “I was nervous,” says Guilmette. “There are unknowns that people who haven’t had these problems don’t have to think about. I was always wondering, ‘How is my body going to handle everything?’”

Doctors told her the pulmonary valve she’d had treated as an infant was severely leaking and needed to be replaced with an artificial one before she could safely handle a pregnancy. So, in 2017, she had a second heart surgery. She recovered in a matter of weeks, then started thinking again about pregnancy.

Guilmette’s doctors were encouraging. “This is very different than it used to be. It’s very rare that we would advise a woman with congenital heart disease not to at least try to get pregnant,” says John Fahey, MD, a specialist in the program, adding that with the proper support, most women with a congenital heart defect history are able to have a successful pregnancy. “But a congenital heart specialist will be aware of several issues,” he adds. “Having a baby puts a volume load on your heart because in the last trimester, the amount of blood that a mother's heart has to pump goes up by about 30%. Delivery is also stressful. To push a baby out, your blood flow has to go up more than 50%.” Women also need to check with their doctors about such medications as blood thinners, which can damage a fetus, he says.

Dr. Elder and a team that included maternal-fetal medicine specialists supported Guilmette throughout her pregnancy. She gave birth to a daughter, Riley, by Cesarean section, with cardiologists present in the operating room.

“I was just so relieved. It felt like a miracle,” says Guilmette. 

Doctors at the Yale Medicine Adult Congenital Heart Program currently care for about 500 patients who were treated for defects of varying complexities when they were babies or children—many transitioned into the adult program in their teens or 20s. 

There are hundreds of defects, ranging from minor to life-threatening, from holes in the heart to abnormalities of the heart’s rhythm. “In some cases, I take care of adults who were born with a heart problem, but they didn't realize it until later on,” says Dr. Elder. “Maybe they experienced subtle manifestations, and now they come to me in their 20s, 30s, or 40s and they're surprised to get the diagnosis. They say, ‘Wow, I was born with a heart problem that I didn't know about.’"

Dr. Elder also serves as a resource and partner for community physicians. “Most of these patients need doctors who know how to take care of them, who recognize that their heart defect is different than traditional adult-onset heart disease,” says Dr. Elder.

Care is already changing rapidly, and Guilmette’s story is one example of the progress. When her mother was pregnant, there was no way to predict that her baby would have a heart defect. More than 30 years later, maternal-fetal medicine specialists were able to perform fetal echocardiograms to check Riley’s heart. Guilmette learned that her daughter had a small ventricular septal defect (or hole) that eventually closed on its own without treatment, along with a mild pulmonary valve defect that was not causing any immediate issues. In fact, her pulmonary valve abnormality was the same type that had affected Guilmette as a child. “Congenital heart disease is often a family affair,” says Dr. Elder, who sometimes cares for families in which there may be other affected individuals.

Thankfully, Riley did not need surgery as an infant. She has seen Dr. Elder every few months since she was born and will see him every couple of years as she gets older, her mother says.

People with heart defects can now expect to live healthy lives for years to come. “My heart is strong,” Guilmette says, and that’s a good thing for the mother of an active toddler. “It’s now been a few years, and my daughter and I are both doing really well.”