Until Jennifer Cortes joined a patient advocacy group of adults who have congenital heart defects, she'd never met anyone outside her family who was living with such a complex, life-changing condition. Because she hears that sentiment so often in her volunteer work with the group, she has a ready answer.
"I tell them they're not alone. Congenital heart defect is the most common birth defect," said Cortes, who co-chairs the patient and family advisory board of the Adult Congenital Heart Association. "I would encourage them to find the support and resources they need."
To further that goal, Cortes has also joined a registry of patients created to bolster research on improving the lives of adults who were the beneficiaries of advances in surgical, therapeutic, and interventional techniques when they were children. Finding appropriate care as adults is another hill they have to climb.
Described in an October report in JAMA Network Open, the Congenital Heart Initiative seeks to serve patients whose unique cardiac anatomy and the repairs they required as children call for unique considerations as adults, said study author Anitha John, director of the Washington Adult Congenital Heart Program at Children's National Hospital.
"They are part of a group of patients that hadn't really existed before. There's really not a longitudinal registry that follows patients, and that was one of the challenges with being able to do long-term follow-up research," John told STAT. "There are plenty of registries within the congenital heart space now that collect information on patients who have surgeries and have had procedures. But being able to follow those patients throughout their lifetime and definitely the ability to be able to gather patient-reported outcomes was something that was lacking."
Congenital heart defects are defined as structural abnormalities in the heart or nearby blood vessels that develop before birth. Worldwide, that amounts to 9 out of every 1,000 live births, a rate that translates in the United States to about 2.4 million people living with the condition. About a quarter of them need surgery or a catheter-based treatment during infancy, after which more than 90% -- in developed countries -- survive into adulthood. Progress has been decades in the making, from a coin flip in the 1980s to 85% for the most complex congenital defects to 99% for the least complex ones today.
That's where new challenges begin. As people in this cohort grow older, they may leave the care of pediatric cardiologists only to find doctors whose training may not have included care of adult survivors like them.
"Many students in medical school don't come away with an understanding that these patients are surviving and that there is this relatively new field of adult congenital heart disease that's trying to tackle this exponentially growing population with multiple health care needs that we've probably only scratched the surface of," said Jordan Awerbach, a pediatric cardiologist and director of the Stephen C. Grout Congenital Heart Disease Program at Phoenix Children's. "Many of our patients still struggle to transition smoothly from pediatric to adult care. We still remain underserved in terms of the sheer number of people who can deliver care or specialized care."
There is some progress, said Christopher Learn, a cardiologist and director of the Adult Congenital Heart Program at Mass General.
"A lot of the medical education has been on managing these conditions in the newborn or childhood period prior to getting a surgery or more complete repair," he said. "But the understanding of the potential late complications is one that's been gradually evolving."
Congenital heart surgery began in earnest in the 1940s, so patients who had the earliest surgeries are now reaching their 70s and 80s, raising questions about how these conditions can affect people at an age they might not have expected to see.
Children who used to die in infancy or childhood now survive and even thrive into adulthood, John said, but they are more likely than other adults to experience heart rhythm disorders, heart failure, and neurocognitive problems. That makes the case more compelling for research to guide care tailored to their needs.
Some people assume their gradually growing fatigue or weakness are just signs of getting older. "We try to make sure that we follow people appropriately and have the right kind of surveillance in place so that we don't miss late complications," Learn said. "And if we encounter them, that we're following them appropriately and where necessary recommending repeat surgery or catheter interventions."
Many adults with congenital heart defects grew up not knowing neurocognitive problems were more common, John said. "There are many folks who just thought, 'I didn't read very well.' 'I just wasn't good at math' or 'I was a little slow.'"
A scientific statement from the American Heart Association earlier this year called for more research on preventing and managing neurodevelopmental conditions in this group.
"Nowadays the pediatric surgeons and care teams are very aggressive about doing early screening and early intervention for all sorts of potential neurocognitive issues," Learn said. "But there's definitely older patients that probably got through some of these issues without much early intervention and so sometimes we're picking things up on the later end of the life spectrum."
Heart problems that emerge later in life vary in complexity with the heart defect the patients survived. And these patients are just as prone as anyone else in the population to other health care issues, including obesity.
Among the Congenital Heart Initiative's 4,558 participants, most (88%) had at least one health condition in adulthood. Heart rhythm disorders were the most common heart-related problem and mood disorders were the most common non-cardiac condition. Almost half (45%) of the women had become pregnant and more than one-third (38%) had given birth. Overall quality of life was rated high by 85% of people enrolled in the registry.
"Patient-level registry data like this allows us to evaluate whether the care that we're providing to our patients is genuinely enhancing their quality of life," Awerbach said.
Other research, in the Journal of the American Heart Association, has shown that rates of hospital admissions for heart failure -- a common development in these adults -- have been climbing, more than doubling from 6.6 % in 2010 to 14% in 2020. That rise may parallel a paradox in the larger population, in which people are simply surviving long enough after heart attacks or other crises to develop weakened hearts that no longer pump blood as well.
Learn thinks the overall story is an optimistic one. Continuous care should mean recognizing problems early enough to help avoid some issues later in life, he said.
Cortes, who in addition to her patient advocacy works as a project manager for Together for Medicaid at Community Catalyst in Slidell, La., has lived through sporadic care. She was born in 1986 with a ventricular septal defect and mitral valve stenosis, conditions discovered only after birth, when a heart murmur was detected. Born at 4 pounds, 14 ounces, she had open heart surgery at 16 months to repair the ventricular septal defect, a hole in the wall between the heart's two lower chambers. She was later diagnosed with pulmonary stenosis, a narrowing of the valve between the heart and the lungs.
Through college and grad school, she did not seek cardiology care after aging out of the pediatric specialty. Ten years ago she finally found an adult congenital heart disease clinic. That's when she heard advice that was new to her, from limiting coffee and alcohol to considering family planning -- something she'd never considered possible before.
"It was a very different experience," she said. "Growing up, from what I remember, they checked on my heart condition but that was the extent of our visit. I don't recall there being any conversations about transitioning to an adult provider, or any type of talk about family planning."
The advice was to plan on having only one child at a time because two fetuses would require a reduction during pregnancy, Cortes recalled, "which might be jarring for some to hear, but I never knew that was an option."
Learn said the risk of pregnancy was so overestimated in the past that many patients underwent sterilization procedures. While pregnancy can add a layer of complexity to congenital heart defect care, most women do well. "But how to follow them and make sure that we're keeping them safe and getting the right kinds and amount of surveillance is still an evolving field," she said.
In the years after Cortes was asked about having a family, she fell out of care again, as she puts it, because the specialty care that adult survivors need is expensive. Her job at the time offered health insurance coverage, but her deductibles meant she had to pay for expensive tests out-of-pocket.
Now she knows what she wants from a doctor: someone who will answer her questions and someone who is involved in research to learn more. She found her way to the Adult Congenital Heart Association from the specialist she saw in 2014, joining the patient advisory board in its inaugural year in 2021 so she could share the resources she valued with other patients.
Cortes said her own participation in the Congenital Heart Initiative is related to her hopes that her doctor is involved in research.
"I'm kind of a big nerd, I'll be honest," she said. "I know research leading to advances in treatment is the reason I'm alive today. I mean, somebody had to invent that surgery."