Until Jennifer Cortes joined a patient advocacy group of adults with congenital heart defects, she had never met anyone outside of her family living with such a complex, life-altering condition. Because he hears this sentiment so often in his volunteer work with the group, he has a ready answer.

“I tell them they are not alone. Cortes, who co-chairs the Adult Congenital Heart Association’s patient and family advisory board, said congenital heart defects are the most common birth defect. “I encourage them to find the support and resources they need.”

To achieve this goal, Cortes also joined a patient registry created to support research to improve the lives of adults who benefited from advances in surgery, treatment, and interventional techniques as children. Finding appropriate care as adults is just another hill they have to climb.

explained in a way October report in JAMA Network OpenThe Congenital Heart Initiative aims to serve patients whose unique heart anatomy and the repairs they needed as children require unique evaluations as adults, said study author Anitha John, director of the Adult Congenital Heart Program at National Children’s Hospital Washington.

“They are part of a patient group that didn’t really exist before. There’s no longitudinal registry that really follows patients, and that was one of the challenges of being able to do long-term follow-up research,” John told STAT. “In the congenital heart field, there are now a large number of registries that collect information on patients who have surgery and who have undergone surgery. “But being able to follow these patients throughout their lives and collect patient-reported outcomes was something that was clearly missing.”

Congenital heart defects are defined as structural abnormalities that develop in the heart or nearby blood vessels before birth. Worldwide, this corresponds to 9 out of every 1,000 live births; This means that approximately 2.4 million people in the United States are living with this disease. About a quarter of them require surgery or catheter-based treatment in infancy; after which, in developed countries, more than 90% survive to adulthood. Progress has been continuing for decades, from 85% for the most complex congenital defects at the flip of a coin in the 1980s to 99% for the least complex today.

This is where new challenges begin. As people in this group get older, they may abandon the care of pediatric cardiologists and find doctors whose training does not include the care of adult survivors like themselves.

“Many students in medical school do not understand that these patients are survivors and that adult congenital heart disease, a relatively new field, is trying to tackle this population that is growing exponentially and likely has multiple health care needs. Stephen C., a pediatric cardiologist and fellow at Phoenix Children’s Hospital “This has only scratched the surface,” said Jordan Awerbach, director of the Grout Congenital Heart Disease Program. “Many of our patients still struggle to transition seamlessly from pediatric to adult care. “We are still underserved in terms of the number of people who can provide care or specialized care.”

Christopher Learn, MD, a cardiologist and director of the Adult Congenital Heart Program at Mass General, said there has been some progress.

“Much of medical training has been on managing these conditions in the neonatal or childhood period before a surgery or more extensive repair is performed,” he said. “However, the understanding of potential late complications is evolving.”

Congenital heart surgery began in earnest in the 1940s, so patients undergoing the first surgeries are now reaching their 70s and 80s, raising questions about how these conditions can affect people at an age they might not expect to see.

Children who died 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 disturbances, heart failure and neurocognitive problems. This makes the case more interesting for research to guide care tailored to their needs.

Some people assume that their gradually increasing fatigue or weakness are just signs of aging. “We’re trying to make sure that we’re following people appropriately and doing the right kind of surveillance so we don’t miss any late complications,” Learn said. “And if we encounter them, we monitor them appropriately and recommend repeat surgery or catheter interventions when necessary.”

Many adults with congenital heart defects grow up not knowing that neurocognitive problems are more common, John said. “There are a lot of people who think, ‘I didn’t read very well.’ ‘I wasn’t good at math’ or ‘I was a little slow.’”

A. Scientific statement from the American Heart Association Earlier this year, more research was called for on the prevention and management of neurodevelopmental conditions in this group.

“Pediatric surgeons and care teams today are very aggressive in providing early screening and early intervention for any potential neurocognitive issues,” Learn said. “But there are certainly older patients who get through some of these issues without needing a lot of early intervention, and so sometimes we perceive things at the later end of the life spectrum.”

Heart problems that occur later in life vary in complexity depending on the heart defect from which patients survive. And these patients are just as susceptible to other health problems, including obesity, as anyone else in society.

Most (88%) of the Congenital Heart Initiative’s 4,558 participants had at least one health condition in adulthood. The most common heart-related problem was heart rhythm disorders, and the most common non-cardiac condition was mood disorders. Almost half (45%) of women had become pregnant and more than a third (38%) had given birth. 85% of people enrolled in the registry reported that their overall quality of life was high.

“Patient-level registry data like this allows us to evaluate whether the care we provide our patients is truly improving their quality of life,” Awerbach said.

Other researchRates of hospital admissions for heart failure, a common development in these adults, more than doubled from 6.6% in 2010 to 14% in 2020, the Journal of the American Heart Association showed. This increase may be parallel. a paradox that in the broader population people are simply survive long enough Weakened hearts that can no longer pump blood may develop after a heart attack or other seizures.

Learn thinks the overall story is optimistic. He said ongoing care should mean recognizing problems early enough to help avoid some problems later in life.

Cortes, who in addition to patient advocacy works as a project manager for Together for Medicaid at Community Catalyst in Slidell, La., received occasional care. He was born in 1986 with ventricular septal defect and mitral valve stenosis; these conditions were only discovered after birth when a heart murmur was detected. He was born weighing 4 pounds, 14 ounces, and when he was 16 months old, he had open-heart surgery to repair a ventricular septal defect, a hole in the wall between the two lower chambers of the heart. He was later diagnosed with pulmonary stenosis, a narrowing of the valve between the heart and lungs.

Throughout college and graduate school, he did not seek cardiology care after aging outside of his pediatric specialty. Ten years ago he finally found a congenital heart disease clinic for adults. That’s when he heard advice that was new to him, from limiting coffee and alcohol to considering family planning; This was something he had never thought possible before.

“It was a very different experience,” he said. “They checked on my heart condition as far as I can remember when I was growing up, but that was the extent of our visit. “I don’t recall any conversations about transitioning to an adult provider or any conversations about family planning.”

Cortes recalled that the advice was to plan to have only one child at a time because two fetuses had to be aborted during pregnancy, “which may be jarring for some to hear, but I never knew that was an option.”

In the past, the risk of pregnancy was so exaggerated that many patients underwent a sterilization procedure, Learn said. Although pregnancy adds a layer of complexity to the treatment of congenital heart defects, most women do well. “But how we track them, how we make sure we keep them safe and provide the right type and amount of surveillance is still an evolving area,” he said.

When Cortes was asked if he had a family, he was again left without care, in his words, because the specialized care needed by surviving adults was expensive. His job at the time included health insurance coverage, but deductibles meant he had to pay out of pocket for expensive tests.

He now knows what he wants in a doctor: someone who will answer his questions and someone who participates in research to learn more. She found her way to the Adult Congenital Heart Association from the specialist she saw in 2014 and joined the patient advisory board for its inaugural year in 2021 so she could share the resources she values ​​with other patients.

Cortes said his participation in the Congenital Heart Initiative was tied to his hope that his doctor would get involved in the research.

“I’m a big nerd, I’ll be honest,” he said. “I know that research that leads to advances in treatment is the reason I am alive today. So someone had to invent this surgery.”

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