When Jennifer Case was living in Los Angeles in her early 30s, she was hospitalized 11 times.
She had been born with two rare heart abnormalities, Ebstein anomaly and Wolff-Parkinson-White syndrome. Her parents were told that she probably wouldn’t live.
She did live. But by her 30s, she had also developed heart failure, a condition in which the heart can’t pump blood throughout the body properly. She had dizziness and swelling in her legs, and at one point during work, she fainted.
She visited three different hospitals with her full history of medical records in hand, but none of the cardiologists thought that serious intervention was needed. Case eventually traveled to Minnesota to see specialists at the Mayo Clinic. They came to a different conclusion than the LA doctors — that one of her critical valves was severely leaking. She had emergency open heart surgery to replace the valve.
“I felt alone” in LA, said Case, now 53. “It was very sad for me not knowing where to turn.”
Case is one of a growing group of patients arising from both the success and weakness of medicine. Advances in treatments for congenital heart abnormalities mean more patients are living into adulthood, with over 2 million adults estimated to have the condition in the U.S. But that means more are also developing heart failure as they grow older — and many aren’t receiving proper care.
A new study published this week in the Journal of the American Heart Association found that while hospitalizations of adults with congenital heart disease stayed stable from 2010 to 2020, the proportion of admissions for those who have heart failure more than doubled from 6.6% to 14%.
These patients with heart failure also had worse outcomes after hospitalization, with an 86% higher risk of death, a 73% higher risk of major heart and brain complications, and a 26% higher risk of hospital readmission.
The findings suggest that adults with congenital heart disease who also have heart failure are an especially high-risk population, and they may need closer monitoring and unique treatment regimens.
“Adult congenital patients are not an emerging heart failure subgroup, but one that has fully emerged and they are in need of specialized heart failure care now,” said Luke Burchill, senior author of the study and a cardiologist at the Mayo Clinic specializing in congenital heart disease.
The issue is that many cardiologists don’t have training to care for this specific type of patient, Burchill said. Congenital heart patients also develop heart failure at a younger age than most, so doctors may miss their heart failure or not address it early enough.
“Heart failure services and care pathways have not been designed for adult congenital heart disease patients, and the adult congenital heart disease services and pathways haven’t been designed for heart failure patients,” he said. “So where does the adult congenital heart failure patient currently land? They don’t land. They fall between the cracks.”
Using a database of claims for people on commercial and Medicare Advantage plans, the study looked at 26,454 patients with congenital heart disease who had been hospitalized. The people with heart failure were more likely to be male, Black, and have comorbidities like irregular heartbeats and diabetes.
The study found that among congenital heart patients with heart failure, those younger than 45 had a higher risk of death, significant complications, and readmission than those older than 45. Burchill said it’s possible the younger patients represent those who are now entering adulthood with more complex cases of congenital disease and had received multiple surgeries growing up.
Alexander Opotowsky, director of the Adult Congenital Heart Disease program at Cincinnati Children’s Hospital Medical Center, who wasn’t involved with the research, noted that there’s much heterogeneity in this patient population that isn’t captured in the study.
Some patients have cases similar to standard heart failure, while others have heart failure caused by specific valve issues or caused by pulmonary hypertension, a type of high blood pressure that affects arteries in the lungs. Each subtype of heart failure requires its own unique kind of treatment, and some cases — like the ones caused by valve dysfunction — may be more directly addressed than others, he said.
Still, Opotowsky agrees with the general message of the study. Adult congenital patients with heart failure “should be thought of as a specific group that has a higher risk of adverse outcomes and should have additional expertise,” he said.
A key issue is that there’s a lack of data on how standard heart failure treatments work in people with congenital heart disease, Opotowsky said, and more trials are needed.
Not only that, but many cases of heart failure aren’t getting caught early enough, said Sumeet Vaikunth, a cardiologist focused on adult congenital heart disease at the University of Pennsylvania who wasn’t involved in the study.
He said he often sees cases of people who were treated for congenital heart disease as a child, and then didn’t receive care as they entered into adulthood since they felt fine. But eventually years later, they end up in the emergency room with heart failure.
“Having preventive care or critical follow-up will hopefully prevent them from getting to the point where they need to be admitted to the hospital,” Vaikunth said. If the patients’ conditions continue to advance without treatment, it’s possible that they end up too sick to be a candidate for interventions like heart transplantation, he added.
For Case, the patient who underwent open heart surgery, the procedure was successful, but her right ventricle has stayed permanently stretched since her valve issue wasn’t addressed for so long while she was in LA. That’s led her to still feel fatigue constantly and has prevented her from doing intense exercise.
Years later, her valve also started leaking again when she was exposed to mold while living in New York. She was repeatedly hospitalized again — six times — with one stay lasting four days.
She eventually got her valve replaced a second time again two years ago, but throughout her adulthood, it’s been a tiring process to try to get proper care.
“I have been a good advocate for myself, I think,” she said. Yet, “it’s tough when you don’t feel well to be an advocate, and I kind of wish that more cardiologists understood that.”
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