Clinicians caring for patients with congenital heart disease are now facing a growing challenge: managing the condition in adults. Often adults born with congenital heart disease fall through the cracks when it comes to accessing lifelong specialized follow-up and care. Major societies hope to change that.

On December 18, updated guidelines for management of adults with congenital heart disease, developed by the American College of Cardiology (ACC) and the American Heart Association (AHA) in conjunction with several other societies, were published in Circulation and the Journal of the American College of Cardiology.

Decades ago, people with congenital heart disease had lower odds of survival beyond childhood, so the idea prevailed that surviving to adulthood meant patients did not need ongoing treatment.

Gaps in treatment often occur around the time of early adulthood, the guidelines’ lead author Michelle Gurvitz, MD, MS, told Medscape Medical News.

“Our previous work suggested that these patients tend to feel good and therefore are less likely to pursue follow-up care,” said Gurvitz, a senior associate cardiologist and director of the Adult Congenital Heart Disease Fellowship Program at Harvard Medical School, Boston.

Survival in Congenital Heart Disease

Congenital heart defects occur in approximately 1% of all live births, or about 40,000 infants, each year in the US, amounting to one child born with congenital heart disease every 15 minutes. About half of these cases are ventricular septal defects.

Among infants born with congenital heart disease, about 1 in 4 have a severe defect requiring surgery or other interventions in the first year. The neonatal period and first year of life are critical times for survival. Between 1999 and 2017, about 1 in every 814 deaths occurring in the US were attributable to heart defects, and 48% of these occurred in children younger than 1 year.

With continued improvements, we now know that 97% of patients with congenital heart disease will reach adulthood, and for those alive at age 18, 75% may live into their sixties. However, complex defects like tricuspid atresia or pulmonary atresia with intact ventricular septum are associated with higher infant mortality and shorter average lifespans.

Benefits of Early Detection and Intervention

Caring for adults born with these defects differs significantly from the care of children with congenital heart disease and the care of adults with heart disease acquired later in life, according to congenital heart disease specialist Georges Ephrem, MD, MSc, an associate professor of medicine at the University of Tennessee Health Science Center in Memphis, Tennessee.

“Adult congenital heart disease care entails the management of acquired adult comorbidities, cardiovascular risk factors, and coronary artery disease,” Ephrem, who was not involved with the guidelines, said in an interview. “Some of those issues have a pediatric counterpart, but their magnitude and prevalence in adult care is on a different scale. A major part of adult congenital heart disease care involves integrating baseline pathology with the history of transcatheter and surgical interventions — or lack of — that have occurred by the time the patient enters adulthood.”

The updated guidelines stress the benefits of detecting potential problems early. “When people with adult congenital heart disease fall out of care for 5 or 10 years, there is a higher risk of need for urgent intervention,” Gurvitz told Medscape Medical News. “For our patients with moderate or complex disease, some interventions are best to perform before the patient becomes symptomatic.”

One example is pulmonary valve regurgitation in patients with tetralogy of Fallot, she said.

“This condition can be asymptomatic, with symptoms developing gradually. In our criteria for valve replacement in these patients, we consider symptom development but also look at ventricular size or reduced ventricular function. These can be picked up on surveillance before a person becomes symptomatic,” Gurvitz said.

The new guidelines update the criteria for pulmonary valve replacement in patients with repaired tetralogy of Fallot based on right ventricular end-systolic volume > 80 mL/m² and other metrics, instead of end-diastolic volume.

Important Updates

The recommendations also include several new and updated sections for managing adults with congenital heart disease.

Specifically, the guidelines advocate an individualized approach for authorizing physical activity, which represents a shift away from more blanket restrictions, Gurvitz noted.

In the past, clinicians would typically err on the side of caution when it came to exercise. “Patients in their thirties and forties have told me they were not allowed to participate in gym class or sports as children,” she said. “Our new guideline recognizes the benefits of regular recreational exercise on heart health.”

The guidelines also address mental health and neurocognitive conditions, such as mood disorders or cognitive and memory problems, experienced by some adults with congenital heart disease. In a global survey of 3815 adults with congenital heart disease, almost a third reported elevated symptoms of depression and/or anxiety.

“Some of our patients have experiences that appear similar to PTSD [posttraumatic stress disorder], which may stem from hospitalization and interventions as a young child,” Gurvitz told Medscape Medical News. “One of the most important things we can do is ask our patients about their mental health and help direct them to support.”

The recommendations also feature new and updated recommendations on birth control options, pregnancy, and childbirth.

Adults with congenital heart disease interested in pregnancy, for example, should receive preconception counseling, in collaboration with an adult congenital heart disease cardiologist. Discussions should include genetic testing, how pregnancy can affect their own health, fetal risks associated with pregnancy, and safe birthing options.

The guideline authors noted that many patients with adult congenital heart disease “tolerate the hemodynamic changes of pregnancy without major adverse events,” but emphasize that problems can arise. The involvement of clinicians with expertise in adult congenital heart disease, maternal-fetal medicine, and anesthesiology is paramount.

Physicians should also counsel patients on the benefits and risks of various contraceptive methods, according to the guidelines.

Where Are the Specialists?

The ACC/AHA guidelines authors acknowledged the dilemma between the growing number of patients with congenital heart disease reaching adulthood and the shortage of specialists trained to manage these conditions.

“The number of adult congenital heart disease specialists and specialty centers are still inadequate to meet the demand, in both numbers and geographic distribution,” Gurvitz said. “Then there is the added difficulty of access to care since many patients are uninsured or underinsured.”

Ephrem has made it a mission to address this shortage at an organizational level. “The mismatch between the availability of adult congenital heart disease expertise and the need from this patient population is due partly to a lack of adult congenital heart disease-trained physicians but also a resultof our immense successes in improving diagnosis and treatment of patients with congenital heart disease from younger ages,” he told Medscape Medical News.

In the US, the number of adults with congenital heart disease is now estimated to be twice that of children with congenital heart disease and is growing by approximately 5% per year.

In an American Journal of Cardiology paper published in November 2025, Ephrem lays down a call to action to address this issue:

• Survey the current workforce specializing in adult congenital heart disease to gather comprehensive real-world data to apply in future advocacy and policy making efforts.
• Explore advancements in training models for treating adult congenital heart disease, some of which are already underway. One example is an American Board of Internal Medicine initiative to develop a training pathway in adult cardiology and adult congenital heart disease, streamlined to 4 years’ completion instead of 5.
• Explore initiatives to address the significant urban/rural divide in the availability of adult congenital heart disease expertise. This might include expanding adult congenital heart disease training as part of the general cardiology fellowship.
• Engage in advocacy to call attention to the unique needs of patients with adult congenital heart disease and the value of providing specialized care.

“As the gap between the growth of the adult congenital heart disease patient population and the paucity of trained, board-certified adult congenital heart disease physicians continues, the problem will only become more consequential,” Ephrem stressed.

He pointed out that legislation such as the Congenital Heart Futures Reauthorization Act of 2024 (H.R. 7189/S. 3757), “should be emulated and expanded so we can turn the trend around and start heading into a more promising direction.”

Ephrem and Gurvitz reported no relevant financial conflicts of interest.

Katherine Wandersee has more than 30 years’ experience as a medical writer for professional medical audiences.