Closing care gaps in adult congenital heart disease

Many patients who are congenital heart disease survivors face gaps as they transition out of pediatric care, leading to problems that might have been avoided had they received appropriate, continuous care.


A young, otherwise healthy woman tells her internist that she has been having difficulty breathing during mild exercise, such as climbing stairs. On examination, the internist notices a scar on her chest and asks what it's from. “Oh, that was from a heart condition I had a long time ago,” the woman responds, “but it was fixed when I was a baby.”

This type of scenario is one of the most common presentations of adult congenital heart disease (ACHD) in the primary care setting, said Robert Elder, MD. Patients have surgeries as an infant, don't experience further symptoms, and eventually stop receiving care, considering themselves cured.

Internists can play a critical role in identifying adult survivors of congenital heart disease and restoring ongoing care Image by Shidlovski
Internists can play a critical role in identifying adult survivors of congenital heart disease and restoring ongoing care. Image by Shidlovski

“The problem is that ‘fixed’ almost never means ‘cured’ in this patient population,” said Dr. Elder, who is director of the Adult CHD Program at Yale School of Medicine in New Haven, Conn. “Some patients either don't know or were mis-counseled about the importance of ongoing care, and only come back into care when they see their physician about another problem—and their heart surgery comes up in passing.”

Many ACHD patients face gaps as they transition out of pediatric care due to a variety of factors, including a lack of symptoms, lack of knowledge about the need for follow-up, lack of specialized clinicians, and lack of insurance, according to an updated guideline on ACHD issued in 2018 by the American Heart Association and American College of Cardiology (AHA/ACC).

Those gaps can lead to patients developing problems down the road that might have been avoided had they received appropriate, continuous care, the guideline authors noted. The guideline recommends that all ACHD patients, especially those with more severe cases, receive specialty care by a cardiologist certified in ACHD.

“Internists play a critical role in helping identify these patients,” said Jamil Aboulhosn, MD, director of the Ahmanson/UCLA Adult Congenital Heart Disease Center at the University of California, Los Angeles, and a coauthor of the updated guideline. “They can help get patients plugged into the necessary resources and back into ongoing care.”

Prevalence of ACHD

The prevalence of ACHD has grown over the past 50 years, driven by advances in diagnosis and treatment. According to the guideline, 90% of children with the most complex cases now survive to adulthood.

“About 1% of the population has a significant heart problem that they were born with, and there are now significantly more adults than children living with [congenital heart disease],” said Dr. Aboulhosn.

The heterogeneity of the disease presents significant management challenges, he added. Congenital heart disease encompasses a wide range of structural defects that can occur individually or together, requiring different types of surgical repairs. Patients can develop complications of their conditions or surgeries after years of living symptom-free.

In addition, the guideline stated, patients with ACHD often develop comorbid noncongenital heart conditions, such as coronary artery disease, heart failure, and arrhythmias, as well as other chronic conditions, such as hypertension or diabetes. These patients often require care by a multidisciplinary team of specialists, including internists.

As more patients survive longer, physicians are seeing more adults with complex forms of ACHD as well as multisystem diseases affecting the liver, kidney, and lungs, said Sara Partington, MD, a cardiologist with the Philadelphia Adult Congenital Heart Center, a joint program of Penn Medicine and the Children's Hospital of Philadelphia. These patients require co-management by an internist, cardiologist, congenital heart disease specialist, and various other subspecialists.

“The good news is the outlook for these patients is often great,” said Christopher Learn, MD, FACP, a cardiologist with the Adult CHD Program at Massachusetts General Hospital in Boston. “But there can be late complications that are insidious, and it's often not until patients have an arrhythmia or advanced valve problem or are pregnant that they come back into care.”

Common presentations

Internists will occasionally see young adults with previously undiagnosed disease, said Dr. Partington. These patients may present with shortness of breath, fatigue, or heart palpitations.

Such symptoms in young adults can indicate a previously undetected atrial septal defect, she said. Less complex defects may not cause symptoms during childhood but, left untreated, can damage the heart and lungs over time and eventually require surgery.

Hypertension in younger adults should also arouse suspicion as it could indicate undiagnosed coarctation, which often causes no symptoms until adulthood in mild cases, said Dr. Aboulhosn. Measuring the pulse in the arm and leg simultaneously can help identify these patients, as their blood pressure is commonly lower in the legs.

In most cases, however, internists are likely to encounter congenital heart disease in adults who have fallen out of care after being diagnosed and treated as children. “Any patient with a scar on their chest should arouse suspicion about heart surgery,” said Dr. Aboulhosn. “Many patients move around when they get older and might not be in touch with their family or know the details of their diagnosis as a child.”

Many adult patients present with complications from their initial surgeries, said Dr. Partington. A common issue is severe pulmonary regurgitation stemming from surgery as an infant that involved enlarging the pulmonary valve and right ventricular outflow tract.

“These patients may have had pulmonary regurgitation their whole lives that was well tolerated during childhood,” she said. “Now, they are developing right ventricular dilation or dysfunction and may need a pulmonary valve replacement.” Similarly, patients who have had repairs for narrowing of the aorta can develop renarrowing over time that may require stenting or dilation.

Internists should be especially alert to the possibility of endocarditis in ACHD patients who present with fever, said Dr. Aboulhosn. Unless there is a clear reason for the fever, like influenza, physicians should not assume that the patient has a bacterial infection that can be treated with antibiotics.

“Prescribing antibiotics makes it much more difficult to get an infection identified and appropriately treated,” he said. “In any [congenital heart disease] patient with a fever of unclear origin, check their blood cultures and inflammatory markers to make sure they don't have a heart valve or bloodstream infection which, if left untreated, can lead to major morbidity and mortality.”

Ongoing care

Follow-up and monitoring vary according to severity and complexity of disease, experts said. Internists should refer to the new grading system included in the updated guideline to classify patients and triage them into the appropriate level of care (see sidebar).

The guideline suggests that all patients see an ACHD specialist at least once, and Dr. Aboulhosn noted that the Adult Congenital Heart Association includes a searchable directory of specialized ACHD clinics on its website. However, many patients can be safely co-managed by an internist and cardiologist after that initial assessment, said Dr. Partington. Patients with mild to moderate disease might do well with annual follow-up visits while those with more complex cases might need to be seen every three to six months.

A thorough physical exam should be done at all follow-up visits, including an electrocardiogram (EKG), said Dr. Elder. It's important to compare EKG results with prior findings to note any changes, he said—the patient might have a left bundle-branch block from an earlier repair, for example, that has existed for a while without causing symptoms.

Internists should also use pulse oximetry, since some ACHD patients have low oxygen saturation or cyanosis, he said. He suggested establishing a baseline saturation level and aiming to maintain it.

An echocardiogram is another good screening tool to get a general sense of a patient's cardiac function, said Dr. Learn. More complex cases should be referred to a specialized congenital heart disease center, since not every echocardiogram lab is experienced in interpreting congenital heart disease studies.

ACHD patients have a higher than average risk of acquired heart disease, partly due to sedentary lifestyles, said Dr. Elder. As a result, it's critical to keep a close eye on blood pressure and cholesterol levels and to counsel patients about the importance of eating a healthy diet, exercising, and avoiding tobacco use.

As children, patients may have been told to refrain from aerobic exercise, he added, but for most patients, aerobic activity is safe and encouraged. “Acquired heart disease, including myocardial infarction, is one of the most common reasons for death in this population,” Dr. Elder said.

Patients should also be told to pay close attention to dental hygiene, he added, since endocarditis can start as problems in the mouth that trigger bloodstream infections.

Mental health issues are common among adults with congenital heart disease, said Dr. Learn. Patients should be screened for depression and anxiety and encouraged to follow up with mental health care clinicians. “Many patients are reluctant to seek care, partly because they may have had anxious or traumatic experiences with the health care system as children,” he said.

Data on cancer risk associated with ACHD is just beginning to emerge as patients survive into late adulthood, noted Dr. Elder. However, preliminary research suggests that this population may have a higher rate of cancer, making it critical to ensure that they get all recommended cancer screenings.

For now, however, the single most important factor is keeping these patients in care, he said. “Studies have shown that almost half of patients had gaps of three years or more without seeing anyone who knew about their [congenital heart disease],” Dr. Elder said. “These patients can live long, full lives, but they need to be in care and monitored for complications.”