Management of Adult Congenital Heart Disease in Primary Care

Medical advancements in pediatric cardiology have improved the detection and treatment of children with congenital heart disease (CHD), allowing these individuals to live longer and healthier lives. Globally, the prevalence of births with congenital heart defects did not change in the last 20 years, but the number of deaths caused by CHD in all ages decreased by 60.4% with 90% of those born with CHD expected to survive into adulthood (Figure).^1-3 Despite these successes, optimal care for the more than 2 million adults with CHD is lacking because few providers are trained in this area of medicine.

It was not until 2015 that the American Board of Internal Medicine recognized adult congenital heart disease (ACHD) as a certified subspecialty.³ Since this time, only 484 US physicians have been certified.⁴ The clinical management and guidelines for ACHD and adults with undiagnosed congenital heart defects have only been published twice, once in 2008 and a full revision in 2018.² The guidelines recommend follow-up at a regional ACHD center for all adult patients at least once.²

While treatment of patients in ACHD centers results in better outcomes than management in other care settings, these centers can serve less than 10% of the estimated population with ACHD.^2,5 Geographical data shows that more than 700,000 ACHD patients live more than 1 hour from a specialized facility.³ Given these barriers to care, primary care clinicians must be educated on how to assist in routine management for this population of patients. 

Primary Care Management of Adult Congenital Heart Disease

Many adolescents and young adults with CHD face several challenges when transitioning from pediatric to adult providers. The main reasons for the gap in care are the lack of knowledge among patients about the need for follow-up care, the inability to find specialized providers, and patients feeling healthy.² Primary care providers can play a key role in educating these patients about the need for lifelong specialized care.

Similar to patients without ACHD, lifestyle modifications to prevent other cardiovascular diseases is imperative. The lifespan of patients with ACHD is increasing and, therefore, so is the risk for cardiovascular disease in this population. Prompt education, prevention, treatment, and management for diseases such as obesity, diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease are vital. Study findings suggest that this population is more receptive to recommendations and may continue to benefit from repetitive guidelines about diet, exercise, and modifiable risk factors.²

Standard 12-lead electrocardiography (ECG) should be performed at each office visit as well as ambulatory ECG monitoring in patients who are at risk of arrhythmias or develop symptoms that are possibly from arrhythmic origin. Patients with ACHD should undergo transthoracic echocardiography with serial assessments based on the anatomic and physiologic severity and patient status. Cardiopulmonary exercise testing can be conducted in a primary care setting and can be useful for baseline assessment and management of activity levels.²

When to Refer Adults With Congenital Heart Disease

Adults with previously treated or newly discovered CHD can be placed into different categories based on the anatomy of the defect and the physiologic stage. Similar to the New York Heart Association (NYHA) classification, patients can move to higher or lower severity groups based on the clinical status of their heart defect. The Table outlines the classification of ACHD, which combines the anatomic with the physiologic state. Category I includes simple anatomy defects, category II includes moderate complexity defects, and category III includes great complexity defects. The classification of physiologic ranges from A-D, with A having minimal to no symptoms and D having severe symptoms. These stages take into account the presence of valve disease, pulmonary hypertension, arrhythmias, aortic dilatation, end-organ function, and cyanosis.²

Table. Adult Congenital Heart Disease Anatomy and Physiology Classification²

CHD Anatomy
I (Simple)	Native disease including isolated small septal defects and mild isolated pulmonic stenosis. Repaired conditions including previously ligated or occluded ductus arteriosus, repaired septum defects without significant residual shunt or chamber enlargement
II (Moderate complexity)	Repaired or unrepaired conditions including aorto-left ventricular fistula, anomalous pulmonary venous connection, partial or total, anomalous coronary artery arising from the pulmonary artery, anomalous aortic origin of a coronary artery from the opposite sinus, AVSD (partial or complete, including primum ASD, congenital aortic valve disease, congenital mitral valve disease, coarctation of the aorta (see full list in Table 4 of guidelines)
III (Severe complexity)	Any cyanotic congenital heart defect, single ventricle, double-outlet ventricle, interrupted aortic arch, mitral or pulmonary atresia, truncus arteriosus
Physiologic State
A	NYHA functional class I, normal exercise capacity, no arrhythmias, no hemodynamic or anatomic sequelae, normal hepatic/renal/pulmonary function
B	NYHA functional class II, mild hemodynamic sequelae, arrhythmias not requiring treatment, mild valvular disease, trivial/small shunts, cardiac limitation on exercise
C	NYHA functional class III, arrhythmias controlled with treatment, significant valvular disease, moderate aortic enlargement, venous or atrial stenosis, hemodynamically significant shunt, end-organ dysfunction responsive to therapy, pulmonary hypertension
D	NYHA functional class IV, arrhythmias not controlled with treatment, severe aortic enlargement, hypoxemia, Eisenmenger syndrome, refractory end-organ dysfunction

Patients with ACHD AP classification IB-D, IIA-D, and IIIA-D should be managed in collaboration with an ACHD cardiologist.² As a primary care provider, it is a standard of care to be aware of local cardiologists and whether any specialize in ACHD care. Given that providers who specialize in ACHD care are scarce, referral and collaborative treatment with an adult cardiologist with the above screening measures is the best alternative.

What Now?

Primary care providers must continue to stay up to date on the current screening guidelines and research regarding ACHD. Nurse practitioners and PAs can become advocates for their patients, providing proper education, screening, and treatment to better the lives of each adult with these conditions.

Addison Daugherty, PA-S, is a student in the Physician Assistant Program at Augusta University in Augusta, Georgia; Amanda Breeden, MPA, PA-C, is an assistant professor at Augusta University Physician Assistant Program.

References

1. Roth GA, Mensah GA, Johnson CO, et al. Global burden of cardiovascular diseases and risk factors, 1990-2019: update from the GBD 2019 study. J Am Coll Cardiol. 2020;76(25):2982-3021. doi:10.1016/j.jacc.2020.11.010
2. Stout K, Daniels C, Aboulhosn J, et al. 2018 AHA/ACC Guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol. 2019;73(12):e81-e192. doi:10.1016/j.jacc.2018.08.102
3. Salciccioli KB, Oluyomi A, Lupo PJ, Ermis PR, Lopez KN. A model for geographic and sociodemographic access to care disparities for adults with congenital heart disease. Congenit Heart Dis. 2019;14(5):752-759. doi:10.1111/chd.12819
4. American Board of Internal Medicine. Number of candidates certified. Updated May 5, 2023. Accessed June 20, 2023. https://www.abim.org/about/statistics-data/candidates-certified.aspx
5. Awerbach J. The current state of ACHD care and training. American College of Cardiology. April 13, 2018.  Accessed June 20, 2023. https://www.acc.org/membership/sections-and-councils/fellows-in-training-section/section-updates/2018/04/13/11/49/the-current-state-of-achd-care-and-training