Updated Guidelines for Adults With Congenital Heart Disease Stress the Need for Lifelong Specialized Care
The medical community is now grappling with a critical issue: ensuring that adults born with congenital heart disease receive the specialized care they need throughout their lives. This is a significant shift from decades ago when the prevailing belief was that surviving childhood with congenital heart disease meant patients were in the clear. However, recent advancements in medicine and a growing understanding of the condition have led to the realization that adult congenital heart disease patients require ongoing management and support.
The American College of Cardiology (ACC) and the American Heart Association (AHA), in collaboration with several other societies, have published updated guidelines for the management of adults with congenital heart disease. These guidelines, published in Circulation and the Journal of the American College of Cardiology, aim to address the gaps in treatment that often occur around the time of early adulthood.
Survival Rates and Complex Defects
Congenital heart defects occur in approximately 1% of live births in the US, which translates to about 40,000 infants each year. Ventricular septal defects are the most common type, affecting about half of these cases. While survival rates have improved significantly, with 97% of patients reaching adulthood, complex defects like tricuspid atresia and pulmonary atresia with intact ventricular septum are associated with higher infant mortality and shorter lifespans.
Benefits of Early Detection and Intervention
Caring for adults with congenital heart disease differs from caring for children and adults with acquired heart disease. Georges Ephrem, MD, MSc, an associate professor of medicine, emphasizes the importance of early detection and intervention. When patients fall out of care for extended periods, there is a higher risk of urgent intervention being needed. For patients with moderate or complex disease, some interventions are best performed before the patient becomes symptomatic.
For example, pulmonary valve regurgitation in patients with tetralogy of Fallot can be asymptomatic, with symptoms developing gradually. The guidelines now consider symptom development, ventricular size, and reduced ventricular function when determining valve replacement criteria.
New Guidelines and Recommendations
The updated guidelines include several new and updated sections for managing adults with congenital heart disease. One significant change is the individualized approach to authorizing physical activity, moving away from blanket restrictions. This reflects a more nuanced understanding of the benefits of regular recreational exercise on heart health.
The guidelines also address mental health and neurocognitive conditions, such as mood disorders and cognitive problems, which are experienced by some adults with congenital heart disease. A global survey revealed that almost a third of adults with congenital heart disease reported elevated symptoms of depression and/or anxiety.
Pregnancy and Birth Control
The guidelines provide new recommendations on birth control options, pregnancy, and childbirth. Adults with congenital heart disease interested in pregnancy should receive preconception counseling, including discussions about genetic testing, potential health risks, fetal risks, and safe birthing options. While many patients tolerate the hemodynamic changes of pregnancy without major adverse events, the involvement of specialists in adult congenital heart disease, maternal-fetal medicine, and anesthesiology is crucial.
Specialist Shortage and Advocacy
The ACC/AHA guidelines authors acknowledge the growing challenge of managing the increasing number of adult congenital heart disease patients and the shortage of specialists trained in this field. The number of adult congenital heart disease specialists and specialty centers is inadequate, and many patients face access issues due to being uninsured or underinsured.
To address this, Ephrem and others are advocating for comprehensive real-world data collection, exploring advancements in training models, and addressing the urban/rural divide in expertise. The Congenital Heart Futures Reauthorization Act of 2024 is an example of legislation that should be expanded to support these efforts.
