Congenital Heart Disease: Basic Principles

Over the past few decades, there has been a tremendous advancement in the medical and surgical management of patients with congenital heart disease (CHD), leading to an improved survival into adulthood. It has been estimated in various population-based studies worldwide that the prevalence of patients with adult congenital heart disease (ACHD) ranges between 2.17 and 6.12 per 1000 adults ( Fig. 139.1 ). The most striking improvement in survival is among the patients with complex CHD ( Fig. 139.2 ). Approximately 90% children with complex CHD are now expected to survive to 18 years of age in the current era. The majority of patients with simple CHD and almost all patients with complex CHD require specialized care throughout their lives for long-term sequelae and complications resulting from the surgical repair or palliation. Moreover, women with CHD not only require prepregnancy counseling for an individualized risk assessment but also monitoring during pregnancy and delivery as well as the peripartum period. To ensure high-quality care for the ongoing increasing demands of this population, adult cardiology practice will need the knowledge and skills to provide optimum care to these patients.

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Age distribution of adults with congenital heart disease (CHD) in the United States as derived from the Adult Congenital Heart Association’s clinic directory. More than half of the adult population with CHD seen in adult CHD clinics is between 18 and 30 years of age.

Adapted with permission from Patel MS, Kogon BE: Care of the adult congenital heart disease patient in the United States: A summary of the current system. Pediatr Cardiol 31:511–514, 2010.

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The numbers and proportions of adults and children with congenital heart disease (CHD) over time in 2000, 2005, and 2010 in Quebec, Canada. A, Patients with all forms of CHD. B, Patients with severe CHD.

Adapted with permission from Marelli AJ, et al: Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010, Circulation 130:749–756, 2014.

ACHD comprises a heterogeneous group of patients with enormous variations in the underlying anatomy, physiology and surgical repair or palliative techniques. Recently, 2018 American Heart Association/American College of Cardiology guidelines for ACHD patients have classified these cardiac lesions on the basis of anatomic and physiologic complexity ( Boxes 139.1 and 139.2 ). The complexity of these lesions range from an isolated atrial or ventricular septal defect to those with complex atrioventricular and ventriculoarterial connections in heterotaxy. The assessment of the severity of CHD should also include physiological factors, including hemodynamically significant intracardiac shunts, hypoxemia, pulmonary hypertension, end-organ dysfunction, exercise limitation, and associated arrhythmias. It is also critical to have knowledge of the original anatomic diagnosis, type of surgical repair or palliation, and the expected complications that may arise over time. Therefore, a comprehensive echocardiographic evaluation of a patient with ACHD should take into account the interplay of these physiologic factors with the underlying anatomy while paying special attention to the expected complications in different lesions ( Fig. 139.3 ).