Congenital heart disease (CHD) is defined as a gross structural abnormality of the heart, great arteries, or great veins that is present at birth.1 Of all the congenital anomalies, cardiovascular anomalies are the most common, comprising 30% of the total congenital disease.2 Although congenital cardiac malformations are relatively uncommon, the total number of adolescent and adult patients surviving into adulthood is growing considerably, with almost one million people >20 years with CHD in the United States (US).3–6 Approximately 20,000 open-congenital heart operations are performed annually in the US, and >85% of these infants can now expect to reach adulthood due to advances in diagnostics, surgical techniques, intensive care, and interventional devices.1,6–10 The importance of recognizing heart disease in the critically ill adult lies not so much on the potential for possible surgical or nonsurgical intervention but mostly on management of the extracardiac manifestations of long-standing shunting, ventricular hypertrophy, erythrocytosis, or cyanosis and their potential relationship to the presenting condition in the intensive care unit (ICU) as a cerebrovascular accident, manifestation of pulmonary hypertension, or cardiac decompensation from endocarditis.7 Furthermore, as the CHD adult ages, the superimposition of other medical conditions (hypertension, coronary artery disease, and diabetes) further complicates the management.
This chapter will focus on the most common undiagnosed lesions in symptomatic adults and adults with diagnosed disease that is corrected.11–14 Here, the focus will be on the basic anatomy, associated cardiac anomalies, hallmarks of diagnosis, and brief sequelae of each lesion. Consideration is given to the echocardiographic findings in the primary diagnosis of defects commonly presenting in adult life, with a brief discussion of follow-up diagnosis and typical echo findings of simple corrected lesions.
Echocardiography is the mainstay of diagnosis and follow-up for most patients with CHD.15 Echocardiography should be performed using a standardized approach, with an understanding of the underlying anatomy (congenital or postsurgical) and the most likely residual or acquired lesions. This approach prevents the misinterpretation of the findings, poor image formation, or incorrect technique.9
Congenital cardiac lesions can be classified in several ways, all of which aid in understanding the physiology.5,7,10,14 The first classification schema is by anatomic location, which is helpful when performing a screening echo (Table 17.1). The second classification schema is to group the lesions by physiology, which is helpful when doing Doppler studies (Table 17.1). Finally, they can be classified by presentation (Table 17.1).
Table 17.1. Classification of Congenital Heart Disease Lesions |Favorite Table|Download (.pdf)
Table 17.1. Classification of Congenital Heart Disease Lesions
Atrial septal defect, patent foramen ovale
Ventricular septal defect
Patent ductus arteriosus
Left heart malformation:
Bicuspid aorta, l-transposition of the great arteries
Right heart malformation:
Tetraology of Fallot