Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome.

Abstract

Congenital heart disease (CHD) is present in approximately 50% of patients with trisomy 21 (T21) and Turner syndrome (TS). According to the American Academy of Pediatrics, every patient with these genetic disorders should have a postnatal echocardiogram. T21 is usually associated with atrioventricular (30%-60%), atrial (16%-21%), or ventricular septal defects (14%-27%). TS is usually associated with left-sided heart disease. However, the spectrum of CHD in these genetic disorders is wider than those mentioned lesions. More cardiac surgical procedures are offered to these patients and that has influenced positively their life expectancy for some CHD conditions. Single ventricular anatomy is associated with high mortality in these genetic disorders (49% in T21 and 83%-91% in TS). The goal of this article is to describe the spectrum of CHD, screening guidelines, and cardiac surgical outcomes in patients with T21 or TS with CHD.