We present the findings in a 13-month-old infant with angiographically confirmed congenital corrected transposition of the great arteries and insufficiency of the left atrioventricular valve. Simultaneous intracavitary electrocardiographic and pressure recordings across the left atrioventricular valve were similar to those obtained in Ebsteins' anomaly and suggested Ebstein's disease of the lef...

Congenitally corrected transposition of the great arteries is a rare condition accounting for less than 1% of all congenital cardiac diseases. The fundamental nature of this condition involves a blend of atrioventricular as well as ventriculoarterial discordance. Congenitally corrected transposition of the great arteries is classically associated with three additional abnormalities, including v...

Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated ...