A newborn with cardiomegaly

An infant with Down's syndrome was noted to have hypoxemia and tachypnea at birth. The clinical examination, electrocardiogram (ECG) and the chest X-ray findings suggested a specific diagnosis that is not usually associated with Down's syndrome. Despite the extremely rare association of Ebstein's anomaly with Down's syndrome, this diagnosis was highly suspected from the initial evaluation. An echocardiogram confirmed the diagnosis of Ebstein's anomaly in this neonate. So far, only about seven cases of Ebstein's anomaly associated with Down's syndrome have been reported in the literature. This case is discussed for its rarity; it also highlights the importance of clinical examination and initial investigations that had suggested the diagnosis well prior to that of the echocardiogram.