Early Diagnosis of Congenital Heart Disease in the Neonatal Period

Congenital heart disease (CHD) is present in 40-60% of children with Down syndrome (DS) and it is the principal variable that determines the morbimortality during the first two years of life of these patients. Advances in fetal echocardiography are providing highly accurate diagnoses of congenital heart disease prior to delivery, making it possible to plan the delivery-room management of these newborns. However, the majority of neonates who have congenital heart disease will not require delivery room resuscitation in excess of routine care. Although cardiovascular evaluation is a standard component of the diagnostic work-up in patients with Down syndrome, physical examination alone does not predict the presence or absence of congenital heart disease en the neonatl period. The changeover of fetal to neonatal circulation with the decrease in pulmonary vascular resistance (increase in pulmonary blood flow), the increase in systemic vascular resistance (the lower-resistance placenta is excluded from the circulation) and the timing of functional closure of the ductus arteriosus may determine the clinical presentation. As physical examination alone is not sufficient to identify cardiovascular anomalies in neonates with Down syndrome and the early detection can improve the outcome of congenital heart defects, we need a newborn screening strategy, because failure to recognise these defects early in life can have serious consequences. Echocardiographic examination provides extensive anatomic and hemodynamic information noninvasively, in real time, and at relatively low cost. A routine echocardiography should be performed in this population in the neonatal period. The aims of this chapter are: 1. Congenital heart disease in Down syndrome. 2. Normal and pathologic transitional circulation. 3. Correlation between cardiac physical examination and echocardiography. 4. Potential benefits of early diagnosis.