A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome.

Echocardiography has become the method of choice in the diagnosis of a congenital heart defect (CHD) in neonates with Down syndrome. The most compelling argument for diagnosis of CHD in the neonatal period is the need for early surgical intervention (ideally prior to 6 months of age) in those with a complete atrioventricular (AV) canal. We evaluated the efficacy of a combined approach of physical examination (PE) and electrocardiography (ECG) in the detection of CHD in 49 neonates with Down syndrome. Our findings indicate that most hemodynamically significant defects (78%), especially a complete AV canal, can be detected by this approach. Hemodynamically insignificant minor defects, such as a small patent ductus arteriosus (PDA) and a small atrial septal defect (ASD), may be missed. Thus, echocardiography remains the most sensitive way to diagnose CHD. However, given that the combination of PE and ECG detects the majority of complete AV canal defects, it can be used as an alternative approach when echocardiography is not easily accessible, due to geographic or economic constraints. Follow-up after a few weeks of those with normal PE and ECG findings should enable detection of new symptoms and signs and evolving ECG findings that may have been missed in the immediate newborn period. Patients who are judged by PE and ECG to have CHD will need echocardiographic confirmation.