Evaluation of suspected congenital heart disease

Congenital heart disease (CHD) is the most common congenital anomaly in the United Kingdom (UK). Despite major advances in diagnosis and management over the last decade, CHD remains a leading cause of infant morbidity and mortality. Current existing screening tools fail to identify up to 50% of children with CHD before discharge from hospital. Pulse oximetry screening has been well studied and seems a promising screening tool. Combined use of pulse oximetry with fetal anomaly screening and routine newborn examination could detect the majority of critical CHDs in asymptomatic infants. Notably pulse oximetry screening has yet to be incorporated as part of universal screening programme in the United Kingdom. Echocardiography remains the gold standard investigation but is not always available. Chest X-rays and four limb blood pressures are of limited diagnostic value while electrocardiogram helps in only few diagnoses during infancy. A detailed history and thorough clinical examination are of paramount significance in suspected CHD in infants. As the clinical presentation can mimic or overlap with other common conditions in infancy (sepsis, respiratory or metabolic condition), a high index of suspicion with a systematic approach is vital for the timely diagnosis and management.