Evaluation of suspected congenital heart disease

Congenital heart disease {CHD} still accounts for significant morbidity and mortality, despite major advances in diagnosis and management. It predominantly manifests in the neonatal period and early infancy. Presentation is protean ranging from a well baby with a heart murmur to a baby in extremis. Although advances in antenatal ultrasonography and foetal echocardiography continue to improve detection rates a significant proportion of CHD is still undiagnosed at birth emphasizing the need for a detailed history and meticulous clinical examination. No reliable screening tool exists but pulse oximetry can be quite useful despite its relatively low sensitivity. Limb blood pressure values are quite variable in the newborn and hence should be interpreted with caution. Chest X-ray with a focus on cardiac size and pulmonary vascularity can be useful in the evaluation of cyanotic heart conditions. ECG can provide additional information about axis and chamber hypertrophy. Echocardiography is the gold standard but not always available. Once a diagnosis of CHD is suspected the priority is to stabilize the infant. This usually involves initiation of advanced life support and commencement of Prostaglandins to keep the duct open. As clinical presentation of CHD is broad and similar to other conditions such as sepsis and metabolic disorders a high index of suspicion and systematic approach remain vital to make a timely diagnosis.