Truncus arteriosus is diagnosed using a combination of physical examinations, medical imaging and diagnostic tests.

During the routine physical examination of a newborn, a pediatrician or neonatologist may observe certain signs or symptoms that could suggest a heart problem. These may include cyanosis (bluish skin or lips), rapid breathing, poor feeding, difficulty gaining weight, or an abnormal heart murmur.

A chest X-ray takes pictures of your heart, lungs and arteries and can reveal signs of heart disease, such as enlarged areas or calcium deposits in your heart and fluid in your lungs.

Providing information about your heart’s electrical activity, an electrocardiogram can help your provider understand your heart rate and whether you have an arrhythmia. Alternatively, your provider might ask you to wear a monitor for a day or two to record how well your heart’s circuitry is working.

Pulse oximetry is a simple and painless test that measures oxygen saturation in a baby's blood. Low oxygen saturation levels may indicate a heart defect, which can be a reason for further evaluation.