There are many steps involved in diagnosing congenital heart disease, starting with a review of the patient’s history and physical examination to assess whether the patient already has heart disease. Then the patient is sent to perform other tests like chest x-ray, electrocardiogram, echocardiogram and cardiac catheterization or other tests to enable correct diagnosis of congenital heart disease.
Preliminary Diagnosis from a Review of the Patient’s History
A review of the patient’s history is performed to aid in the diagnosis of congenital heart disease which is similar to ordinary diseases. Questions should be asked about important symptoms that lead patients to suspect heart disease and to seek diagnosis and treatment such as abnormal fatigue. In young children and babies, it is possible to observe that they become easily fatigued when breastfeeding and periodically take breaks or require an excessively long time to breastfeed or that they have flared nostrils or indentations in the ribcage, in addition to not gaining weight or easily sweating or having an abnormal heart sound. In severe cases, they might also have cyanosis. Cyanosis is the darkening of the skin, tongue and nails and it worsens when crying. In older children, other symptoms may also be present, like panting after a physical activity or exercise, and some cases might experience fainting or chest pains.
Special Tests for Congenital Heart Disease
Electrocardiogram can help indicate the rhythm or rate of the beating of the heart, whether or not each chamber of the heart is enlarged and whether or not the heart cells suffering from a blood supply shortage or there is inflammation of the heart muscles due to infection.
A chest x-ray or lung x-ray can show the position, size and characteristics of the heart and pulmonary arteries in addition to being able to tell the size and shape of the heart to provide information on whether or not there are abnormalities. The test can also tell whether or not the patient is experiencing pulmonary edema.
Echocardiogram is divided into 2 types as follows:
Transthoracic echocardiography allows people to see abnormalities of the heart valves and arteries, including the direction of blood flow, and it can potentially describe the pressure inside the heart chambers and arteries. The test is safe and painless and produces no side effects from sound waves. However, the child has to cooperate by lying still for a period of time. In cases where young children are uncooperative and cry, the test results will be poor and inaccurate, so it might be necessary to administer a mild sedative before performing the test.
Transesophageal echocardiography is a test performed when transthoracic echocardiography provides an unclear result, e.g., to view leaks of the heart chambers on the upper side or to observe blood clots in the left atrium. The test is also performed alongside procedures to close leaking walls of the heart.
Cardiac Catheterization
In cases where the congenital heart disease is severe or complex and clear results cannot be obtained from echocardiogram, cardiac catheterization and angiography are necessary along with a measurement of pressure inside the heart chambers and arteries in order to plan treatment correctly and safely.
