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The majority of heart defects obstruct the flow of blood flow in the heart or nearby
vessels, cause abnormal blood flow patterns, or result from the incomplete formation of
the heart. Symptoms vary depending on the defect. Cyanosis, the bluish appearance of the
skin, lips and fingernails, signals a number of congenital heart defects including
pulmonary stenosis (PS), pulmonary atresia, tetralogy of fallot, hypoplastic left heart
syndrome (HLHS), total anomalous pulmonary venous return (TAPVR) and others. Cyanosis
occurs from either a decreased blood flow to the lungs or a mixing of oxygenated and
non-oxygenated bloods. Low blood pressure may also indicate a congenital heart defect.
Mild defects may be diagnosed during routine pediatric office visits when children exhibit
symptoms such as breathing difficulties, feeding problems, or poor weight gain.
Medical Tests Used to Diagnose Congenital Heart Defects
- Chest x-ray: A chest x-ray images the heart and
surrounding thoracic anatomy, shows heart size and shape and reveals whether the heart is
misshapen or enlarged due to disease. Abnormal calcification (hardened blockage due to
cholesterol build up) in the main blood vessels and fluid in the lungs (possible
indication of congestive heart failure) can also be seen.
Chest x-rays can also be used to image pacemakers and artificial heart valves to check for
correct positioning.
- Electrocardiogram (ECG or EKG): An electrocardiogram is a graphical record of
the electrical activity of the heart. A normal ECG, in most cases, rules out the presence
of other cardiac diseases. An abnormal ECG indicates the presence of a cardiac disease and
further investigations are performed. An ECG can be beneficial in detecting the disease
and sometimes even the extent of the disease.
- Echocardiogram (heart ultrasound): This diagnostic technique is an excellent tool to
provide details of the cardiac structures – vessels, valves, and muscle.
Echocardiography is a non-invasive exam in which images are acquired and viewed in real
time without the use of radiation. Echocardiography is often useful in studying the
beating heart and provides some information on functional abnormalities of the heart wall,
valves and blood vessels. Echocardiography with Doppler is used to measure blood flow
across valves, across septal defects (shunts), extent of regurgitations, etc. Color flow
mapping capability is extremely useful in the detection of shunts. Abnormal operation of
the valves can be detected by studying the opening and closing function versus normal
valve function. Echocardiography may also be used to study congenital heart defects such
as a septal defect (a hole in the wall that separates the two chambers of the heart).
- Coronary angiography: In addition to diagnosing coronary
artery disease (CAD) and congestive heart failure (CHF), angiography
is useful for diagnosing or treating children with congenital heart diseases. Angiography
can also image the beating heart in real time and may be useful in evaluating the function
of the heart chambers. The procedure is a minimally invasive procedure and involves
placing a catheter into a major blood vessel and injecting a dye to create an image of the
heart and coronary arteries. Angiography is often used for diagnosing heart disorders, but
is also a valuable tool for guiding therapeutic treatment of the coronary arteries.
Angiography is an excellent tool for imaging blockages in the coronary vessels. It may
also be used during pacemaker implantation to help position the pacemaker leads.
Updated: August 2006
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