Causes, Symptoms, Treatment & Tests For Diagnosing Congenital Heart Defect

Submitted on March 27, 2012

Congenital heart defect is a condition in which there is a structural problem in the heart structure or the muscles. This is a birth defect that is difficult to correct. Heart defects are the most common of any congenital defects. Since congenital heart defects relate to structural abnormalities, they can severely compromise the normal functioning of your heart. The baby's heart begins to develop almost as soon as conception occurs. If the heart does not develop normally, the normal flow of blood is disrupted.

The blood flow can slow down or the blood may also flow in the wrong direction. In rare cases, the blood flow may be completely blocked. Some of the common congenital heart defects include aortic stenosis, coarctation of the aorta, atrioventricular canal defect, atrial septal defect, and hypoplastic left heart syndrome.

Tests Recommended

Congenital heart defect tests may be performed to check for such defects in an infant. However, most doctors are able to identify a problem by merely examining the child physically. Evidence shows that most doctors perform further testing only when they hear heart murmuring or see cyanosis, which is the appearance of bluish tint on the lips and the nail beds. Once the first indications of the condition are observed, further testing may be performed. There are specific tests to identify various different congenital heart defects.

After a physical examination, which serves as a screening test for the congenital heart defects, the doctor may choose to administer some other congenital heart defect tests. Some of these tests are an echocardiogram, electrocardiogram, chest X-ray, pulse oximetry, and cardiac catheterization. Some of these tests are non-invasive, while others may be invasive in varying degrees. Each of the tests is performed in a clinical setting and in the presence of a certified diagnostician. There are no tests kits available to perform these tests at home.


There are different kinds of heart defects caused by various developmental problems in infants. Some of the congenital heart defect causes include genetic mutations, which are hereditary. Apart from the heredity, which is one of the most common congenital heart defect causes, smoking during pregnancy or consumption of large quantities of alcohol can also cause abnormalities in the development of the baby's heart. If the mother has a bacterial disease or is consuming certain medications, those can also lead to the congenital heart defects.

After 22 days of conception, the baby's heart begins to beat and circulation begins. Though at this point, the heart is not completely developed, it is well on the path of development. By the 28th day after conception, the heart begins to take its shape. During this time, if the baby is does not get proper nutrition or is exposed to pathogens, it could result in the improper development of the heart. Researchers have not been able to find out the exact cause of these defects, but recent researches strongly suggest that the defects are associated with genetics and some medical conditions. There are no obvious symptoms in the mother, and simply rapid breathing may not be an indication of the baby's heart defects.


Different types of congenital defects cause different congenital heart defect symptoms. Since these defects affect the heart's ability to pump blood normally, the circulatory system is severely affected. The symptoms of congenital heart defects are usually very easy to identify. Some of the most common congenital heart defect symptoms include an appearance of a bluish color on your nail beds and lips, poor appetite, labored breathing, failure to gain any weight, murmuring of the heart, decreased strength, excessive sweating, and a fast pulse. These symptoms may be present in babies from the time of birth, albeit some symptoms may develop later in the life.


Congenital heart defect treatment can be approached only after getting an exact diagnosis of the condition. If the condition is asymptomatic and does not pose any real threat to your health, most doctors would not perform any treatments. This can only be determined after a detailed physical examination and diagnostic tests such as EKG (electrocardiogram), chest X-ray, echocardiography, stress testing, cardiac catheterization, and pulse oximetry. Some of the congenital heart defects can also be repaired using catheterization. These techniques allow the doctors to perform minor corrections without performing any major surgeries. In case the defects are large or severe, the doctors may have to perform an open heart surgery. These are extremely complicated procedures and are considered major surgeries. In case the heart has severe defects and complications, you may need a heart transplant.

The treatment of congenital heart defect is based on the type of defect itself. In a lot of cases, the defects do not cause any serious long-term problems. In such cases, the condition can be safely left untreated, albeit fatigue and poor blood circulation may remain. However, in case the condition is causing or posing severe problems, your doctor will have to make a detailed diagnosis and identify the condition so that the treatment can begin. There are different ways of treating congenital heart defects, and the doctor is the best person to tell you which treatment is the most suitable for your problem.