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Services > Heart > Pediatric Services

What is congenital heart disease?

Congenital Heart Disease is the term used to describe abnormal development of the heart prior to birth that results in structural defects in the heart. This problem in development can be very minor and result in simple defects (for example a hole or a blood vessel that doesn't close up) or can be very complex. Eight of every thousand children are born with a congenital heart defect. Congenital heart defects develop before the end of the first trimester of pregnancy. The heart is formed between the 15th and 50th day of fetal life. It is an amazingly complex process of fusing, twisting, growing walls and growing vessels near the heart itself. In many ways it is surprising that so few children have problems.

How is congenital heart disease identified?

Because of the range in problems, how and when a child is diagnosed with a congenital heart defect is variable. In some children it is obvious and in other children you would never be able to tell. Some children are noted to have a problem from birth due to cyanosis (blue coloring), heart failure (with difficulty breathing), or a significant heart murmur. Other children may not be diagnosed until much later in life. Later diagnosis may occur because the problem is so subtle it is difficult to discern or because of changes that occur in newborns and infants over time mask any symptoms. During the first six months of life, the pressure in the blood vessels of the lungs falls to a low level. Until that pressure reaches a normal low level, some symptoms may not appear.

The most common way to diagnose a congenital heart defect is by your physician hearing a murmur (an abnormal sound of blood flowing in the heart). But even murmurs can be normal variations and are not always diagnostic for the physician. Other diagnostic studies will be conducted as needed to determine if your child has congenital heart disease.

Did I cause the heart defect?

Many parents are concerned that they "did something" or "didn't do something" that caused a problem in the development of their child. At this point we do not know what causes congenital heart disease. We do know that it appears to be multi-factorial -- many things seem to be involved. We know that there is some kind of genetic link, as we see certain heart defects more commonly in specific chromosomal syndromes (such as Down Syndrome). We also know there is a small but increased chance of other family members having similar heart problems. Heart defects can occur if the mother is exposed to certain viruses (such as Rubella or German measles) during pregnancy. And certain drugs are associated with an increased chance of heart defects (such as alcohol, anticonvulsants, and lithium). Because of the complexity of determining how a heart defect is created by all these different mechanisms, we cannot as yet explain how congenital heart disease occurs.

A multidisciplinary approach by a team of specialists in a facility equipped and used for the management of large numbers of children with congenital heart disease is needed to optimize the outcome with these patients..

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  • Frequently Asked Questions: Preparing Your Child

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