Congenital heart disease or childhood heart disease (CHD) is a collective term for structural abnormalities of the heart, aorta, or other large blood vessels which are present at birth. Congenital heart defects change the normal flow of blood to the heart. CHD is the most common form of birth defect in Australia, affecting up to 1 in 100 live-born babies.
There are many types of childhood heart diseases and the severity varies in every baby. Some defects are simple and do not require treatment, while others are more complex or life-threatening, and may require multiple surgeries over many years.
Holes in the heart may form in the septum (wall that separates the heart chambers) or between the major blood vessels. A hole will allow oxygen-rich and oxygen-poor blood to mix. If a lot of blood is mixed due to large holes in the heart, the blood circulated around the child’s body will not carry enough oxygen. This is commonly referred to as blue baby syndrome.
Obstructed blood flow occurs when blood vessels or heart valves are narrower than normal due to a heart defect. When this happens, the heart muscle needs to work harder in order to pump blood through the valves and around the body. This can eventually lead to thickening or enlarging of the heart.
Heart valve abnormalities occur when heart valves cannot open and close properly, and oxygen-rich blood cannot flow easily to the rest of the body.
In serious cases of congenital heart disease, symptoms are usually evident immediately after birth or during the first few months of life. Symptoms may include:
Congenital heart defects that are less serious may not present until later in childhood. These symptoms can include:
In approximately 80% of congenital heart disease cases, the cause is still unknown. This is an area our Embryology lab is focusing on. Some of the known causes include:
The heart is the first organ to form in the body and starts to develop when an embryo is the size of a sesame seed. Within the first six weeks of pregnancy, the heart begins to take shape and starts beating. During this time, the major blood vessels that run to and from the heart also begin to form. At this critical point in development, heart defects may occur. Medical research is critical to further understanding the causes of congenital heart disease.
Severe heart defects are usually diagnosed during pregnancy or shortly after birth. Minor defects often have no signs and children are generally diagnosed when they are older. In addition to a regular physical exam, tests to diagnose CHD may include:
Treatments for heart defects vary according to the type of CHD. Defects that are very minor may have no long-term effects and can safely go untreated. In some instances they may even correct themselves as the child ages.
However other defects are more life-threatening and require treatment as soon as diagnosed. Treatment for these defects may require one or more of the following:
Children who have serious and complex heart defects are likely to require lifelong monitoring and treatment. Many will also need multiple surgeries, exercise restrictions, and infection prevention such as antibiotics.
Because eight out of ten cases of CHD have unknown causes, it is often not possible to prevent these conditions. However, there are ways you can reduce your child’s risk of overall birth defects:
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