Definition Congenital heart disease, or CHD, is any birth defect involving the heart or the large blood vessels. Congenital means that the defect is present at birth.
What is going on in the body? There are many different birth defects that can affect the heart. For example, the valves of the heart may be missing or not work properly. In other cases, there may be holes in the walls of the heart or abnormal connections between blood vessels and the heart. These heart defects can occur for different or unknown reasons. The defects may be mild and cause no problems or be life threatening and require surgery hours after birth. Some common congenital heart defects include:
atrial septal defect, or an abnormal opening between the two upper chambers of the heart
What are the signs and symptoms of the disease? Symptoms of CHD can be present at birth, in early infancy, or may only develop later in life. Symptoms depend on the type and severity of the defect. Examples of symptoms and signs of CHD include:
an abnormal blue colour to the skin, called cyanosis, which occurs when there is not enough oxygen in the blood
alcohol and drug abuse by the mother during pregnancy
certain medications used by the mother during pregnancy, such as medications used to treat seizures
What can be done to prevent the disease? Often nothing can be done to prevent CHD. Women of childbearing age should make sure they have received all standard vaccines. This can help prevent cases due to certain viral infections during pregnancy, such as rubella. Avoidance of alcohol and substance abuse during pregnancy will prevent these causes of CHD.
How is the disease diagnosed? The physical examination usually makes the doctor suspect CHD. There are many tests that can help diagnose CHD. These include:
an ECG, or heart tracing, which measures the electrical activity of the heart
a chest X-ray, which allows the doctor to see the size and position of the heart
an echocardiogram, which is a test that uses sound waves to see the beating heart. This test can check how well the heart is beating and also visualise many heart defects.
a cardiac catheterisation, which allows measurement of blood flow and pressure within the heart and great vessels
What are the long-term effects of the disease? Small defects may eventually repair themselves and cause no long-term effects. The long-term effects usually depend on how bad the CHD is. Some untreated heart defects can be fatal. Larger defects usually cause more symptoms. Whether or not surgery can repair the defect will greatly affect the outcome.
Until the defect is corrected, the heart is under a lot of strain. The heart can get larger in size and not beat in a normal rhythm. People can develop high blood pressure, and the lungs can become congested. Those with heart defects are often at an increased risk for heart infections, which may be life threatening.
What are the risks to others? CHD itself is not contagious and poses no risk to others. However, infections that cause CHD, like the rubella virus, may be contagious. Genetic causes of CHD may be passed on to one's children. Genetic counselling may be helpful for some parents.
What are the treatments for the disease? Treatment often involves open heart surgery to correct the heart defect. Sometimes more than one defect occurs at the same time and more than one operation is needed. With certain defects, medication may be all that is needed. In others, no treatment other than observation is needed.
What are the side effects of the treatments? Surgery to correct a heart defect can be simple or very complicated. Side effects of treatment depend on the severity of the defect. Some people recover completely while others may still have a problem with high blood pressure and a very strained heart. The heart may not beat in a normal rhythm. Surgery itself can be very risky and sometimes fatal. Bleeding and infection may also occur.
What happens after treatment for the disease? The person needs time to recover fully after surgery. Antibiotics to help fight infection and other medications to help the heart may be given after surgery. Close monitoring of the heart and lungs is needed. Sometimes, a person will need more surgery later in life.
How is the disease monitored? Regular visits to the doctor and regular testing are needed. This helps check that the heart is working properly and the lungs remain clear.
Author: Reviewer: HealthAnswers Australia Medical Review Panel Editor: Dr David Taylor, Chief Medical Officer HealthAnswers Australia Last Updated: 1/10/2001 Contributors Potential conflict of interest information for reviewers available on request
