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Cyanotic Heart Disease

Cyanotic Heart Disease

  • Patent ductus arteriosus
  • Patent foramen ovale


Cyanotic heart disease refers to heart disorders that cause cyanosis, or a blue skin color. It is usually caused by certain congenital heart diseases, or heart defects that are present at birth.

What is going on in the body?

Cyanosis caused by birth defects often shows up at or shortly after birth. Some heart defects prevent enough blood from getting to the lungs, where oxygen is normally taken into the bloodstream. Others allow blood to reach the lungs, but the oxygenated blood is then kept from being pumped into the body's regular circulation. The low oxygen levels in the blood can lead to organ failure and death in severe cases.
The following heart defects can cause cyanosis:
  • pulmonary atresia, in which the opening between the heart and the lungs is abnormal
  • tetralogy of Fallot, in which a malformed heart valve does not allow blood to flow into the lungs
  • transposition of the great vessels, which means the main arteries of the body and lungs are reversed


What are the causes and risks of the disease?

The exact cause of cyanotic heart disease is often unknown. Most of the time, the heart develops abnormally before the person is born. Some factors that increase the risk of heart defects are as follows:
  • alcohol ingested by the mother during her pregnancy
  • chromosomal abnormalities, such as Down syndrome or Turner syndrome
  • an infection, such as rubella, within the womb
  • medicines and drugs, such as retinoic acid, taken by the mother during pregnancy


What can be done to prevent the disease?

Cyanotic heart disease is often not preventable. Pregnant women should avoid alcohol. A woman who may get pregnant should make sure all her vaccines are up to date, to lower the risk of an infection that could be transmitted to the unborn child.


How is the disease diagnosed?

Diagnosis of cyanotic heart disease begins with a medical history and physical exam. An ECG (heart tracing) may show certain abnormalities. A chest X-ray may show enlargement of the heart or certain blood vessels. Often, an echocardiogram (an ultrasound of the heart), is used to diagnose the defect. A special X-ray test called a cardiac catheterization is generally used to confirm the diagnosis.

Long Term Effects

What are the long-term effects of the disease?

If left untreated, severe cyanotic heart disease can lead to permanent organ damage or death.

Other Risks

What are the risks to others?

Cyanotic heart disease is not contagious and poses no risk to others. Parents who have had one child with a heart defect that causes cyanosis have a slightly increased risk of having a second affected child. Genetic counseling may be useful in these cases.


What are the treatments for the disease?

Treatment varies, depending on the underlying defect that causes the cyanotic heart disease. Open heart surgery is often needed to repair the heart defect. In some cases, emergency surgery shortly after birth may be the only hope of survival. In other cases, surgery may be delayed for a year or more. Oxygen can be given to help improve symptoms.
Depending on the defect, different medicines may be used to improve heart function. A person who has cyanotic heart disease is at increased risk of developing infections of the heart wall or arteries. To decrease this risk, antibiotics may be prescribed before dental or surgical procedures.

Side Effects

What are the side effects of the treatments?

Surgery can be complicated by bleeding, infection, and allergic reaction to the anesthestic. Heart medicines may cause allergic reactions, stomach upset, or arrhythmias.

After Treatment

What happens after treatment for the disease?

If the cyanotic heart disease can be treated with surgery or medicines, the outcome can be very good. More severe heart defects require lifelong treatment and monitoring.


How is the disease monitored?

Follow-up care is based on the underlying heart defect. Routine visits to the healthcare provider are required in order to check on status of the heart, the healing of the heart after surgery, and to adjust medicines if needed. The child's growth and development are carefully monitored. Any new or worsening symptoms should be reported to the healthcare provider.


Harrison's Principles of Internal Medicine, 1991

Merck Manual, 1999

Current Medical Diagnosis and Treatment, 1996

Heart Disease: A Textbook of Cardiovascular Medicine, E Braunwald, 1980

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