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Cyanotic Heart Disease


Overview, Causes, & Risk Factors

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 birth, or shortly afterward. Some heart defects prevent enough blood from getting to the lungs, where oxygen is normally put into the bloodstream. Others allow blood to get to 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.

Following are examples of heart defects that 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 doesn't 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

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