Cyanotic Heart Disease

Also known as: congenital heart disease, “blue babies.”

What is cyanotic heart disease?

Cyanotic heart disease refers to a group of congenital (present at birth) heart defects in babies that present with a characteristic blue color of the skin. This blue color is known as cyanosis. With this condition, the blood that is pumped out to the body from the heart does not carry enough oxygen from the lungs.

Cyanotic heart disease results from a number of conditions where blood from the body (where the oxygen has already been used by the body tissues) mixes with the blood from the lungs carrying oxygen. This mixing is sometimes called a left-to-right shunt. Types of cyanotic heart disease include valve defects like Tricuspid, Pulmonary or Aortic valve narrowing or absence, Tetralogy of Fallot, Truncus arteriosus, pulmonary valve atresia, Ebstein's anomaly and Total anomalous pulmonary venous return.

What causes cyanotic heart disease?

Causes include: genetic and chromosomal abnormalities, infections during pregnancy, poorly controlled diabetes in the mother, a number of medications and street drugs used during pregnancy etc.

What are the symptoms of cyanotic heart disease? 

Cyanosis, or the blue color of the skin on the fingers, toes or lips, is the most common symptom of cyanotic heart disease. It can also cause breathing problems, feeding trouble, fatigue, anxiety and other problems.

What are cyanotic heart disease care options? 

Treatments include, oxygen (and/or breathing machines), medications to get rid of fluid, to keep open some blood vessels needed to get blood to the baby’s tissues and treat abnormal heart beats, and, depending on the cause, early or later surgery. 

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 3/23/2018 2:06:30 PM


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