Children's Hospital Colorado

Cyanotic Heart Disease

What is pediatric cyanotic heart disease?

If your child has pediatric cyanotic heart disease, he or she may not have enough oxygen in the blood circulating from the lungs to other tissues of the body.

With cyanotic heart disease, there is mixing of blue blood (blood already used by the body) with red blood (oxygen-rich blood from the lungs). This mixing, sometimes called a right-to-left cardiac shunt, can be caused by a hole in the heart or by the presence of an abnormal blood vessel. This is known as cyanosis.

Some types of cyanotic heart defects in children include:

Who is at risk for cyanotic heart disease?

Typically, cyanotic heart disease is present at birth. It can be seen more in families with a history of congenital heart disease, may be present in association with some genetic syndromes (such as Turner syndrome or Marfan syndrome), may occur with certain environmental exposures in utero, or may occur sporadically.

Learn about our nationally-ranked Heart Institute.

What are the cyanotic heart disease symptoms?

Pediatric cyanotic heart disease symptoms include blue skin, especially on the lips, fingers, toes and nail beds. The word "cyanosis" literally refers to this blue condition. Some people may have heard this called "blue baby syndrome." Some children with long-standing cyanotic heart disease symptoms also have short, clubbed fingers and puffy eyes.

Infants and babies with cyanotic heart disease may have trouble feeding and decreased appetite. Older children with cyanosis may not have as much energy as other children their age, and exercise often makes the blue color worse and can cause breathlessness.

Note: Just because your child has cyanosis does not necessarily mean they have cyanotic heart disease; cyanosis can also occur from a pulmonary issue. Sometimes acrocyanosis (blue hands and feet) is seen in normal newborn babies, and is due to poor peripheral circulation, but this is a normal condition.

How is cyanotic heart disease diagnosed?

Your child's doctor may suspect cyanotic heart disease after listening to your child's heart and lungs with a stethoscope, or by noticing their blue appearance. Your child may then be referred to the Children's Hospital Colorado Heart Institute for further tests to confirm the diagnosis and determine the underlying cause.

Common tests include:

Helpful resources:

To read more about cyanotic heart disease, visit The National Institutes of Health website.

About cyanotic heart disease treatment options at Children's Hospital Colorado

Monitoring

Depending on the severity of the condition and age of the patient, cyanotic heart disease treatment may require frequent clinic appointments. Your doctor may recommend a cardiac catheterization, which is used to help in the diagnosis and initial treatment of the disease. Watch a video about what to expect for your child's heart catheterization.

Medication

Sometimes, symptoms that are associated with cyanotic heart disease can be managed with medication. Your child's pediatric cardiologist may prescribe a drug or combination of drugs to help manage these symptoms.

Surgery

If your child's cyanotic heart disease treatment includes surgery, doctors at Children's Colorado will schedule open-heart surgery. The doctor will determine the timing of surgery based on the type of defect and the overall well-being of your child.

Learn about our nationally-ranked Heart Institute. 


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