Cyanotic heart disease is any heart defect present at birth that reduces the amount of oxygen delivered to your body. It’s also called critical congenital heart disease or CCHD. There are many types of CCHD, and most people need oxygen therapy and surgery to survive.
In congenital heart disease, one or more abnormal heart structures (defects) are present at birth. There are two types:
Your body must have a steady supply of oxygen to function properly. Cyanotic heart disease prevents your body from getting the oxygen it needs. Structural abnormalities in your heart can cause severe complications and even death.
Congenital heart disease affects 8 to 9 per 1,000 live births. Of those, about 25% have CCHD.
There are three different types of cyanotic heart disease:
These congenital heart defects reduce blood flow between your heart and the rest of your body (systemic blood flow). Specific conditions include:
These congenital heart defects reduce blood flow between your heart and lungs (pulmonary flow). Specific conditions include:
The third type of CCHD is called mixing lesions. These heart defects cause your body to mix pulmonary and systemic blood flow. Specific conditions include:
Scientists don’t fully understand what causes CCHD. Evidence has shown that some cases may be linked to:
Signs of CCHD usually appear in the first few weeks of life but may not be noticed until childhood. Symptoms include:
CCHD may be detected before a baby is born. If a routine fetal ultrasound shows a possible problem with a baby’s heart, the healthcare provider will order a fetal echocardiogram. This test uses an ultrasound device on the mother’s belly or in her vagina to take detailed pictures of the baby’s heart.
After a baby is born, CCHD is usually first noticed by pulse oximetry screening. This simple, painless test uses sensors to measure oxygen levels. It’s part of standard newborn care before a baby is released from the hospital.
Other tests may include:
Most babies with CCHD will need treatment to survive, including:
Scientists aren’t sure what causes cyanotic heart disease, and there are no proven strategies to prevent it.
Babies with cyanotic heart disease need surgery to survive. Still, mortality is high. About 75% of babies with CCHD survive one year, and about 69% survive 18 years.
Because of low oxygen and congenital heart defects, children with CCHD are at risk for:
If you have CCHD, your healthcare provider will likely recommend that you:
A note from Cleveland Clinic
Cyanotic congenital heart disease involves defects in your heart that reduce the amount of oxygen throughout your body. Most babies with CCHD will need treatment to survive. Treatments include oxygen therapy and surgery to repair the defects or redirect blood flow.
Last reviewed by a Cleveland Clinic medical professional on 02/17/2022.
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