Cyanotic heart disease refers to a group of many different heart defects that are present at birth (congenital). They result in a low blood oxygen level. Cyanosis refers to a bluish color of the skin and mucous membranes.
Normally, blood returns from the body and flows through the heart and lungs.
Heart defects that children are born with can change the way blood flows through the heart and lungs. These defects can cause less blood to flow to the lungs. They can also result in blue and red blood mixing together. This causes poorly oxygenated blood to be pumped out to the body. As a result:
Some of these heart defects involve the heart valves. These defects force blue blood to mix with red blood through abnormal heart channels. Heart valves are found between the heart and the large blood vessels that bring blood to and from the heart. These valves open up enough for blood to flow through. Then they close, keeping blood from flowing backward.
Heart valve defects that can cause cyanosis include:
Other heart defects may include abnormalities in valve development or in the location and connections between blood vessels. Some examples include:
Certain medical conditions in the mother can increase the risk of certain cyanotic heart disease in the infant. Some examples include:
Some heart defects cause major problems right after birth.
The main symptom is cyanosis is a bluish color of the lips, fingers, and toes that is caused by the low oxygen content in the blood. It may occur while the child is resting or only when the child is active.
Some children have breathing problems (dyspnea). They may get into a squatting position after physical activity to relieve breathlessness.
Others have spells, in which their bodies are suddenly starved of oxygen. During these spells, symptoms may include:
Infants may get tired or sweat while feeding and may not gain as much weight as they should.
Fainting (syncope) and chest pain may occur.
Other symptoms depend on the type of cyanotic heart disease, and may include:
Physical examination confirms cyanosis. Older children may have clubbed fingers.
The doctor will listen to the heart and lungs with a stethoscope. Abnormal heart sounds, a heart murmur, and lung crackles may be heard.
Tests will vary depending on the cause, but may include:
Some infants may need to stay in the hospital after birth so they can receive oxygen or be put on a breathing machine. They may receive medicines to:
The treatment of choice for most congenital heart diseases is surgery to repair the defect. There are many types of surgery, depending on the kind of birth defect. Surgery may be needed soon after birth, or it may be delayed for months or even years. Some surgeries may be staged as the child grows.
Your child may need to take water pills (diuretics) and other heart medicines before or after surgery. Be sure to follow the correct dosage. Regular follow-up with the provider is important.
Many children who have had heart surgery must take antibiotics before, and sometimes after having any dental work or other medical procedures. Make sure you have clear instructions from your child's heart provider.
Ask your child's provider before getting any immunizations. Most children can follow the recommended guidelines for childhood vaccinations.
The outlook depends on the specific disorder.
Complications of cyanotic heart disease include:
Call your provider if your baby has:
Women who are pregnant should get good prenatal care.
Some inherited factors may play a role in congenital heart disease. Many family members may be affected. If you are planning to get pregnant, talk to your doctor about screening for genetic diseases.
Reviewed By: Steven Kang, MD, Director, Cardiac Electrophysiology, Alta Bates Summit Medical Center, Stanford Healthcare, Oakland, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.