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
Symptoms & Signs
What are the signs and symptoms of the disease?
Symptoms of cyanotic heart disease can vary, depending on the underlying congenital heart disease. All children with cyanotic heart disease have constant or intermittent bluish discoloration of the skin, known as cyanosis. Other symptoms may include the following:
abnormal breathing, either rapid or periodically absent
decreased movement and response to stimulation
failure to thrive, or failure to grow properly
flaring of the nostrils due to increased effort to breathe
Later in childhood, exercise may worsen symptoms and bring about spells. These can result in anxiety, labored breathing, and worsening cyanosis.
Diagnosis & Tests
How is the disease diagnosed?
Diagnosis of cyanotic heart disease begins with a medical history and physical exam. An EKG, or heart tracing, may show certain abnormalities. A chest X-ray may show enlargement of the heart or certain blood vessels. Often, an echocardiogram, or ultrasound of the heart, is used to diagnose the defect. A special X-ray test called a cardiac catheterization is generally used to confirm the diagnosis.
Prevention & Expectations
What can be done to prevent the disease?
Cyanotic heart disease is often not preventable. Pregnant women should avoid alcohol. A woman who may get pregnant should make sure all her vaccines are up to date, to lower the risk of infection in the womb.
What are the long-term effects of the disease?
If left untreated, severe cyanotic heart disease can lead to permanent organ damage or death.
What are the risks to others?
Cyanotic heart disease is not contagious and poses no risk to others. Parents who have had one child with a heart defect that causes cyanosis have a slightly increased risk of having a second affected child. Genetic counseling may be useful in this case.
Treatment & Monitoring
What are the treatments for the disease?
Treatment varies, depending on the underlying defect that causes the cyanotic heart disease. Open heart surgery is often needed to repair the heart defect. In some cases, emergency surgery right after birth may be the only hope of survival. In other cases, surgery may be delayed for a year or more after birth. Oxygen can be given to help improve symptoms. Depending on the defect, different medicines may be used to improve heart function. A person who has cyanotic heart disease is at increased risk of developing infections of the heart wall or arteries. To decrease this risk, antibiotics may be prescribed before dental or surgical procedures.
What are the side effects of the treatments?
Surgery carries a risk of bleeding, infection, and allergic reaction to anesthesia. Heart medicines may cause allergic reactions, stomach upset, or arrhythmias.
What happens after treatment for the disease?
If the cyanotic heart disease can be treated with surgery or medicines, the outcome can be very good. More severe heart defects require lifelong treatment and monitoring.
How is the disease monitored?
Follow-up care is based on the underlying heart defect. Routine visits to the healthcare provider are made to check on status of the heart, the healing of the heart after surgery, and to adjust medicines if needed. The child's growth and development will be carefully monitored. Any new or worsening symptoms should be reported to the healthcare provider.