Cyanotic heart disease

Causes and Risks:
Heart disease that a child is born with is called congenital heart disease (CHD). Some heart defects cause major problems immediately after birth, and some cause few if any problems until, perhaps, adulthood.

Cyanotic heart diseases are congenital heart defects which result in low oxygen levels in the blood and cause the child's lips, fingers, and toes to look blue ( cyanosis ).

Examples of congenital heart defects which cause cyanosis are:

Most congenital heart disease occurs as a single birth defect, though some conditions occur as part of various genetic and chromosomal syndromes. Examples are Down's syndrome , Trisomy 13, Turner's syndrome (XO), Marfan, Noonan's syndrome, and Ellis-van Creveld syndrome.

Drugs, chemicals, and infections during pregnancy may also produce congenital heart abnormalities. Fetal rubella , maternal alcohol use (fetal alcohol syndrome), and retinoic acid (for acne ) are examples of infections, chemicals, and drugs that can cause congenital heart disease.

Prevention:
Avoid the use of alcohol and other drugs during pregnancy . Physicians should be made aware that a woman is pregnant before prescribing for any medications for her. The immune status for rubella should evaluated early in the pregnancy. If the mother is not immune she must avoid any possible exposure to rubella and should be immunized immediately following delivery. Genetic counseling is of little help unless there is a family history of some genetic disease associated with CHD.

Symptoms:

  • cyanosis , seen as a bluish discoloration of the lips, fingers, toes

Other symptoms depend on the specific type of cyanotic heart disease.

Signs and Tests:
Physical examination confirms the cyanosis . Tests will vary depending on the suspected cause, but may include a chest X-ray , arterial blood gas analysis , ECG , or other tests.

Treatment:
Treatment depends on the specific cause.

Prognosis:
See the specific disorder.

Complications:
See the specific disorder.

Call Your Healthcare Provider:
Call your health care provider if your baby develops cyanosis ( bluish skin )!


This is a cross-sectional view of the interior of the heart. The valves, chambers, and associated vessels are labeled.




Cardiac catheterization is used to study the various functions of the heart. Using different techniques, the coronary arteries can be viewed by injecting dye or opened using balloon angioplasty. The oxygen concentration can be measured across the valves and walls (septa) of the heart and pressures within each chamber of the heart and across the valves can be measured. The technique can even be performed in small, newborn infants.




This is an illustration of the exterior of the heart. The arteries are colored blue and represent blood that is flowing into the heart. The veins are red and indicate blood flow out from the heart. The chambers are also labeled.




Clubbing results from chronic low blood-oxygen levels. This can be seen with cystic fibrosis, congenital cyanotic heart disease, and several other diseases. The tips of the fingers enlarge and the nails become extremely curved from front to back.