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Heart, section through the middle
Heart, section through the middle


Heart, front view
Heart, front view


Cyanotic heart disease
Cyanotic heart disease


Definition:

Cyanotic heart disease is a heart defect, present at birth (congenital), that results in low blood oxygen levels. There may be more than one defect. The defect affects the structure or function of the heart or vessels.



Alternative Names:

Right-to-left cardiac shunt; Right-to-left circulatory shunt



Causes, incidence, and risk factors:

Heart defects can change the way blood flows around the heart and lungs. This abnormal blood flow (called right-to-left shunt) causes too little oxygen to move through the blood to the rest of the body.

Cyanotic heart disease causes the child's skin to look blue (cyanosis ). This bluish color is most often seen on the lips, fingers, and toes, or during exercise. Some heart defects cause major problems immediately after birth, and some cause few, if any, problems until adulthood.

Congenital heart defects that may cause cyanosis include:

Most congenital heart diseases affect only the heart, but some conditions many affect many organs. Most congenital heart diseases are not cyanotic.

Some cyanotic heart diseases are caused by drug use, chemical exposure, or infections (such as rubella ) during pregnancy.

Cyanosis may also be caused other conditions that are usually not associated with congenital heart disease. Such conditions may include lung disease, abnormal forms of hemoglobin (the protein that carries oxygen through the blood), dehydration, and hypoglycemia .

Cyanosis is a sign of Eisenmenger syndrome, a condition that occurs in patients with congenital heart disease. Eisenmenger syndrome occurs as a complication of increased blood flow from the left side of the heart directly to the lungs. This results in severe lung diseases and increased pressures on the right side of the heart.



Symptoms:

One symptom is cyanosis, usually seen as a bluish discoloration of the lips, fingers, and toes.

Some children have dyspnea (breathing problems) and adopt a squatting position after physical activity to relieve breathlessness. Others have hypoxic spells, where their bodies are suddenly starved of oxygen. These are characterized by anxiety, hyperventilation, and a sudden increase in cyanosis. Infants may get tired or sweat while feeding and may not gain the weight they should.

Syncope (fainting) and chest pain may occur.

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



Signs and tests:

Physical examination confirms cyanosis. The child 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 be extensive and include:

  • Chest x-ray
  • Complete blood count (CBC)
  • Transcutaneous oxygen monitor (pulse oximeter)
  • Arterial blood gas
  • ECG (echocardiogram)
  • Echo-Doppler
  • Transesophageal echocardiogram (TEE)
  • Nuclear imaging tests
  • Cardiac catheterization
  • Electrophysiologic study (EPS)
  • MRI of the heart


Treatment:

Some children may need to stay in the hospital so they can receive oxygen or be put on a breathing machine.

Medication, such as digoxin, diuretics, antiarrhythmics, and prostaglandins, may be prescribed.

The treatment of choice for many congenital heart diseases is surgery to repair the defect. There are many types of surgery, depending on the type of birth defect.

Some patients may need a permanent pacemaker.



Support Groups:



Expectations (prognosis):

See the specific disorder. Some of these conditions may unfortunately cause sudden death.



Complications:

Complications of cyanotic heart disease include:

  • Heart failure
  • Polycythemia
  • Arrhythmias
  • Stroke
  • Infectious endocarditis
  • Brain abscess
  • Hemoptysis (coughing up blood)
  • Impaired growth
  • Pulmonary hypertension


Calling your health care provider:

Call your health care provider if your baby develops cyanosis (bluish skin) or if breathing seems difficult.



Prevention:

Avoid the use of alcohol and other drugs during pregnancy. Women who are (or think they might be) pregnant should notify their doctor before receiving prescriptions for medications. Women with manic-depressive disorder should consult their health care provider about the risks and benefits of various treatments for this condition during pregnancy.

The immune status for rubella should be 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 may be helpful if there is a family history of genetic disorders associated with congenital heart disease.



References:

Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007.




Review Date: 12/10/2007
Reviewed By: David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.; and Mark A Fogel, MD, FACC, FAAP, Associate Professor of Pediatrics and Radiology, Director of Cardiac MR, The Children's Hospital of Philadelphia.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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Phone: (603) 742-5252
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