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Cyanotic heart disease

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.

  • Alternative Names

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

  • Causes, incidence, and risk factors

    Normally, blood returns from the body and flows through the heart and lungs. It will then leave the heart with enough oxygen to supply the body's tissues.

    Heart defects can change the way blood flows through the heart and lungs. This abnormal blood flow (called right-to-left shunt) can result in too little oxygen in the blood moving through 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. Others cause few, if any, problems until adulthood.

    Congenital heart defects that may cause cyanosis include:

    Cyanotic heart diseases may be caused by:

    Cyanosis may also be caused by conditions other than congenital heart disease. Such conditions may include lung disease, abnormal forms of hemoglobin (the protein that carries oxygen through the blood), dehydration, and hypoglycemia.

  • Symptoms

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

    Some children have breathing problems (dyspnea) and 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:

    • Anxiety
    • Overbreathing (hyperventilation)
    • Sudden increase in cyanosis

    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 specific type of cyanotic heart disease, and may include:

    • Bluish or grayish skin
    • Feeding problems or reduced appetite
    • Puffy eyes or face
    • Tiredness all the time
  • 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 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 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:

    • Get rid of extra fluids
    • Help the heart pump harder
    • Keep certain blood vessels open
    • Treat abnormal heartbeats or rhythms

    The treatment of choice for many 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.

    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 your doctor 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 doctor. It is very important to have your child's teeth cleaned regularly.

    Ask your child's doctor before getting any immunizations. However, in general, your child should have a flu shot every year and keep up with all other immunizations.

    Some patients may need a permanent pacemaker.

  • Expectations (prognosis)

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

  • Complications

    Complications of cyanotic heart disease include:

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

    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 pressure on the right side of the heart.

  • Calling your health care provider

    Call your health care provider if your baby has:

    • Bluish skin (cyanosis) or grayish skin
    • Breathing difficulty
    • Chest pain or other pain
    • Dizziness, fainting, or heart palpitations
    • Feeding problems or reduced appetite
    • Fever, nausea, or vomiting
    • Puffy eyes or face
    • Tiredness all the time
  • Prevention

    Avoid using alcohol and 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 after delivery. Genetic counseling may be helpful if there is a family history of genetic disorders associated with congenital heart disease.

    Some inherited factors may play a role in congenital heart disease. It is rare, but not impossible for more than one child in a family to have a congenital heart defect. Talk to your health care provider about screening.

  • References

    Webb GD, Smallhorn JF, Therrien J, Redington AN. Congenital heart disease. In: Zipes DP, Libby P, Bonow RO, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007:chap 61.

    Cyanotic congenital heart disease: Evaluation of the critically ill neonate with cyanosis and respiratory distress. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 429.

Review Date: 10/12/2009

Reviewed By: Larry A. Weinrauch, MD, Assistant Professor of Medicine, Harvard Medical School, Cardiovascular Disease and Clinical Outcomes Research, Watertown, MA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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- 2014 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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