Cyanotic heart disease

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Cyanotic heart disease

Definition

Cyanotic heart disease is aheartdefect, 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

Cyanotic heart disease results in abnormal blood flow from theright to the left part of thebody. This abnormalblood flow(called right-to-left shunt) causes too little oxygen to move through the blood.

Cynanotic 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 cause cyanosis include:

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

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

Cyanosis may also be caused by 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.

Syncope (fainting) and chest pain may occur.

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

Exams 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 thecause, but may be extensive and include:

  • Chest x-ray
  • Complete blood count (CBC)
  • Arterial blood gas
  • ECG (echocardiogram)
  • Echo-Doppler
  • Transesophageal echocardiogram (TEE)
  • Nuclear imaging tests
  • Cardiac catheterization
  • Electrophysiologic study (EPS)

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.One commonly used operation is called the Fontan procedure.

Some patients may need a permanent pacemaker.

Outlook (Prognosis)

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

Possible Complications

Complications of cyanotic heart disease include:

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

When to Contact a Medical Professional

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 physicians before receiving prescriptions for medications. Women with manic-depressive disorder should consult their physicians 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 of help if there is a family history of genetic disorders associated with congenital heart disease.

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