Cyanotic heart disease : Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

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

Diagnosis & 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


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.

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