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