Health encyclopaedia

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Diagnosis of Congenital heart disease

It is possible for heart defects in children to be diagnosed before birth. Around 1 in 4 are detected during routine ultrasound scans, often at 18 to 20 weeks. However, most heart conditions are diagnosed after birth.

If your GP suspects a heart condition they will check your child’s height and weight, as well as the colour of their lips, tongue and fingers. They will also check for heart murmurs and arrange further tests to diagnose the exact condition, if necessary.

The tests, called cardiac investigations, are carried out by a paediatrician (a doctor who specialises in children’s illnesses), or a paediatric cardiologist (a children’s heart specialist).
The tests could include:

• an electrocardiogram – this is painless procedure where sticky patches are put on the child’s arms and legs and then connected a machine that records heart rhythm for any irregularities,
• a chest X-ray – this shows the size and position of the heart and how air expands in the lungs,· an echocardiogram – a painless probe is placed on the chest, abdomen and neck and shows the structure of the heart and how it is working,
• MRI (magnetic resonance imaging) scanning – this is a type of scan that is carried out while the child is lying in a short tunnel. It gives a detailed picture of the internal organs of the body,
• cardiac catheterisation – for this a tube is inserted through the groin and guided through to the heart. A special dye that shows up under X-ray is injected through the tube, and an X-ray is taken to see how the blood runs through the heart. This test can involve a few days in hospital.

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