Hole in the Heart

What is a hole in the heart?

A hole in the heart is one of the most common congenital heart conditions. The medical term is septal defect, referring to a gap in the septum, the wall of tissue that separates the left and right sides of the heart.

In a healthy heart, this wall keeps oxygen-rich blood separate from blood that needs to pass through the lungs. When a hole exists, blood can flow between the two sides in ways it should not, which may affect how efficiently the heart works.

There are two main types. An atrial septal defect sits in the upper chambers, while a ventricular septal defect affects the lower chambers. Both develop before birth.

During pregnancy, openings in the septum called the foramen ovale and ductus arteriosus are normal and necessary. They allow blood to bypass the lungs, which the baby does not yet use for breathing. After birth, these openings typically close on their own within the first few weeks or months. In some cases, they do not close fully, leaving a small or occasionally larger hole.

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What causes a septal defect?

In most cases, there is no clear reason why the hole remains open. The heart forms very early in pregnancy, and sometimes the development simply does not follow the usual pattern.

Certain factors may increase the likelihood. Rubella infection during pregnancy has been linked to heart defects in babies, though this is now rare in the UK because of the MMR vaccination programme. Toxoplasmosis, an infection sometimes picked up from contact with cat faeces or undercooked meat, is another known risk factor. Both infections are screened for and managed as part of standard UK prenatal care, which has reduced the occurrence of associated heart defects. Maternal diabetes and some medications taken during pregnancy may also play a role.

However, many babies born with a hole in the heart have none of these risk factors. Often, no cause is ever identified. This can be frustrating for parents, but it reflects how complex early heart development is.

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Symptoms and diagnosis

Many people with a small septal defect have no symptoms at all. The hole may be discovered by chance during a scan or examination for something else, sometimes not until adulthood.

When symptoms do occur, they can include:

• Shortness of breath, especially during physical activity
• Feeling unusually tired
• Swelling in the legs, feet or abdomen
• Heart palpitations or an irregular heartbeat
• Frequent chest infections in children

In babies, poor feeding and slow weight gain can sometimes point to a heart problem. A heart murmur, an extra sound heard through a stethoscope, is often the first sign that leads to further investigation.

Diagnosis usually involves an echocardiogram, an ultrasound scan of the heart. Chest X-rays and ECGs may also be used. These tests show the size and location of any hole and how it affects blood flow.

Treatment and outlook

Small holes often cause no problems and may close naturally over time, particularly in young children. Regular monitoring through follow-up appointments is usually all that is needed.

Larger defects, or those causing symptoms, may require treatment. Options include catheter procedures, where a device is threaded through a blood vessel to close the hole, or open heart surgery in more complex cases. The approach depends on the size, type and position of the defect.

Many people who have a septal defect repaired go on to live active lives, though outcomes vary depending on individual circumstances. Those who have had treatment may need periodic check-ups and should discuss any recommended lifestyle adjustments with their cardiologist. For those with untreated larger holes, there can be a higher risk of complications in later life, including pulmonary hypertension or heart rhythm problems.

If you or your child has been diagnosed with a hole in the heart, your GP or cardiologist can explain what monitoring or treatment may be appropriate. The British Heart Foundation offers information and support for anyone affected by congenital heart conditions.

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