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Congenital heart disease

8-minute read

Key facts

  • Congenital heart disease (CHD) involves a group of different heart problems that are present at birth.
  • These problems can include abnormalities of the heart itself, the heart valves or major blood vessels leading to or away from the heart.
  • CHD can be caused by a combination of environmental and genetic factors.
  • Some cases of CHD can be seen with an ultrasound during pregnancy.
  • Your baby’s treatment plan will depend on the type and severity of their heart problem.

What is congenital heart disease?

Congenital heart disease (CHD) involves a group of different heart abnormalities that are present at birth. ‘Congenital’ means ‘from birth’ and these health problems may have started from the moment of conception or at any time during pregnancy or during birth. CHD may sometimes be referred to as congenital heart defects or congenital heart differences.

CHD can include problems of the heart itself, the heart valves or major blood vessels leading to or away from the heart. CHD is the most common congenital disorder in newborns. In Australia, there are between 2,400 and 3,000 babies born each year with CHD, which can range from simple to complex. Heart defects can occur alone or together with other health problems, depending on how the heart has developed.

What are the main types of congenital heart disease?

There are many types of congenital heart disease, which can affect the heart in many ways. Here are some examples:

  • A hole in the heart can form in the walls that separate the heart chambers. This hole may allow oxygen-rich blood to mix with oxygen-poor blood.
  • Obstructed blood flow can occur when blood vessels or a heart valve are narrower than normal. When this happens, the heart muscle needs to work harder to pump blood around the body.
  • Abnormal blood vessels can occur when the blood vessels leading to or from the heart are either not positioned correctly or do not form properly.
  • Heart valve abnormalities occur when the heart valves can’t open or close properly, so blood cannot flow around the body easily.
  • An underdeveloped heart occurs when a major part of the heart does not develop properly. When this happens, the heart can’t work as it should.
  • A combination of defects is when a baby has more than one CHD.

For information on specific heart conditions, see the website of the Royal Children’s Hospital in Melbourne.

What are the main causes of congenital heart disease?

CHD can be caused by a combination of environmental and genetic factors. Only 1 in 3 babies born with CHD have a known genetic or chromosomal abnormality. Down syndrome is an example of a genetic syndrome associated with heart problems.

Other factors known to increase the chance of congenital heart problems include a family history of CHD and if you’ve had rubella, pre-eclampsia when you’re less than 32 weeks pregnant or poorly controlled diabetes during your pregnancy.

It’s also important that you take care with certain medicines or drugs during your pregnancy since these may also affect your baby’s chance of having CHD. While you’re pregnant, it’s best to avoid alcohol or illegal drugs, and to check with your doctor or pharmacist before you take any over-the-counter or prescription medicines. Make sure you tell your health provider that you’re pregnant when seeking advice.

Can congenital heart disease be prevented?

Congenital heart disease cannot always be prevented, but there are many things that you can do to reduce your overall risk of having a baby with birth defects.

Be sure that you are up to date with all your scheduled vaccinations, including rubella, since infection during pregnancy can cause heart defects in your baby. Make sure that you are managing any chronic medical conditions, like diabetes and high blood pressure properly.

Avoid substances that may be harmful to your baby like alcohol, smoking and strong cleaning products (check the labels before using these). If you are planning a pregnancy and are already taking medications for existing conditions, discuss this with your doctor.

Can congenital heart disease be detected during pregnancy?

Some cases of congenital heart disease can be detected during pregnancy. During your second-trimester ultrasound, your doctor will look for signs of heart problems. If they suspect CHD, your doctor will order a foetal echocardiogram (an ultrasound of your baby’s heart) to help diagnose the exact problem before your baby’s birth.

Other cases of CHD might only be detected after the baby is born, such as if the baby has blueish skin (a sign of CHD).

Some people, especially those with mild forms of CHD, may only be diagnosed as older children, teenagers or adults.

If you doctor has a reason to suspect CHD after birth, they doctor will examine your baby and may order several different tests including an echocardiogram, ECG, chest x-ray, pulse oximetry (used to determine the oxygen level in the blood) and cardiac catheterisation.

How is my care managed during pregnancy and birth?

If your baby is diagnosed with congenital heart disease during pregnancy, your doctor will refer you to a specialist. Early detection of your baby’s heart problem allows your health team to prepare for your baby’s birth and plan for your baby’s treatment. Your doctor will also recommend the best place for your baby to be born, so that you can both get the best care in a hospital experienced in looking after babies with CHD.

How is congenital heart disease managed after the baby is born?

Management of congenital heart disease after birth depends on the type and severity. After the birth, your baby’s health will be closely monitored and they may be connected to a pulse oximetry device, which measures blood oxygen levels. Your baby may need certain medicines either immediately after birth, or when they’re older.

Some babies may need cardiac catheterisation, where a thin flexible tube is inserted into an artery in the leg and then slowly moved towards the heart. This procedure can be used to help diagnose CHD. It can also be used to treat certain heart conditions by stretching a narrow vessel or valve, implanting a stent, or closing a hole. If your baby has a complex heart condition, they may need surgery. This usually occurs before their first birthday.

Resources and support

If your baby has been diagnosed with CHD, your doctor will be able to provide you with detailed information about the nature of your baby’s heart disease, as well as their treatment plan.

To read more about your child’s condition, see the Royal Children’s Hospital Melbourne website or the Heart Kids website. Both websites have information about specific heart conditions, as well as how each condition is usually managed.

Speak to a maternal child health nurse

Call Pregnancy, Birth and Baby to speak to a maternal child health nurse on 1800 882 436 or video call. Available 7am to midnight (AET), 7 days a week.

Learn more here about the development and quality assurance of healthdirect content.

Last reviewed: March 2023

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