Congenital heart disease

In this article

What is congenital heart disease?

The word congenital means existing from birth. Congenital heart disease is used to describe a heart issue that is present from birth. This is a general term and it covers all heart conditions that someone can be born with. 

Congenital heart disease can include issues with the heart valves (‘doors’), blood vessels, holes between the heart chambers (‘rooms’), a reduced number of chambers, or a combination of problems. Congenital heart disease may also present with a slow or fast heartbeat or a problem with the heart rhythm (arrhythmia). Some congenital heart diseases are very minor and others are serious and can be life-threatening. 

Congenital heart disease develops while the baby is growing in the mother’s womb and affects about 1 in 100 babies. It can usually be diagnosed during pregnancy or after the baby is born, however some conditions may not be diagnosed until adulthood.

What are the causes of congenital heart disease?

The exact cause of most heart defects is unknown. Something disrupts the development of the baby’s heart in the early weeks in the womb, as it progresses in its development from a simple tube to a complex organ within the body.

You cannot completely prevent congenital heart disease. However, there are some things that are known to increase the risk of congenital heart disease. These include:

  • contracting rubella (German measles) when you are pregnant – having 2 doses of the MMR vaccine at least one month before you get pregnant can help prevent this
  • getting the flu when you are pregnant – having a flu vaccine can help prevent this
  • having diabetes prior to pregnancy 
  • drinking alcohol when pregnant
  • having phenylketonuria (PKU) – this is a rare genetic condition from birth
  • some types of medicine – it is recommended to not take any medicines when you are pregnant unless they are recommended by your doctor/midwife
  • your baby having a genetic condition such as Down syndrome (Trisomy 21), Noonan syndrome or Turner syndrome
  • having a family history of congenital heart disease.
     

What are the possible complications?

Possible complications of having congenital heart disease include:

  • problems with growth and development
  • frequent respiratory tract infections 
  • infective endocarditis – an infection in the tissue lining of the heart chambers
  • pulmonary hypertension – a type of high blood pressure which affects the arteries in the lungs and the right side of the heart
  • cyanosis – low oxygen saturations which create a dusky blue appearance to the skin
  • fluid build-up – congestion in the chest or fluid build-up in the face or ankles because the heart pumping is less strong
  • abnormal heart rhythms called arrhythmia.
     

Is congenital heart disease genetic?

Genetics are a factor. If either parent has congenital heart disease, then this increases the risk, and the risk is also increased if a sibling has congenital heart disease. The genetics can be complicated however and the risk of inheriting congenital heart disease varies considerably among individuals with different heart conditions and different family histories.

Genetic counselling can be available for those who are at risk of developing a congenital heart disease. Discuss this with your GP.

What are the different types?

There are many different types of congenital heart disease. These are some of the most common.

Holes in the heart (septal defects)

These are some of the most common heart defects. This group includes holes between the heart's top two chambers called the atria. These defects are called atrial septal defects or ASDs.

Holes can also occur between the lower chambers called the ventricles. These are known as ventricular septal defects or VSDs.

Some of these holes are small and have very little impact and others are larger and create considerable extra blood flow to the lungs. Some of the holes need open heart surgery to be repaired and others can be closed with catheter (keyhole) procedures.

Another common defect is a patent ductus arteriosus (PDA). All babies have a patent ductus arteriosus before they are born and normally it closes off after birth, but in some infants it stays open and leads to extra blood recirculating around the heart.

Issues with heart valves

There can be problems with the heart valves not being formed properly before birth. Sometimes valves are narrow and don’t open well and sometimes they are leaky (like a drafty door).

Issues with blood vessels

This includes a condition called coarctation of the aorta. It is an abnormal narrowing or ‘pinching in’ along the aorta, the largest artery in the body. The narrowing usually occurs at a particular spot in the upper to mid part of the chest. 

Mixture of heart defects

Babies can be born with a combination of different heart defects. Sometimes these just need an ongoing watch, but others may require surgery or other types of medicine or intervention. Some children with more complex heart issues will need several surgeries to help them survive with a good quality of life.

What are the signs and symptoms?

Some congenital heart diseases will cause signs and symptoms soon after birth and some symptoms may only appear later in life as a child or an adult.

Signs and symptoms may include:

  • a heart murmur – an abnormal heart sound your doctor can hear
  • low oxygen saturation levels detected on a screening exam in a newborn
  • fainting or dizziness during exercise or excessive sweating
  • fast breathing
  • fast heart rate
  • frequent infections – in the nose, throat airway, lungs
  • a blue tinge to the lips, fingernails and skin – due to a lack of oxygen in the blood
  • high blood pressure in younger people
  • shortness of breath and sweatiness when feeding in infants – leading to poor weight gain
  • swelling in the hands, tummy, legs, ankles, feet or around the eyes
  • tiredness in children – they may not be able to keep up with friends.
     

How is the diagnosis made?

During pregnancy

In many cases, congenital heart disease is diagnosed during pregnancy. It may be detected on an ultrasound scan around 18–22 weeks. 

If a possible heart defect is detected you will be referred for further testing. A fetal echocardiogram (ultrasound scan) of the baby’s heart can be performed to give greater clarity.

It is important to realise that not all types of congenital heart disease are apparent before birth.

After birth

Some cases of congenital heart disease may be diagnosed after birth. After a baby is born, they are checked by a midwife or maternity provider.

After a baby is born there may be signs and symptoms of a heart condition, including:

  • a blue look to the lips or skin
  • shortness of breath when feeding
  • swelling in the tummy or around the eyes.

At 6 weeks old a baby should have a 6-week newborn checkup with your GP. The doctor will check the baby’s heart using a stethoscope and listen to the heart. Sometimes a murmur can be detected which may be a sign of a heart condition. 

Other tests that could be included, depending on the heart condition: 

  • Chest X-ray – pictures of the inside of the chest looking at the lungs, heart, and chest wall.
  • Electrocardiograph (ECG) – records the electrical signals in the heart and shows the heart rhythm.
  • Echocardiogram (echo) – ultrasound of the heart showing all the parts and how they are working.
     

How are they treated?

Some congenital heart conditions won’t require treatment as the heart defect is minor or can heal on its own as the child grows.

Other treatments will depend on the type of heart condition. These include:

  • medicines to relieve symptoms or improve how the heart works. These are sometimes used to help stabilise the heart before surgery, or to prevent blood clots.
  • surgery and/or heart catheter (‘keyhole’ or angiogram-type procedure) to repair or replace damaged blood vessels, valves or other parts of the heart.
     

How can I live well with congenital heart disease?

  • Avoid or minimise alcohol
  • Vaccinations – this helps build immunity to fight diseases. Vaccinations usually start at 6 weeks of age.
  • Good dental care – brush your teeth regularly. Get any dental or gum problems fixed as soon as possible. Bacteria can travel from the mouth into the bloodstream and cause an infection in the heart called infective endocarditis, which can lead to heart valve problems. Some limited groups of people with congenital heart disease need antibiotic cover for dental work (discuss this with your heart care team).
  • Healthy lifestyle – not smoking and eating a healthy diet
  • Exercise – regular exercise is important for us all, but if you have significant congenital heart disease it’s important to discuss exercise with your cardiologist first and to see if particular types of exercise are more beneficial.
  • Long-term monitoring and care – your primary care provider and cardiologist/heart team will advise how often you should be seen for check-ups. Ask if you are unsure. Most moderate and severe congenital heart disease needs long-term cardiology clinic follow-up. Make sure to attend all hospital appointments and tests.
  • Medications – aim to take medications as prescribed. Ask questions about your medication if you’re unsure what it is for, how to take it or possible side-effects. 
  • Manage stress – being stressed, anxious or worried for long periods of time can affect your health and quality of life. Many people living with congenital heart disease worry about their health. Talk to your health provider about how to deal with these worries. 
  • Planning for a pregnancy – if you are thinking about having a baby, you should talk to your doctor and cardiologist first. Pregnancy makes the heart work a lot harder, which can cause additional issues if you have a congenital heart disease. It is best to go into pregnancy with good knowledge about your heart condition and a clear plan for any extra care that may be needed to ensure both you and the baby are safe. 
     

Where can I find more information?

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