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Congenital heart conditions

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Congenital heart conditions

Information and resources for consumers

Key takeaways

2 min read

  • Congenital heart conditions (or congenital heart diseases or defects) are a type of heart condition you are born with.
  • Congenital heart conditions occur when there are problems with the heart’s structure, heart valves, or the blood vessels surrounding the heart. They can vary in severity.
  • Treatment can include medicines, surgery or other heart procedures.
  • Living with a congenital heart condition can be challenging for people and their families. There is support available through peer support groups such as the Heart Foundation’s Supporting Young Hearts group.
  • Speak to your doctor for more information about congenital heart conditions and support groups.

Congenital heart conditions, also known as congenital heart diseases or congenital heart defects, are heart conditions you are born with. It is the most common type of birth defect in Australia, affecting up to one in 100 live-born babies. Many people with congenital heart conditions are living longer and healthier lives due to advances in medical care and treatment of these conditions.

What are congenital heart conditions?

Congenital heart condition is a collective term for problems with the heart’s structure that are present from birth. It occurs when the heart, heart valves or blood vessels near the heart don’t develop normally before birth. This can affect blood flow to the heart and the rest of the body.

Types of congenital heart conditions

There are many different types of congenital heart conditions, which can vary from mild to severe. Some children are born with more than one type of congenital heart condition. 

Some babies are born with an abnormal opening in the wall that separates the right and left chambers of the heart. This allows oxygen-poor and oxygen-rich blood to mix and can mean that not enough oxygen is pumped around the body.

The hole also increases the amount of blood that flows through the lungs. Over time, it can cause damage to the blood vessels in the lungs and increase the risk for complications such as heart failure, high blood pressure in the lungs, abnormal heart rhythms or stroke.

Some septal defects are trivial with no symptoms, so require no medical treatment. Some trivial septal defects will close by themselves as the child grows.

Common septal defects include:

  • Atrial septal defect (ASD) – a hole between the left and right upper chambers (atria) of the heart.

  • Ventricular septal defect (VSD) – a hole between the left and right lower chambers (ventricles) of the heart.

Your heart has four valves that keep blood flowing in the correct direction between its four chambers, and to the body and lungs. Each valve is like a one-way door. When your heart beats the valves open to let blood flow from their chambers and then close to stop the blood flowing backwards.

Defects in heart valves can be when the valve is too narrow (stenosis) or doesn’t develop properly (atresia). When the heart valve cannot open and close properly, the heart has to work much harder to pump blood. Sometimes, faulty valves allow blood to leak backwards, placing an extra load on the heart.

Some heart valve conditions can be present at birth including:

  • Aortic valve stenosis – a narrowing of the aortic valve opening. The narrowed valve cannot open fully, which reduces or blocks blood flow from the heart to the rest of the body.

  • Pulmonary valve stenosis – a narrowing of the pulmonary valve opening. This reduces blood flow from the heart to the lungs.

  • Ebstein’s anomaly – the tricuspid valve doesn’t develop properly. Malformation of the tricuspid valve can cause blood to leak backwards into the right atrium. This makes the right side of the heart work harder and less effectively

Defects in the large blood vessels entering the heart can affect how the heart works. Congenital defects can include when these blood vessels are too narrow, not formed properly or in the wrong position.

Congenital heart conditions arising from blood vessel abnormalities include:

  • Coarctation of the aorta – a narrowing of the aorta. This narrowing reduces blood flow to the rest of the body. It can cause high blood pressure as the heart has to work harder to pump blood through the narrowed part of the aorta. Over time, this weakens the heart muscle.

  • Persistent ductus arteriosus (also known as patent ductus arteriosus) – non-closure of the opening between the aorta and the pulmonary artery. The opening (ductus arteriosus) is a normal part of a baby’s circulatory system that closes shortly after birth. If it remains open after birth, extra blood is pumped into the lungs, forcing the heart and lungs to work harder.

  • Transposition of the great arteries – swapped position of the two main blood vessels leaving the heart (aorta and pulmonary artery). Because the position is swapped, the blood vessels are connected to the wrong chambers. This condition affects the pattern of blood flow through the heart and lungs.

Single ventricle defects are rare disorders where one ventricle does not develop properly.

There are several types of single ventricle defects including:

  • Hypoplastic left heart syndrome (HLHS) – the left side of the heart does not develop properly. It is smaller than normal and cannot pump enough oxygen-rich blood to the rest of the body.

  • Pulmonary atresia – the pulmonary valve does not develop properly and remains closed at birth. Blood can’t flow from the right ventricle to the lungs to pick up oxygen. This condition can be fatal if left untreated.

  • Tricuspid atresia – the tricuspid valve does not develop properly. Blood can’t flow from the right atrium into the right ventricle and then out to the lungs to pick up oxygen. This leads to an underdeveloped right ventricle.

Tetralogy of Fallot is a rare condition made up of the following four defects of the heart and its blood vessels:

  • ventricular septal defect – a hole between the left and right ventricles of the heart

  • pulmonary stenosis – narrowing of the pulmonary valve and main pulmonary artery

  • right ventricular hypertrophy – the muscular wall of the right ventricle is thicker than normal

  • overriding aorta – the aorta sits over the left and right ventricles instead of just the left ventricle.

These defects cause oxygen-rich and oxygen-poor blood to mix, which reduces the overall level of oxygen in the blood. Babies with untreated tetralogy of Fallot can have a bluish-looking skin colour because their blood does not carry enough oxygen.

Symptoms of congenital heart conditions

The symptoms of congenital heart conditions can vary depending on the type and severity of the condition. Some people with congenital heart conditions do not experience any symptoms.

In serious cases of congenital heart conditions, symptoms are noticeable immediately after birth or during the first few months of life. Symptoms may include:

  • a blue tinge to the skin, lips or fingernails (also known as cyanosis)

  • irregular or rapid breathing

  • swelling in the legs, hands, belly or around the eyes

  • shortness of breath during feeding leading to poor weight gain.

Congenital heart conditions that are less serious may not be diagnosed until later in life. Symptoms may include:

  • extreme fatigue and shortness of breath during exercise

  • fainting during exercise

  • swelling in the hands, ankles or feet.

Causes of congenital heart conditions

In most cases, there is no known cause for congenital heart conditions. However, some things are known to increase the chances of having the condition, including:

  • certain genetic conditions such as Down’s syndrome and Turner syndrome

  • family history of congenital heart conditions

  • the mother having certain infections, such as rubella, during pregnancy

  • the mother having poorly managed type 1 diabetes or type 2 diabetes

  • the mother taking certain medicines during pregnancy

  • smoking, alcohol or recreational drug use during pregnancy

  • the mother’s age.

Diagnosing congenital heart conditions

Some congenital heart conditions can be diagnosed when the mother has an ultrasound scan during pregnancy. However, sometimes they are not found until after the baby has been born and displays signs or symptoms of the congenital heart condition. Other congenital heart conditions may not be diagnosed until the child is older or even an adult.

If your doctor suspects you or your child may have a congenital heart condition, they will review your signs and symptoms, medical history, family history of heart conditions and conduct a physical examination.

Your doctor may also arrange for one or more of the following tests:

  • Electrocardiogram (ECG) – records a detailed snapshot of your heart rate and rhythm. You may have this done while you are resting or exercising (for example, on a treadmill).

  • Echocardiogram – gives a picture of your heart using ultrasound. It helps your doctor check your heart’s valves, chambers, and heart muscle.

  • Chest x-ray – produces an image that shows the location, size and shape of the lungs, heart and major blood vessels.

  • Magnetic resonance imaging (MRI) – creates detailed images of your heart. This test shows your doctor the structure of your heart and how well it is working.

  • Pulse oximetry – measures the amount of oxygen in the blood.

  • Cardiac catheterisation – another way of obtaining images to define any abnormalities in the structure or function of the heart.  The pressure and oxygen levels in various parts of the heart are measured to check how well your heart muscles and valves are working.

Treatment for congenital heart conditions

The treatments for congenital heart conditions vary depending on the type of condition. Some congenital heart conditions do not need any treatment. Mild defects, such as small holes in the heart, often may not require treatment, as they may correct themselves as the child ages.

However, other defects that are life-threatening require treatment as soon as they are diagnosed. Treatment options include:

  • medicines to relieve symptoms or improve how the heart works

  • cardiac catheterisation where a long, thin tube (catheter) is threaded through the blood vessels into the heart and tiny instruments or implants are used to repair the defect

  • surgery and other procedures to repair or replace damaged valves, blood vessels or other parts of your heart.

Living with a congenital heart condition

Medical advances are now allowing people with heart disease to live long and healthy lives. However, depending on the type and severity of their condition, people with a congenital heart condition may require life-long care from a cardiologist. Some things you can do to help improve the symptoms of congenital heart disease are:

Considerations for family planning

Pregnancy makes the heart work a lot harder which can cause problems for women with congenital heart conditions. Many women with congenital heart conditions can have a healthy pregnancy. However, it requires careful planning and discussion with your cardiologist.

You should also speak to your doctor if you are considering becoming pregnant so that they can help you plan ahead to ensure the safety of you and your baby.

Supporting Young Hearts program

Our Supporting Young Hearts program provides opportunities for young people to connect with each other, share stories and learn about how to manage their heart condition.

Find out more about the Supporting Young Hearts program here.

Further information and support

If you’ve been diagnosed with a congenital heart condition, it's normal to experience a range of emotions such as fear, uncertainty, anxiety and low mood.

The good news is there are resources available to support you in managing your condition. If you are worried about your thoughts or how you are feeling, talk to your doctor and seek support from your loved ones. Staying connected with people in your community can also help to strengthen your mental health and wellbeing. For more information on congenital heart conditions and support groups available in Australia, visit:

Join the congenital heart disease registry

If you or a family member have a congenital heart condition, joining the registry can help people learn more about the experiences and needs of people with congenital heart conditions to improve diagnosis, prevention and treatment options.

For more information, visit the Congenital Heart Alliance of Australia and New Zealand Congenital Heart Disease Registry website.

What research is the Heart Foundation funding on congenital heart conditions?

The Heart Foundation is funding research to enhance our understanding, diagnosis and management of congenital heart conditions. Some projects that we have funded include:

  • Dr Gonzalo del Monte Nieto’s investigation of how the heart develops to better understand what causes congenital heart conditions. Find out more here.

  • Associate Professor Eleni Giannoulatou’s research on identifying genes causing congenital heart conditions. Find out more here.

  • Australian Institute of Health and Welfare. Congenital heart disease in Australia. 2019. Accessed 10 May 2023.
  • Healthdirect. Congenital heart disease. 2021. Accessed 10 May 2023.
  • Victor Chang Cardiac Research Institute. Congenital heart disease. n.d. Accessed 10 May 2023.

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Last updated05 February 2024