Congenital heart disease

What is congenital heart disease?

Congenital heart disease (CHD) is a term used to cover any problems with the heart that are present at birth. CHD is the most common group of congenital disorders.

CHD can include problems with the:

• heart itself
• heart valves
• major blood vessels leading to or from the heart

Congenital heart disease can change the flow of blood and the way your heart works.

It's possible to have more than one problem in the same heart. Heart problems can occur together with other health problems.

CHD can range from simple to complex.

CHD is also sometimes called:

• childhood heart disease
• congenital heart conditions
• congenital heart defects
• congenital cardiac defects

Globally, about 9 in every 1,000 babies are born with CHD.

What are the main types of congenital heart disease?

There are many types of congenital heart disease. The main ones are listed below:

• Aortic coarctation — narrowing of the aorta.
• Aortic stenosis — a problem with the aortic valve where it is blocked or narrowed, which means blood flow out of the heart is reduced.
• Atrial septal defect (hole in the heart) — a hole in the wall between the right and left atria.
• Hypoplastic left heart syndrome — the left ventricle is too small to work properly.
• Patent ductus arteriosus — the connection between the aorta and pulmonary artery doesn't close after birth.
• Pulmonary atresia — there is no pulmonary valve and no blood flow to the pulmonary artery.
• Transposition of great vessels — the aorta and pulmonary artery are in the wrong positions.
• Ventricular septal defect (hole in the heart) — a hole in the wall between the right and left ventricles.

The Tetralogy of Fallot is a rare condition where there are four different heart problems at once:

• ventricular septal defect
• pulmonary valve stenosis — a narrowing of the pulmonary valve
• an enlarged aorta
• right ventricular hypertrophy — thickening of the muscle wall

What are the symptoms of congenital heart disease?

Your doctor may suspect CHD in your baby if they:

• have blue lips, fingers or toes (cyanosis)
• are breathless or having trouble breathing
• had a low birth weight
• have difficulty feeding or gaining weight
• their legs, tummy or around the eyes is swollen
• have a heart murmur that the doctor can hear

In older children, the symptoms of congenital heart disease include:

• being very tired
• shortness of breath during exercise
• fainting during exercise
• swelling in the hands, ankles or feet

Sometimes congenital heart disease does not cause any symptoms until your child is a teenager or adult.

What causes congenital heart disease?

CHD is caused by a mix of environmental and genetic factors. Only 1 in 3 babies born with CHD have a known change to their genes or chromosomes.

Down syndrome is an example of a genetic syndrome associated with heart problems.

Any family history of congenital heart disease can mean it's more likely to happen with your baby too.

If the pregnant mother had certain problems during pregnancy it can increase the chance of CHD:

• Rubella
• Pre-eclampsia
• Poorly controlled diabetes
• Misuse of alcohol, illicit drugs or medicines

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. It's important to take care with medicines during pregnancy.

How is congenital heart disease diagnosed during pregnancy?

Some cases of congenital heart disease can be found during pregnancy. During your second-trimester ultrasound, your doctor will look for signs of heart problems.

If they suspect CHD, your doctor will arrange a foetal echocardiogram (an ultrasound of your baby's heart). This will help diagnose the exact problem before your baby is born.

A foetal echocardiogram may also be organised if you have a family history of CHD.

How is congenital heart disease diagnosed after birth?

Most cases of CHD are found soon after birth.

If you doctor suspects your baby has CHD they may organise tests, such as:

• cardiac catheterisation — measures blood pressure and flow
• a chest x-ray
• an echocardiogram — an ultrasound of the heart
• an ECG — shows how the heart's electrical system is working
• an MRI scan — to take pictures of the heart and measure heart function
• pulse oximetry — measures oxygen levels in the blood

For babies with mild forms of CHD, they may only be diagnosed when they're older.

How is congenital heart disease treated?

Treatment which can reduce the impact of CHD is available for most heart problems.

Managing congenital heart disease during pregnancy?

If your baby is diagnosed with congenital heart disease during pregnancy, your doctor may refer you to a foetal cardiologist (specialist).

Finding your baby's heart problem early allows your health team to prepare for your baby's birth. They can also plan for your baby's treatment.

Managing congenital heart disease after your baby is born?

Management of congenital heart disease after birth depends on the type and severity of the problem.

After your baby is born their health will be closely monitored. They may be connected to a pulse oximetry device, which measures blood oxygen levels.

Your baby may need medicines either straight after birth, or when they're older.

Some babies may need cardiac catheterisation. This is where a thin flexible tube is put into an artery in the leg. It's 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
• closing a hole

If your baby has a complex heart condition, they may need surgery. This often occurs before their first birthday.

Avoiding the complications of congenital heart disease

Children with CHD have an increased chance of having other problems:

• developmental problems — they may take longer to start walking or talking
• learning difficulties — such as memory, concentration and language problems
• pulmonary hypertension — high blood pressure in the arteries connecting the heart and lungs
• respiratory tract infections (chest infection) — infections of the lungs and airways

Babies with complex CHD have an increased chance of problems with their brain development.

Children with CHD also have an increased chance of having problems with their heart and blood, such as:

• arrhythmias (heart rhythm problems)
• blood clots — this can lead to pulmonary embolism or stroke
• endocarditis — an infection of the lining of the heart, the heart valves, or both
• heart failure — the heart can't pump enough blood around their body to meet its needs
• sudden cardiac death — this is uncommon

Can congenital heart disease be prevented?

There is no evidence for things you can do to prevent congenital heart disease.

However, there are some things that you can do to reduce your chance of having a baby with congenital anomalies or birth differences. Before pregnancy:

• take folic acid to help prevent neural tube defects
• include an iodine supplement to support thyroid function
• avoid alcohol and smoking or vaping
• have a healthy diet
• maintain a healthy weight
• if you have diabetes, make sure that it's well managed
• get vaccinated against rubella and chickenpox if you're not immune

If you are planning a pregnancy and are already taking medicines for existing conditions, discuss this with your doctor.

Find out more about planning for your pregnancy.

During pregnancy continue to:

• take folic acid and iodine
• avoid alcohol and smoking or vaping
• have a healthy diet
• maintain a healthy weight
• get vaccinated against the flu
• if you have diabetes, make sure that it's well managed

You can also:

• limit your exposure to environmental hazards
• check that any medicines you take are safe in pregnancy
• don't travel to areas with outbreaks of infections that can cause congenital disorders

Resources and support

Your doctor or midwife will give you information about CHD. They will also explain what treatment your baby will need.

To read more about your child's condition, visit the Royal Children's Hospital Melbourne website. They have information on specific heart conditions, and how each condition is managed.

HeartKids provides support for people with congenital heart disease. You can call their helpline on 1800 432 785.

Find out more about other congenital disorders.