Congenital heart disease

What is congenital heart disease?

Congenital heart disease is a general term for any defect of the heart, heart valves or central blood vessels that is present at birth.

It can take many forms, such as holes between the pumping chambers of the heart, valves that do not open or close properly and narrowing of major blood vessels such as the aorta and pulmonary artery. Congenital heart disease can range from simple to complex, and more than 1 anomaly can occur in the same heart.

Diagnosis usually occurs within the first month of life. Common symptoms include bluish lips, fingers and toes, breathlessness or trouble breathing, low birth weight, difficulty feeding and gaining weight, and chest pain.

Most congenital heart disease is multifactorial and arises through combinations of genetic and environmental factors. Some of the known risk factors include a family history of congenital heart disease, maternal illnesses such as rubella (German measles), misuse of alcohol, illicit drugs and medications, and maternal health factors such as preeclampsia and poorly controlled diabetes.

How many Australians have congenital heart disease?

  • National rates of congenital heart disease are not routinely reported. Globally, an estimated 9.4 in every 1,000 live births were affected by congenital heart disease during the period 2010–2017 (Liu et al. 2019).

  • In Australia, an estimated 65,000 children and adults live with congenital heart disease (Department of Health 2019).
  • A number of Australian jurisdictions publish their incidence of congenital heart disease, noting that data collection methods vary (AIHW 2019). Ventricular septal defect was the most commonly reported congenital heart disease, followed by atrial septal defect and patent ductus arteriosus.

Main types of congenital heart disease

Ventricular septal defect—a hole in the muscle wall between the right and left ventricles.

Atrial septal defect—a hole in the muscle wall between the right and left atria.

Patent ductus arteriosus—where the ductus arteriosus, the connection between the aorta and pulmonary artery, fails to close after birth.

Tetralogy of Fallot—a condition that consists of 4 heart anomalies: ventricular septal defect, a narrowing of the outflow tract into the pulmonary artery, an enlarged aorta and thickening of the muscle wall of the right ventricle.

Transposition of great vessels—a condition that is usually characterised by the aorta arising from the right ventricle and the pulmonary artery from the left ventricle.

Coarctation of the aorta—narrowing of the aorta.

Aortic stenosis—obstruction of the aorta. This can be due to a narrowing of the aorta or a problem with the aortic valve.

Hypoplastic left heart syndrome—where the left ventricle is small and functionally inadequate.

Pulmonary atresia—a condition in which there is no pulmonary valve and no blood flow to the pulmonary artery.

Hospitalisations

In 2018–19, there were around 5,600 hospitalisations in Australia where congenital heart disease was the principal diagnosis—a rate of 22 hospitalisations per 100,000 population.

Age and sex

In 2018–19, where congenital heart disease was recorded as the principal diagnosis, hospitalisation rates:

  • were similar for males and females (age-standardised rates of 23 and 22 hospitalisations per 100,000 population)
  • were highest for infant boys and girls (601 and 467 per 100,000 population), followed by boys and girls aged 1–4 (45 and 50 per 100,000 population)

Unlike many other cardiovascular conditions, the number and rate of hospitalisation for congenital heart disease declines with age (Figure 1).

Figure 1: Congenital heart disease hospitalisation rates, principal diagnosis, by age and sex, 2018–19

The bar chart shows in 2018–19 congenital heart disease hospitalisation rates were highest among boys and girls aged less than 1, at 600 and 470 per 100,000 population, respectively.

Adults with congenital heart disease

Advances in paediatric cardiac care mean that people with congenital heart disease are now living longer, and the burden of disease is shifting from early childhood into the adult population (Celemajer et al. 2016).

Patients with complex and severe congenital heart disease will continue to require specialist treatment throughout their life. Often, they also require management of other health and welfare issues, including for family planning and pregnancy, lifestyle choices, dietary strategies, work choices and physical limitations.

In 2011, it was estimated that there were between 26,000 and 32,000 adults with congenital heart disease in Australia, with an annual increase of around 5% (Leggatt 2011).

Trends

Between 2000–01 and 2018–19 the number of hospitalisations with congenital heart disease as a principal diagnosis increased from 4,000 to 5,600.

Over this period the age-standardised hospitalisation rate for congenital heart disease has changed little (21 per 100,000 in 2000–01 and 23 in 2018–19). The male rate has been slightly higher than the female rate in recent years (Figure 2).

Figure 2: Congenital heart disease hospitalisation rates, principal diagnosis, by sex, 2000–01 to 2018–19

The line chart shows age-standardised congenital heart disease hospitalisation rates remained relatively stable between 2000–01 and 2018–19 with males recording 20–24 and females recording 19–23 hospitalisations per 100,000 population across the period.

Variation among population groups

Aboriginal and Torres Strait Islander people

In 2018–19, there were around 280 hospitalisations with a principal diagnosis of congenital heart disease among Aboriginal and Torres Strait Islander people.

After adjusting for differences in the age structure of the populations:

  • the rate among Indigenous Australians was similar to the non-Indigenous rate (25 and 22 per 100,000 population)
  • the female Indigenous rate was slightly higher than the female non-Indigenous rate (26 and 21 per 100,000 population) (Figure 3).

Socioeconomic group

In 2018–19, the congenital heart disease hospitalisation rate was 1.2 times as high for people living in the lowest socioeconomic areas compared with those in the highest socioeconomic areas—age-standardised rates of 24 and 20 per 100,000 population.

The difference was greater for females (1.4 times as high), with male rates being similar (Figure 3).

Remoteness area

In 2018–19, congenital heart disease hospitalisation rates were slightly higher among those living in Remote and very remote areas compared with those in Major cities (age-standardised rates of 25 and 22 hospitalisations per 100,000 population).

The difference was largely driven by disparities in female rates (28 and 21 per 100,000 population), with male rates being similar (23 per 100,000 population) (Figure 3).

Figure 3: Congenital heart disease hospitalisation rates, principal diagnosis, by socioeconomic group and sex, 2018–19

The horizontal bar chart shows that variation in age-standardised congenital heart disease hospitalisation rates among population groups was largely driven by higher rates among females. Rates were higher among Indigenous females than non-Indigenous females and females living in the lowest socioeconomic areas and Remote and very remote areas. 

Procedures

About half of all babies born with congenital heart disease require surgical or catheter-based interventions to correct any defect, with one-third needing these interventions in the first year of life (Blue et al. 2012; Leggatt 2011).

Where congenital heart disease was the principal and/or additional diagnosis, there were almost 2,200 surgical procedures conducted in Australian hospitals for closure of an atrial septal defect in 2018–19, around 470 for closure of ventricular septal defect and 600 for closure of patent ductus arteriosus:

  • procedure rates for infants aged under 1 year were 100 per 100,000 for closure of atrial septal defect, 104 per 100,000 for ventricular septal defect and 108 per 100,000 for patent ductus arteriosus in 2018–19
  • most procedures for patent ductus arteriosus and ventricular septal defect were among children aged under 5 (74% and 82%)
  • procedures for atrial septal defect were spread more evenly across ages, with 20% among children aged under 5 years, and 53% among adults aged 45 and over
  • trends in procedure rates have changed little over the last decade—for atrial septal defect (6.2 and 8.5 per 100,000 in 2007–08 and 2018–19), ventricular septal defect (2.1 and 1.9 per 100,000 in 2007–08 and 2018–19) and patent ductus arteriosus (2.8 and 2.5 per 100,000 in 2007–08 and 2018–19).

Diagnostic and treatment options for congenital heart disease

Echocardiography—an ultrasound of the heart. This test is non-invasive and can be conducted before birth.

Pulse oximetry—a non-invasive test that measures the oxygen levels in the blood to see how efficiently the heart is pumping oxygen to the rest of the body.

Medications—often used for mild congenital heart defects, especially those found later in childhood or in adulthood. Medications can help the heart work more efficiently by lowering blood pressure, regulating the heartbeat or lowering the amount of fluid in the chest.

Cardiac catheterisation—a thin flexible tube is inserted into an artery in the leg and moved towards the heart to measure blood pressure and flow. Sometimes used in conjunction with imaging procedures including contrast studies and X-ray. Also a form of treatment to stretch narrowed vessels and valves, implant stents or close a hole.

Corrective surgery—usually reserved for more complex congenital heart conditions. There are many different procedures. Surgery is often undertaken in the first year of life.

Heart transplant—total replacement of the heart muscle.

Compassionate care—an alternative to surgery, often using palliation and other forms of end-of-life care.

Deaths

In 2019, congenital heart disease was the underlying cause of 174 deaths (0.1% of all deaths) in Australia.

Congenital heart disease is a leading cause of death among infants. In 2019, congenital heart disease caused 74 deaths in infants aged under 1 year, equivalent to 7.4% of all infant deaths.

Age and sex

In 2019, 100 males and 74 females died as a result of congenital heart disease, equivalent to age-standardised rates of 0.8 and 0.6 per 100,000 population (Figure 4). Of these:

  • 43% were aged 1 year or under (44 boys and 30 girls)
  • 16% were aged 1–24 (15 males and 12 females)
  • 25% were aged 25–64 (28 males and 16 females)
  • 17% were aged 65 or over (13 males and 16 females).

Figure 4: Congenital heart disease death rates, by age and sex, 2019

The bar chart shows in 2019 congenital heart disease death rates were highest among boys and girls aged less than 1, at 28 and 20 deaths per 100,000 population, respectively.

Trends

Both the number and rate of congenital heart disease deaths declined between 1980 and 2019:

  • the number of congenital heart disease deaths declined by 37%, from 277 to 174
  • the age-standardised congenital heart disease death rate declined by almost two-thirds, falling from 1.9 to 0.7 deaths per 100,000 population. Congenital heart disease death rates declined in a similar fashion for males and females (Figure 5).

In 1987, 71% of congenital heart disease deaths occurred in children aged under 5 years. By 1997, this figure had fallen to 55%, falling further to 50% in 2007 and to 45% in 2019.

Fewer deaths as a result of treatment improvements and an increase in the number of terminations of pregnancies after antenatal diagnosis have been suggested as factors that have contributed to the decrease in mortality rates (Leggatt 2011).

Figure 5: Congenital heart disease death rates, by sex, 1980–2019

The line chart shows age-standardised congenital heart disease death rates declined between 1980 and 2019, from 2.1 to 0.8 and 1.6 to 0.6 per 100,000 population for males and females, respectively.

Variation among population groups

Aboriginal and Torres Strait Islander people

In 2017–2019, there were 22 deaths from congenital heart disease among Aboriginal and Torres Strait Islander people in jurisdictions with adequate identification of Indigenous status.

After adjusting for differences in the age structure of the populations, the congenital heart disease death rate for Indigenous people was similar to that for non-Indigenous people (both 0.7 deaths per 100,000 population) (Figure 6).

Socioeconomic group

In 2017–2019, the age-standardised congenital heart disease death rate in the lowest socioeconomic areas (0.8 per 100,000 population) was higher than in the highest socioeconomic areas (0.4 per 100,000 population) (Figure 6).

Remoteness area

In 2017–2019, the age-standardised congenital heart disease death rates in Remote and very remote areas was 1.5 times as high as in Major cities (0.9 and 0.6 per 100,000 population) (Figure 6).

Figure 6: Congenital heart disease death rates, by population group and sex, 2017–2019

The horizontal bar chart shows in 2017–2019, age-standardised congenital heart disease death rates were similar among Indigenous and non-Indigenous Australians. Rates were slightly higher in the lowest socioeconomic areas, and among people living in Outer regional and Remote and very remote areas.