Tests for heart disease

Heart disease is a general term for conditions that affect how your heart works. This includes coronary artery disease, heart failure and heart attack.

In the early stages of heart disease, you may not have any symptoms. Tests can help assess your risk of developing atherosclerosis, which is a build-up of fatty deposits called plaque in your artery walls. Atherosclerosis can lead to heart disease and stroke, together known as cardiovascular disease (CVD).

Knowing your risk can help you take steps to lower it and protect your heart. Risk factors for CVD include high cholesterol, high blood pressure, diabetes, obesity, smoking and drinking too much alcohol.

Regular cardiovascular disease risk assessment is recommended from the age of 45 for most people, from age 35 for people with diabetes, and from age 30 for Aboriginal and Torres Strait Islander people.

Your doctor will use the Australian Cardiovascular Disease risk calculator: https://www.cvdcheck.org.au/calculator to estimate your risk.

This considers the results of tests such as cholesterol and other blood fats (lipids), together with factors such as your age, blood pressure, smoking status and other health information.
Heart disease risk assessment tests

• Lipid panel: this is a group of blood tests that measures different types of cholesterol and includes LDL (low-density lipoprotein) cholesterol, HDL (high-density lipoprotein cholesterol), and non‑HDL cholesterol, together with another form of fat, called triglycerides.
• ApoB is a protein found on LDL particles and other particles that carry fats in the blood. Each of these particles contains one ApoB protein, so measuring ApoB shows how many potentially harmful cholesterol-carrying particles are in your blood.
• Lipoprotein(a) or Lp(a) is a type of low-density lipoprotein. Higher levels of Lp(a) in the blood are a risk factor for the buildup of plaque in arteries. Lp(a) levels are mainly inherited and determined by your genes, rather than your diet or lifestyle. Levels generally remain stable throughout life, so testing is usually only needed once.
• ApoA‑1 protein is found in high-density lipoprotein but is rarely requested because it provides little extra information beyond the measurement of HDL. ApoA‑1 testing is mostly used in rare inherited HDL disorders and for research.
• Glucose and HbA1c are used to diagnose and monitor diabetes. Diabetes increases your risk of CVD.
• Kidney function tests: reduced kidney function and kidney damage are strongly associated with a higher risk of heart disease and stroke. Tests, including the eGFR and urine albumin-creatinine ratio, are used to assess your kidney function.
• High-sensitivity C-reactive protein (hs-CRP) measures very low levels of C-reactive protein, a marker of inflammation. A persistently raised hs-CRP is associated with an increased risk of heart disease, but it is not specific for heart disease and can be raised for many other reasons.

Blood clotting tests

• PT/INR and D‑dimer: PT/INR is a test used to monitor warfarin treatment if you are on this anticoagulant medication. D-dimer is a test used when a blood clot is suspected. These are not strictly heart disease tests but may be needed in situations linked to heart disease.

Genetic tests for inherited heart conditions
Some heart conditions run in families and are caused by changes in certain genes. Genetic testing can help identify these changes and guide treatment. Testing is recommended when there is a strong family history of a heart condition with an early‑onset or a sudden cardiac event. When a genetic change has been identified in a person with heart disease, family members can then be screened for the gene change.
Some genetic tests for heart disease

• Familial hypercholesterolaemia (FH) – causes very high LDL cholesterol and greatly increases the risk of early coronary artery disease.
• APOE genotyping- Inheriting a form of the APOE gene called APOE ε4 is associated with an increased risk of CVD. This test can be used to identify APOE ε4. However, the links are unclear. Many people who carry APOE ε4 never develop CVD, while many people who develop CVD do not carry APOE ε4.
• Factor V Leiden & PT 20210 – these are inherited gene variants that increase the tendency for blood to clot. Factor V is a protein that helps your blood clot. In Factor V Leiden, an inherited change means that your blood is more likely to form clots. The PT 20210 variant increases production of prothrombin, a protein involved in blood clotting.
• Cardiomyopathies (heart muscle disorders) - These are among the most common inherited heart diseases. Genetic tests for changes in genes that affect heart muscle structure and function, including those linked to hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM/ARVC).
• Inherited arrhythmia syndromes- these conditions affect the electric signals that control the heart rhythm such as long QT syndrome (LQTS), Brugada syndrome, CPVT and Short QT syndrome.
• Thoracic aortic aneurysm and dissection (TAAD) - The aorta is the main artery leaving the heart. Inherited conditions can weaken the walls of the aorta, increasing the risk of aortic aneurysm (enlargement) or dissection (tear in the aortic wall).
• Sudden unexplained death - when a family member dies suddenly without a clear cause, genetic testing may can look for changes in genes associated with cardiomyopathy, arrhythmia and aortic aneurysm and dissection.

Heart failure

Heart failure occurs when the heart is unable to pump blood around the body as well as it should. It is usually the result of long-term damage or strain on the heart rather than a single sudden event. This can cause symptoms such as shortness of breath, tiredness and swelling in the legs and ankles. Acute heart failure is when there is a worsening of heart failure symptoms, and these can start suddenly.

• BNP / NT‑proBNP: these are the main blood tests used when heart failure is suspected. These substances are released into the blood when the heart is under increased pressure or strain. A low BNP or NT-proBNP result makes heart failure less likely. Your age, kidney function and obesity all can affect the results.

Heart attack

If you go to an emergency department with symptoms that could be caused by a heart attack, such as a sudden chest pressure or pain that may spread to the arm, neck or jaw, along with shortness of breath, nausea, cold sweat or light‑headedness, you will have an ECG and several blood tests. One of these will be to measure a protein called troponin.

Troponin testing is often part of a rapid testing pathway. This is a step-by-step process in which troponin is measured when you arrive and may be measured again after a short period of time. The results are considered together with your ECG and symptoms to help quickly rule out or diagnose a heart attack.

• Troponin I and T: Troponin I and troponin T are proteins found in heart muscle cells. When these cells are damaged, troponin is released into the blood. A laboratory will measure either troponin I or troponin T but not both. 

Other (non-laboratory) tests for heart disease

Blood Pressure Measurement
Hypertension is a major risk factor. 24‑hour ambulatory blood pressure monitoring (ABPM) provides a more accurate assessment than clinic readings.

Coronary Calcium Score
A CT scan measuring calcium in coronary arteries. Useful for refining risk in people aged 45+ with intermediate risk.

CT Coronary Angiogram (CTCA)
A non‑invasive scan that visualises coronary artery narrowing and plaque.

Stress Testing
Includes exercise ECG, stress echocardiography or nuclear perfusion scans to assess how the heart performs under exertion.

Cardiac MRI
Provides detailed images of heart muscle, inflammation, scarring and cardiomyopathies.

Lifestyle and Metabolic Risk Assessment 
Part of routine cardiovascular risk evaluation:

• Waist circumference
• BMI
• Smoking status
• Alcohol intake
• Physical activity patterns

These factors influence the overall risk score and guide prevention strategies.