April 13, 2024

Genes, genetic tests and heart problems

Consumer Information and Resources

Key Takeaways
  • An inherited (or hereditary) condition is one that has been passed down through your parents’ genes.

  • Inherited heart disease is a term that covers a wide variety of relatively rare diseases related to the heart. They are also called hereditary (or genetic) heart diseases.

  • A change (or variant) in one or more genes can cause an inherited heart disease. Sometimes people refer to this as a “faulty gene” or a “mutation”.

  • If you know of early heart attacks and heart problems in your family, talk to your doctor.

  • Your doctor may recommend genetic testing and genetic counseling to confirm a diagnosis of an inherited heart disease or familial hypercholesterolemia. (hereditary condition that can cause high levels of bad cholesterol).

  • Living with hereditary heart disease can be challenging for people and their families. Support is available through genetic counseling and peer support groups, such as the Heart Foundation’s Supporting Young Hearts group.

  • Speak to your doctor for more information about inherited heart disease, genetic testing, specialty clinical genetic services, and support groups.

Hereditary heart diseases are a group of diseases that affect the heart and can be passed down in families.

Types of hereditary heart disease

There are several types of hereditary heart diseases, including hereditary cardiomyopathies, abnormal heart rhythms and other conditions.

Cardiomyopathies are diseases of the heart muscle that affect its function, size or shape. Some cardiomyopathies are hereditary, including:

Abnormal heart rhythms are caused by a failure in the heart’s electrical system that controls its pumping rhythm. Some heart rhythm disorders are hereditary, including:

  • Brugada syndrome – is a rare condition that affects the heart’s electrical system. It can cause fast, irregular heartbeats that can lead to fainting or, in severe cases, cardiac arrest when the heart stops beating.
  • catecholaminergic polymorphic ventricular tachycardia – is a rare disease that can cause irregular and rapid heartbeats. It usually happens when a person is under physical or emotional stress.
  • long QT syndrome – is a disorder that affects the electrical system of the heart. It may cause fast or irregular heartbeats, fainting, or seizures. It can also cause cardiac arrest in some people.
  • and other hereditary abnormal heart rhythms.

Other hereditary conditions and genetic variants that can affect the heart and blood vessels include:

  • congenital heart disease – is a collective term for problems in the structure of the heart that are present from birth. They can affect blood flow to the heart and the rest of the body.
  • familial hypercholesterolemia – is an inherited condition that affects the way the body processes cholesterol. People with familial hypercholesterolemia are at increased risk of heart disease and early heart attack.
  • Marfan syndrome – is a hereditary disease that affects connective tissue. Defective connective tissue can weaken the aorta – the large artery that arises from the heart and supplies blood to the body. The syndrome can also affect the heart valves.
  • sudden arrhythmic death syndrome (SADS) – occurs when a person dies suddenly from cardiac arrest with no obvious known cause. It can affect people under 50 years of age who are fit and healthy. A number of inherited heart conditions can cause SADS.
  • hereditary amyloidosis – is a rare disease that causes abnormal deposits and accumulation of proteins in the body. Some genetic variants can lead to amyloid deposits in the heart.

Symptoms of hereditary heart disease

Some people with hereditary heart disease have no symptoms, while others may experience symptoms such as:

  • dizziness or fainting
  • fainting or fainting
  • palpitations (a feeling of your heart racing, pounding, fluttering, pounding, or skipping beats)
  • shortness of breathe.

Unfortunately, some families only become aware of an inherited heart disease when a family member dies suddenly without an obvious cause. A number of hereditary heart diseases can cause sudden death and therefore it is important to investigate family members after such an event.

Causes of hereditary heart disease

Your body is made up of trillions of cells. Each cell contains information that makes it unique. This information is contained in your genes (sometimes called DNA or chromosomes). Each of us has between 20,000 and 25,000 genes that we inherit from our parents.

Hereditary heart diseases are caused by a change in one or more genes. If one of your parents has a specific gene, there is a chance you will inherit it. This means there is also a chance you could pass it on to your children.

Symptoms of an inherited heart disease can appear at any age, which means some people may not be diagnosed until adulthood. You could also pass the gene on to your children without knowing if or how it might affect them.

Diagnosing hereditary heart disease

If your doctor suspects that you may have an inherited heart disease, he or she will ask questions about your symptoms and your personal information and family history of heart disease. They will also check your blood pressure, pulse, and listen to your heart.

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

  • electrocardiogram (ECG) – records a detailed snapshot of your heart rate and rhythm. You can do this while resting or exercising (for example, on a treadmill).
  • echocardiogram – provides an image of your heart using ultrasound. It helps the doctor check the heart’s valves, chambers, and heart muscle.
  • magnetic resonance imaging (MRI) – creates detailed images of your heart. This test shows your doctor the structure of your heart and how it is working.
  • computed tomography (CT) of the heart – creates 3D images of the heart and its blood vessels
  • electrophysiology studies – examines the electrical activity of the heart. This test helps your doctor find out the type and cause of an abnormal heart rhythm.

Family history and genetic testing

With your doctor or healthcare professional, it is important to draw up a medical family tree. This can help to “paint a picture” to see if you have – or have had – any other family members with the same condition.

Your doctor may also recommend genetic test for:

  • confirm the diagnosis of an inherited heart disease
  • Assess whether you have the same genetic variant as an affected family member.

Genetic testing typically involves taking a blood sample or cheek swab.

Genetic counseling is an important part of genetic testing. It helps ensure you understand the process and the potential risks, limitations, and uncertainties of taking the test. After you have a genetic test, genetic counseling helps you understand the condition and the possible impacts of the results on your health and the health of your family members.

Limitations of genetic testing

• Having a genetic variant does not mean you will definitely develop a heart problem. It also doesn’t tell you when or how you will be affected by the genetic variant.

• People with the same genetic variant can be affected in different ways.

• It is important to remember that genetic tests may not identify all possible genetic variants that could cause health problems in the future.

Knowing that you carry a genetic variant allows your doctor to monitor you closely for any signs of heart disease. Talk to your doctor or contact a clinical genetics service near you for more information about genetic testing.

Treatment for hereditary heart disease

Depending on the type of inherited heart disease you have, there are several treatment options that can help you manage your condition, including:

• take prescription medication

• implantable devices, such as a implantable cardioverter defibrillator (ICD) or pacemaker

surgery to repair or replace damaged valves, blood vessels, or other parts of the heart.

Living with an inherited heart disease

If you have been diagnosed with an inherited heart disease, there are steps you can take to take care of your heart health:

  • quit smoking
  • drinking less alcohol
  • following a heart-healthy eating pattern
  • stay active
  • taking care of your mental health.

Physical activity and sport bring many benefits. However, vigorous levels of exercise may not be suitable for people with some inherited heart conditions. Talk to your doctor or cardiologist about what is best for you.

Family planning considerations

If you have an inherited heart disease or if the disease runs in your family, genetic testing and genetic counseling before and during pregnancy can help you understand your risk of passing a genetic variant to your children. It can also help inform your family planning decisions.

Talk to your doctor to learn more about genetic counseling and genetic testing.

Supporting the Young Hearts program

Our Supporting Young Hearts program provides opportunities for young people to connect, share stories and learn how to manage their heart problems.

Find out more about the Supporting Young Hearts program here.

More information and support

Living with an inherited heart disease can cause feelings of anxiety and stress in some people.

The good news is that 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.

For more information about inherited heart disease, genetic testing and support groups available in Australia, visit:

Join the Heart Disease Genetic Registry

If you or a family member has an inherited heart disease, joining the registry can help people learn more about specific inherited heart conditions to improve diagnosis, prevention and treatment options.

For more information, visit the Australian Genetic Heart Disease Registry website.

What research is the Heart Foundation funding on genes and inherited heart disease?

The Heart Foundation is funding research to improve our understanding, diagnosis and treatment of inherited heart disease.

Dr. Paul Lacaze is studying how protective genetic variants reduce the risk of heart disease among healthy older adults. Read more, here.

Professor Diane Fatkin is investigating how genes play a role in influencing a person’s risk of developing atrial fibrillation (a type of abnormal heart rhythm) and response to treatment. Watch an interview with professor Diane Fatkin explaining her research, here.

Dr. Sonia Shah is exploring the use of genomic data (data from the study of genes and their structure, function and expression) to improve the understanding, prevention and treatment of heart disease. Read more, here.

  1. Semsarian C, English J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Sou Coll Cardiol. 2015;65(12):1249-1254. doi:10.1016/j.jacc.2015.01.019
  2. Wilde AAM, Semsarian C, Márquez MF, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the Status of Genetic Testing for Heart Disease [published correction appears in Europace. 2022 Aug 30;:]. Europe. 2022;24(8):1307-1367. doi:10.1093/europace/euac030
  3. Musunuru K, Hershberger RE, Day SM, et al. Genetic testing for inherited cardiovascular disease: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020;13(4):e000067. doi:10.1161/HCG.0000000000000067

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