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Genetic testing for inherited heart conditions when a cause is known in your family: About this test

Genetic Testing for Inherited Heart Conditions When a Cause is Known in Your Family

About this test

Some heart conditions have genetic causes. These are called inherited heart conditions. Inherited heart conditions can affect children and adults. When a genetic cause for a heart condition is known in your family, genetic testing is available to family members.

If you have been offered genetic testing because of an inherited heart condition in your family, a genetic counsellor will ask you about your health and family history and explore with you the medical and emotional aspects of genetic testing. One of the main benefits of genetic testing is that it can help clarify if you need to have ongoing screening and monitoring for the heart condition.

What is a gene?

Genes are the instructions that tell your body how to grow and function. They are like a recipe for making cookies or the blueprints for a house.

You have 2 copies of almost every gene. One copy comes from the egg and one from the sperm that formed you. There are many genes that are important for heart health.

What causes inherited heart conditions?

Inherited heart conditions happen when someone is born with a difference (called a variant) in a gene that is important in the health of their heart. If a family has an inherited heart condition, they usually have their own specific variant that is causing the heart issues.

When a variant is found in someone with a heart condition, their biological relatives may also have the same variant. A close relative like a parent, sibling, or child has a 50% (or 1 in 2) chance of having the same variant, and a 50% (or 1 in 2) chance of not having the variant.

What type of results could I get?

When a variant is known in your family, biological relatives have the option of genetic testing for that specific variant.

Genetic testing for your family’s specific variant can give 2 types of results:

  • Positive result (pathogenic variant): A positive result means that you have the variant that causes the heart condition. If you test positive for the variant, ongoing monitoring is recommended. Your healthcare team will talk to you about how to manage the heart condition, if you need to change your lifestyle, what precautions you can take, and the benefits of getting early treatment. The genetic test cannot tell you if you will develop symptoms or at what age symptoms may appear. Some people who test positive for the variant do not develop symptoms. If you have a positive result, then genetic counselling and testing are available to your children.
  • Negative result (no variant detected): A negative result means that you do not have the variant that causes the heart condition. If you test negative for the variant, you usually do not need to have ongoing monitoring. In some cases, your healthcare team may suggest some tests to better understand your current health status. If you do not have the variant, you cannot pass it to any children you may have, so your children will not need to get genetic testing for the inherited heart condition.

What should I consider if I am offered genetic testing for an inherited heart condition?

  • Genetic testing is voluntary. This means it is your choice. If you choose not to have genetic testing, your healthcare provider will recommend other types of screening tests based on your medical and family history.
  • People can have many different reactions when they learn about genetic results or health concerns that may develop in the future because of their genetics. Talk to your genetic counsellor about any concerns you may have.
  • Because genetic testing can tell you information about your health, you may have questions about your eligibility for life insurance. There is currently a law in Canada that provides some protection. For example, an application for life insurance should not ask about genetic results. However, the application may ask about medical conditions for you and for your close biological relatives.

What are the limitations to genetic testing?

This type of genetic testing has limitations. In most cases, you are only offered testing for the variant known in your family. A negative result does not rule out all possible heart conditions or health concerns in the future.

How is genetic testing done?

To do a genetic test for inherited heart conditions, a lab will take a sample of blood. There is no cost to you for this test. It may take several months to get the results. Your genetic counsellor will make a plan with you for how you will get the results.

To see this information online and learn more, visit MyHealth.Alberta.ca/health/aftercareinformation/pages/conditions.aspx?hwid=custom.ab_genetictest_ihc_familial_cause_inst.

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Current as of: February 22, 2024

Author: Clinical and Metabolic Genetics Program, Alberta Health Services

This material is not a substitute for the advice of a qualified health professional. This material is intended for general information only and is provided on an "as is", "where is" basis. Although reasonable efforts were made to confirm the accuracy of the information, Alberta Health Services does not make any representation or warranty, express, implied or statutory, as to the accuracy, reliability, completeness, applicability or fitness for a particular purpose of such information. Alberta Health Services expressly disclaims all liability for the use of these materials, and for any claims, actions, demands or suits arising from such use.