image

Patients and Families

What are Genetics?

Genes are the set of instructions found in all cells in our body that tell our body how to grow, develop, and function. Genes determine blood type, eye color, height, etc.

Genes are made up of DNA. We have two copies of each gene. One copy is from our mother and one copy is from our father. The genes that we focus on are the ones that are responsible for building heart muscle cells and that are part of the heart’s electrical system.

Video by Dr. Zachary Laksman, Laura Halperin, Julie Hathaway, Kirsten Bartels
Narrated by Laura Halperin

How are Genetics and IHRC’s related?

Our genes work to help our bodies grow and function.

When there is an abnormal change in a gene it may cause a disease or increase a person’s risk of developing a genetic disorder. These changes happen due to a spelling mistake in our DNA. This spelling mistake causes the gene to no longer work properly.

Changes in genes that are important for building heart muscle cells and for the heart’s electrical system can sometimes cause IHRCs. These gene changes are often inherited from a parent, but can happen for the first time in a person at the time they were conceived.

Do I need to get Genetic Testing?

Patients who are suspected of having an IHRC should be the first person in the family to have genetic testing. If a genetic change is found, testing other family members may be offered to determine if they are at risk.

Genetic testing is a way to look for changes in a specific set of genes. In the case of IHRCs, genetic testing focuses on the genes that are involved in controlling the heartbeat and building the heart muscle.

All patients and family members wanting genetic testing should speak to a genetic counsellor before proceeding.

Pros + Cons

Genetic testing is a personal decision. It is important that you understand what the test can and cannot tell you. The results may not find the cause for your heart condition. You should also be aware that your results become part of your permanent medical record and that this information should be disclosed when applying for new insurance policies. A genetic counsellor can help you make informed choices about genetic testing and think about the possible implications of the test results.

Family History

Your Family History is very important to us! Your family can...
• Tell us how your IHRC is passed on in your family
• Determine who in your family requires heart screening

A family history questionnaire is designed to help your healthcare provider get a better understanding of your family health history and assess your risk of certain genetic diseases in order to determine whether you are a candidate for genetic testing.

If possible, you may want to find out about any family members who have had:
• A sudden unexplained cardiac arrest (when the heart stops beating suddenly)
• A sudden unexplained cardiac death (eg. Sudden infant death syndrome, miscarriages, drowning, single motor vehicle accidents)
• Fainting or seizure episodes
• A known diagnosis of an inherited heart rhythm condition

Top