Some heart conditions, like heart muscle diseases (called cardiomyopathies) and certain heart rhythm problems, may have a genetic cause. Your healthcare provider may suggest genetic testing to look for a cause for your or your child’s heart problem.
In rare cases, knowing the genetic cause of a heart problem can lead to a specific treatment, such as a new medicine or device. More commonly, finding a genetic cause does not change how your doctor looks after you, but may still be helpful information for you and your heart specialist (cardiologist). And if a cause is found, then genetic testing can be a helpful screening tool for your family.
To do a genetic test for inherited heart conditions, a lab will take a sample of blood. It can give 4 kinds of results:
- Positive: A positive result means that a genetic cause is found for your heart condition.
- Negative or uninformative: A negative or uninformative result means that the test did not find a genetic cause for your heart condition. Because this test does not check for every possible genetic condition, certain screening tests may still be recommended to your relatives.
- Uncertain: An uncertain result means that a genetic difference was found that is not well understood. It may or may not explain your heart condition. If you have an uncertain result, your healthcare team will discuss possible next steps to try to better understand this result.
- Complex: There are several types of complex results. A complex result can mean that the test found more than 1 genetic difference. A complex result may also identify a syndrome. In these cases, you may need more tests or be referred to a specialist. Complex results are rare.
When a genetic cause is known in your family
There are many inherited conditions that affect heart health. In some families, there is a known genetic cause for the heart condition. These are called inherited heart conditions.
If there is a known genetic cause for an inherited heart condition in your family, genetic counselling is available to you to discuss the option of genetic testing and heart screening recommendations. A genetic counsellor will ask you about your health and family history, and explore with you the medical and emotional aspects of genetic testing.
Genetic testing usually starts with a family member who has a heart condition. If a genetic cause is found, their family members can then have genetic testing to learn about their chances of having or developing the heart condition.
