Genetic testing for inherited heart disease can identify the cause of a family’s heart disease. Testing can also help determine which specific relatives are at risk for developing it, beyond the general assumption that 50% of the family will develop the condition. It is important to recognize that results cannot predict when the condition will develop or how severe it may be. Inheriting the mutation is not a guarantee that disease will develop, although it will cause the disease in many people. Furthermore, there are typically no treatments that can prevent or change the course of disease; however, we hope that such preventive treatments will be developed in the future.

Genetic testing is the process of taking a sample of a person’s DNA to look for changes that could cause inherited heart disease. Important changes in genes are called pathogenic mutations. The term “pathogenic” means disease-causing.

Genetic testing can be used to:

  • Clarify the diagnosis in a person who has, or is suspected to have, inherited heart disease
  • Identify the cause of heart disease in a family
  • Predict which family members are at risk to develop the family’s heart condition
  • Provide options for family planning, including preimplantation genetic diagnosis to try to avoid passing a disease-causing mutation to offspring

Genetic testing should be thought of as a family test rather than a test on an isolated individual. Although the testing process may start by taking a blood sample from one person, the results are best understood when the family is evaluated as a unit. This way, both the genetic test results and medical test results are available, providing the most accurate picture of how the disease and the gene mutations may act in that particular family. Such comprehensive information not only helps to identify specific patterns in the family, but also plays an important role in confirming that the gene mutation is truly an accurate marker of the family’s heart disease.

Carefully reviewing the family history helps to identify the best person in the family to be tested first to try to initially find the gene mutation that causes the family’s heart disease. To increase the chances of getting useful results, this person should be someone who has a clear diagnosis of the inherited heart condition; ideally the most severely affected family member. A sample of this person’s blood will be sent to a genetic testing laboratory to undergo genetic testing for his/her condition.

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Dr. Drew Sutton