Genetic Testing for Inherited Heart Disease

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 for the following:

  • To clarify the diagnosis in a person who has or is suspected to have inherited heart disease

  • To identify the cause of heart disease in a family

  • To predict which family members are at risk of developing the family’s heart condition

  • To provide options for family planning, including pre-implantation genetic diagnosis, to try to avoid passing a disease-causing mutation to offspring

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 each immediate relative of an affected person has a 50% chance of developing the family’s heart 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.

Predictive genetic testing is a streamlined type of testing that can be performed if comprehensive (diagnostic) genetic testing definitively identifies a disease-causing mutation in a relative who has the family’s heart condition. Predictive genetic testing involves determining whether the family’s gene mutation is present or absent in a family member who is at risk for developing the family’s heart disease but currently appears healthy. If the mutation is present, that person is at risk for developing the family’s heart condition and should have regular examinations to look for evidence that disease is developing. If the mutation is absent, that individual is unlikely to develop disease but should be thoroughly evaluated if there is any change in how he or she feels or if the doctors have any concerns.

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