Genetic Testing for Family Members

In most cases, genetic testing is used to help determine which family members could develop the heart problems that are running in the family and which family members will not develop those heart problems. 

Genetic testing is first done on a family member who has the inherited heart condition.  The aim of this test is to identify the difference in the DNA (called a mutation) that is the cause of the individual’s heart condition.  

Once the mutation has been found, other family members can have genetic testing to find out whether or not they inherited the mutation and could develop the heart condition that’s running in the family. In many cases, the genetic test results do not change an individual’s diagnosis or how their heart condition is treated.  Instead, genetic testing is used to help determine which family members could develop the inherited heart condition that is running in the family.

The first step is for someone in the family who has the inherited heart condition to have genetic testing.  If this testing finds the mutation that caused that person’s heart condition then other family members can be tested for that same mutation.  Family members who did inherit the mutation could develop the heart condition. 

These family members need to be evaluated by a cardiologist for signs of the inherited heart condition.  Special cardiac tests are often needed and these usually need to be repeated every few years.  Family members who did not inherit the mutation are not at increased risk to develop the heart condition that’s in their family.  They do not need any special cardiac evaluations.

In most cases genetic testing is the only way to determine which family members did not inherit the condition.  Without genetic testing, all at-risk family members need ongoing cardiology evaluations.  Family members need to continue to have these evaluations until genetic testing shows that they did not inherit the mutation that predisposes to the heart condition in their family.