Genetic testing for Inherited Cardiac Conditions

Inherited Cardiomyopathy or arrhythmia is usually caused by a fault in a specific gene, and if someone is diagnosed with a cardiomyopathy or arrhythmia, he or she may be offered a genetic test to look for a genetic fault.  The results of a genetic test may, but will not necessarily influence your treatment but can be useful for advising other family members.

You  may  meet with a genetic counselor who will discuss the advantages  of genetic testing, what kind of result is possible and what the result might mean for you and other people in the family.  If you decide to go ahead with genetic testing, you will be asked for a blood sample. The results take a few weeks, and you will be informed when they come back.

What does genetic testing mean for relatives?

If the laboratory finds a genetic cause for the inherited heart disease in one person in a family, relatives can be offered a blood test to look for the same gene change. This applies to close blood relatives. This kind of test is called a ‘pre-symptomatic genetic test’, and will tell us whether a relative is at risk of developing the inherited heart condition, even if they have no symptoms. It is important to realise that pre-symptomatic testing cannot tell whether a person will develop the inherited heart condition, or when. 

Relatives who have inherited the same gene change should then see a cardiologist who will look at heart structure and function by, for example, echocardiogram and ECG. Relatives who don’t inherit the gene change don’t need to see a cardiologist.

A genetic test for inherited heart disease does not always find a cause - this does not mean the condition is not inherited. Close blood relatives should be screened by echocardiogram and ECG, to see whether there are signs of the condition in their heart.