The identification of the pathological molecular mechanisms arising from an abnormal gene has allowed the development of a new personalised approach to the diagnosis and treatment of cardiovascular diseases. Sometimes a change (mutation) occurs in one of the gene transcripts resulting in the gene not functioning properly. This mutation can potentially result in the gene not giving the correct instructions to our body, causing a genetic condition. Genetic testing can detect such mutations in specific genes and is usually done on a blood sample.

Before genetic testing is carried out, genetic counselling is carried out, during which the benefits, risks and limitations of the possible genetic testing are analysed. We take a blood or saliva sample from the patient and read the DNA in order to identify mutations (gene variants) that result in the disease our patient has.

It will win the documentation of the "molecular error" that results in the disease. When we know the basis of the problem we can do more targeted and personalized treatment. We will gain information related to prognosis, prevention of sudden cardiac death and also the choice of treatment. Hereditary diseases of the heart and blood vessels are associated with sudden cardiac death, but not all patients have the same prognosis and do not need the same treatment.

Genetic testing is paving the way for new genetic therapies for inherited heart and vascular diseases. Rapid advances in technology are expected to increase the amount of genetic information available and easy access to genetic testing is expected to further strengthen the contribution of genetic testing to the implementation of a personalised approach.