Heart-related diseases are the leading cause of death in the world and in our country. Cardiological diseases, which are a wide group of diseases, are caused by underlying factors such as obesity, blood pressure and cholesterol; It may be due to habits such as stress, smoking and irregular diet, or it may be related to genetic factors.
Hereditary Cardiological Diseases
Hereditary cardiological diseases develop due to harmful changes (variants) in our genes and are passed on from generation to generation. Diseases in this group may be due to changes in a single gene, or in some cases, they may have a complex structure due to multiple genes and environmental factors. In addition to structural heart defects, diseases that can progress insidiously or result in sudden death such as arrhythmia and cardiomyopathy are included in this group.
Sudden Cardiac Deaths Can Be Prevented!
Sudden cardiac death is defined as death from cardiac causes occurring shortly after the onset of symptoms. It may be due to previously known heart conditions, or it may occur in people who have not shown any symptoms. Sudden cardiac death mostly affects adults, but can also occur in teenagers and children. One of the main causes of sudden cardiac death, especially at a young age, is genetic factors. Some genetic defects cause the heart to not pump properly (cardiomyopathies). In some cases, although the heart is structurally normal, rhythm problems (arrhythmias) may develop due to genetic reasons.
Genetic Tests in Hereditary Cardiological Diseases
A variant that is present in our parents will be passed on to us with a 50% probability, and with a 50% probability from us to our children. In case of having a disease-causing genetic change associated with cardiological diseases, close family members may be affected as well as the person himself. Timely detection of hereditary cardiological diseases can significantly reduce the risk of developing the disease and help prevent the risk of sudden cardiac death. Identification of genetic changes helps to identify risks early and, in some cases, to take action before symptoms begin. With regular doctor control, lifestyle changes, preventive treatment and surgical interventions, it may be possible to lead a long and healthy life.
What does genetic testing do?
- To diagnose or confirm the diagnosis in cases where an inherited cardiological disease is suspected.
- Learn about the course of the disease and possible treatment options.
- Identifying at-risk individuals in the family.
- Identifying risks and options for the unborn child for families planning to have children.
Positive test result:
It means that a mutation has been detected in at least one of the tested genes.
A positive test result may have a different meaning depending on the reason you had the test. If you have had the test to determine your cancer predisposition, a positive result does not necessarily mean that you will get cancer. However, to reduce your risk, your doctor may suggest lifestyle changes or preventive interventions and treatments. Testing can be recommended for your family members at risk of carrying the same mutation. If the test is performed for treatment planning, appropriate and unsuitable treatments can be determined.
Negative test result:
It means that no mutations were detected in any of the tested genes.
The negative result applies only to the genes included in the test administered to you. It does not mean that you are not at risk of cancer.
Indeterminate conclusion:The effect of the change detected in the tested genes means that there is not enough information yet about whether it is harmful or not.
The next steps should be determined in line with your health condition and family history. Your test results should be re-evaluated at intervals to be determined by your genetic counselor, in the light of current information.