Tests capable of identifying individuals who are at risk of hereditary arrhythmogenic diseases can already be performed
I am 39 years old and in my family there have been various cases of cardiovascular disease, which sometimes even caused the death of the person at a young age. Are there specific tests, for example genetic, able to establish whether I too am at risk of developing a major heart problem over time?
He answers Valeria NovelliCardiogenetics Program Coordinator, Monzino Cardiology Center, Milan (GO TO THE FORUM)
The answer yes. Genetic testing, if performed appropriately and associated with appropriate cardiological checks, can become a useful tool to identify subjects at risk of hereditary arrhythmogenic diseases (BUT IT IS). MAEs are a group of cardiac pathologies of genetic etiology and represent the leading cause of sudden death in young and apparently healthy individuals. They include both cardiomyopathies, characterized by the presence of macroscopic structural alterations of the heart muscle (for example hypertrophic or dilated cardiomyopathy), and the so-called channelopathiesdiseases that predispose to the development of life-threatening arrhythmias in subjects with a completely normal-appearing heart (for example long QT syndrome or Brugada syndrome). In the case of a clinical suspicion of MAE, following a pre-test genetic counseling in which the suspicion is assessed and the limits and benefits of the test are explained to the patient, a simple blood draw and we proceed with the analysis, through sequencing, of the genes responsible for that specific hereditary cardiac pathology.
The genetic test, depending on the type of MAE, can have different roles (certainly diagnostic, but also prognostic and therapeutic) and also allows you to identify potential family members at risk of cardiac events. The test results can reveal three different scenarios: 1) the presence of a mutation, a pathogenetic variant, the cause of hereditary pathology; 2) the presence of a variant of uncertain meaning, i.e. not clearly classifiable as the cause of the disease and therefore not clinically useful; 3) a negative test, in which it is excluded that there are mutations in the analyzed genes, but the presence of the pathology is not excluded, therefore it is advisable to continue with cardiological checks over time. During post-test genetic counseling the results of the genetic examination and its practical consequences are communicated to the patient, based on the type of disease. Furthermore, in the case of the identification of a pathogenetic variant, the test will be suggested to other members of the family potentially at risk.
In your specific case it would be appropriate to run before the targeted cardiac checkupssuggested by your trusted cardiologist, and do a pre-test genetic counseling to outline the genetic risk profile in your family. In the pre-test consultation, a detailed family history, particularly focused on gathering information relating to the presence of cardiac events such as syncope or arrest (especially in young adults and children) is of fundamental importance in making a decision regarding the use of the test. Given the complexity of the test and its interpretation, it is advisable that the clinical-genetic path take place in structures specialized in the diagnosis and treatment of MAEin which there are experts from multiple disciplines with the necessary skills to follow patients, starting from the moment of clinical presentation throughout the clinical and genetic diagnostic process, up to the choice of the most appropriate treatment.
November 28, 2022 (change November 28, 2022 | 14:10)
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