Complete cardiological treatment and genetic tests for the detection of hereditary diseases of the cardiovascular system
St. Catherine Specialty Hospital developed a comprehensive model for the prevention of sudden cardiac death and other cardiovascular disorders by analyzing 563 genes and mutations associated with conditions that can lead to sudden cardiac death and other cardiometabolic disorders.
According to recent scientific publications, all athletes belong to the "risk group" category due to increased physical activity and a 2.8 times higher risk of sudden cardiac death compared to the population that does not practice sports.
Scientists of the St. Catherine Specialty Hospital, the official hospital of the Croatian Football Association, in cooperation with colleagues from the USA, Canada, Croatia, and Germany published results related to the role of specific genetic markers as possible predictors of sudden cardiac death in athletes. The results of the research which included three athlete’s family generations who died of sudden cardiac death were published in the scientific journal Frontiers in Medicine. In the published study, the largest number of genes associated with a series of hereditary cardiac conditions that lead to sudden cardiac death were analyzed so far, namely 294 genes associated with sudden cardiac death. Among the analyzed genes are those that lead to disturbances in the electrical activity of the heart including hereditary disorders of the ion channels of the heart such as prolonged QT interval syndrome, and Brugada syndrome but also genes whose changes lead to structural changes in the heart such as cardiomyopathy (most often hypertrophic cardiomyopathy) and many other conditions. The analysis also includes an additional 269 genes (563 genes in total), which cover cardiometabolic disorders and other hereditary cardiovascular diseases.
The aforementioned concept will represent the basis for optimal treatment and if necessary the installation of a cardioverter defibrillator in at-risk athletes to reduce the frequency of sudden cardiac death.
During the initiation of the sudden cardiac death prevention model in June 2019 a member of the project team and one of the most respected German cardiologists, prof. dr. Johannes Brachmann stated: "The latest scientific knowledge suggests that the classic cardiac examination is not sufficient in the early detection of conditions that can lead to sudden cardiac death in athletes and that genetic screening in predisposed athletes takes on a key role."
Following the Guidelines (Positions) of the Croatian Society for Human Genetics of the Croatian Medical Association, all people identified through screening as people with a higher risk will be provided with information as part of genetic counseling.
Given that a large number of cardiovascular diseases that can lead to sudden cardiac death have a genetic basis within risk groups of the population in addition to standard clinical treatment by the guidelines of the European Society of Cardiology, it is necessary to perform a timely genetic screening which will lead to optimization of treatment but also a determination of recommendations related to further patient activities.
Identifying family members at risk is one of the most important benefits of genetic testing. The results of genetic tests can affect not only the individual who underwent the test but also the entire family. If your test result is positive and you have a pathogenic gene variant or a variant of uncertain significance (VUS) your family members have up to a 50% chance of also having the same mutation. Family monitoring can identify other family members who are at risk for the same medical condition. Family members who are also positive can work with their doctors on a prevention or early detection plan.