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HNS

Applied genetic diagnostics for athletes

St. Catherine
Hospital and Croatian
Football Federation
to start a pilot
project of multiple
genetic screening

28.12.2018.
St. Catherine Hospital and Croatian Football Federation to start a pilot project of multiple genetic screening
photo by: HNS
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St. Catherine Hospital and Croatian Football Federation to start a pilot project of multiple genetic screening for inherited cardiovascular disease to evaluate presence of mutations associated with in sudden cardiac death (SCD) among the predisposed athletes

Zagreb, Croatia, December 27, 2018- St. Catherine Specialty Hospital, the official hospital of Croatian national football team, and Croatian Football Federation are to start a unique project in the Europe: a systematic genetic screening for inherited cardiac diseases in identifying at risk subjects for sudden cardiac death (SCD) and to solve diagnostic uncertainties.

Approximately 85% of all sudden deaths (SD) are of cardiac origin, otherwise known as sudden cardiac death (SCD). Sudden cardiac death of athletes is a tragic and highly emotional event that opens up many questions among the general public, as well as expert groups, such as "how is it possible that something like that happens to a seemingly healthy and successful athletes" or "how to prevent such a sudden and unfortunate occurrence"?

As a fact, extremely intensive physical activity can temporarily increase the risk of sudden cardiac death among the predisposed athletes. Medical literature states that, due to increased physical activity, the athletes are 2.8 times more prone to sudden cardiac death, compared to the population that is not involved in sports activities.

Most SCD- related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Continuous efforts in researching the genetic basis of SCD will be essential to improve current diagnostic testing, early prevention, and risk stratification.

During this pilot project the multiple genetic analysis with Cardio Screen multi-gene panel test covering 77 genes will be made in order to evaluate the presence of mutations responsible for numerous cardiovascular conditions, including: cardiomyopathies, arrhythmias, aortopathy, pulmonary arterial hypertension, etc.

However, the focus will be on mutations associated with sudden cardiac death and cardiomyopathies (particularly hypertrophic cardiomyopathies) and electrophysiological disorders which determine an electric instability responsible of the onset of ventricular arrhythmias, same as the case of long QT syndrome (LQTS), the Brugada syndrome (BS), catecholaminergic polymorphic ventricular tachycardia (CPVT), etc.

In regarding to systematic examinations of athletes, Croatian Society of Sports Medicine of the Croatian Medical Association has issued guidelines in accordance with the standpoints of American Heart Association, European Society of Cardiology, and International Olympic Committee, emphasizing that it is "especially worrying that most athletes with undiagnosed heart disorder unfortunately have no symptoms, and the only way to prevent sudden cardiac death is primary prevention, including electrocardiography (ECG). In case of a possible heart disorder, additional exams are necessary, including echocardiography, ergometry, 24h Holter ECG monitoring, cardiac magnetic resonance, etc". Furthermore, "more and more genetic testing today is done on deceased athletes, in order to gain more information on these disorders, to optimally prevent sudden cardiac death in the future".

To summarize, the objective of St. Catherine Specialty Hospital and Croatian Football Federation is to perform genetic screening of mutations associated with SCD particularly among the predisposed athletes (athletes with family history of sudden death, premature cardiovascular disease; personal history of chest discomfort, shortness of breath, syncope or performance decline).

Moreover, in accordance with the Guidelines (Standpoints) of Croatian Society for Human Genetics within Croatian Medical Association, any person identified through genetic screening as a high-risk case will be informed through genetic counseling, upon risk identification and after additional testing. All of the above will help in SCD prevention as well as designing an optimal treatment.

Davor Šuker, President of the Croatian Football Federation
"In cooperation with our official partner, St. Catherine Specialty Hospital, we start this project with a great enthusiasm. Understanding the natural history of disease is an important feature for any screening program and with this project we would like to recognize some important cardiovascular conditions in early stage. We are particularly proud to be part of the project which aims to identify athletes at genetic risk in order to prevent unexpected serious events.”

Professor Dragan Primorac, M.D., Ph.D. President of the Board of Trustees of St. Catherine Hospital
"Sudden cardiac death is the leading cause of death among athletes and every new diagnostic effort is important in preventing this sudden, tragic event that leaves a mark in any society. Even European Society of Cardiology and the American Heart Association advocate cardiovascular screening of young athletes that is still not universally accepted. However, genetic studies conducted during the past years have confirmed the genetic basis of the inherited cardiac disorders associated with sudden cardiac death. Naturally, this suggests a need for a comprehensive genetic screening to aid or confirm the diagnosis of heritable cardiovascular diseases associated with SCD, particularly among the predisposed athletes.”

 

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