Doctor Juan Sabater welcomed the study of genetic causes in sudden deaths.

Spain, September 2012.- It is a great initiative the study genetic polymorphisms that can relate to the risk of the sudden death in athletes ”, as was established last July in a pilot project agreed by the Superior Court of Justice of Catalonia, the Institute of forensic medicine and the of research biomedical Girona-IdIBG. My colleague from the Royal Academy of Medicine of Catalonia and good friend, Professor Ramon Brugada, years ago investigating genetic polymorphisms and heart disease so surely that it will do the job with great rigour.

In Catalonia, around 300 sudden deaths are recorded per year. About 50,000 are recorded in the world. According to world statistics there are 1 each 200,000 athletes and sport 1 groups by each 50,000 in corridors of Marathon and 1 each 15,000 in joggers. The most frequent in young people (less than 30 years) causes are Arrhythmogenic cardiomyopathy and severe left ventricular hypertrophy, while 30% are of unknown cause and this is the group that has more interest at the time of search for genetic polymorphisms of risk.

As a starting point, it has already shown four plakofilina 2 gene polymorphisms are associated with an increased risk of sudden death. Protein plakofilina synthesized by this gene is a glycoprotein present membrane of desmosomes, cell structures that remain attached to the neighboring cells. The variance in number or quality may result when a myocardial cell depolarization for contraction, the neighboring cells not synchronized this contraction, causing an arrhythmia.

The goal is to find an index of individual risk of sudden death. We insist that it will be an index of risk, not a certainty and the ethical problem diagnosis will be presented to an elite athlete are several polymorphisms that indicate that you have a higher risk for sudden death: to which index of risk you will have to recommend to leave the sport? What will they tell the clubs who have invested millions in his move? should these tests include are previously medical reviews of professional athletes? is it ethical to do so? may athletes refuse to make them? You will have to perform these tests to everyone before certain sports? As in one term or less brief will be to find positive results, it is worth also start to raise these important issues.

Dr. Juan Sabater-Tobella. President of EUGENOMIC.