Preventing Sudden Death In Sports By Means Of Genetic Testing: Study Launched

The BBVA Foundation and the Cardiology Service of Madrid's Hospital Clínico San Carlos have launched a new study aimed at detecting DNA alterations linked to sudden cardiac death in sports. Genetic testing is vital if the condition is to be caught in time, since most cases are asymptomatic and hard to diagnose by other means.

The Foundation has donated a latest-generation gene sequencer to the hospital's Cardiovascular Research Unit for use in its research project "Genetic testing in cardiovascular pathologies linked to sudden cardiac death among young athletes". The device is already operating all day round in the Madrid hospital, from Monday to Friday, analyzing 16 samples per hour. It is equipped to detect the Brugada syndrome - the cause of unexpected sudden cardiac death in apparently healthy hearts - in just two hours, compared to the 25 hours needed by preceding technologies.

Although similar gene sequencers exist in Spain, this is the only device devoted exclusively to the study of alterations linked to sudden death in sports.

The donation was made in the frame of the ongoing agreement between the Hospital San Carlos Cardiology Service and the BBVA Foundation spanning basic and clinical research, healthcare and epidemiological analysis.

Seizures and pre-seizures among professional and amateur athletes

Spain, unlike other countries, has no reliable data on the incidence of sudden cardiac death in the general population, although the country has over 6 million registered athletes and over 12 million people engaging in some kind of sport. Estimates suggest that between 30 and 40 sportsmen or women die from this cause each year, though only deaths occurring during official competitions get covered in the media.

"Sudden death is the final consequence, but before that come seizures or pre-seizures, and it is here that we need to detect potential victims and bring them under clinical treatment", explains Antonio López Farré, head of the Cardiovascular Research Unit within the hospital's Cardiology Service.

The research team will keep a record of all cases detected in the course of the study. For the moment, its scope is confined to the Madrid Region, where an agreement has been concluded with ambulance service SAMUR for a special code 33 to be activated in all cases of seizures involving an amateur or professional athlete.

This code indicates that the SAMUR team should transport the patient directly to Hospital Clínico. There, he or she will be treated in the Accident & Emergency Department and offered the choice of taking part in the study. Those who accept will be subjected to genetic tests using the sequencer installed in the Cardiovascular Research Unit in order to detect possible alterations associated with sudden death.

If some such alteration is found, the patient will be placed under the appropriate medical care, and also offered the opportunity to have his or her relatives tested to see if they suffer from the same pathology.

In its first weeks in operation, the sequencer has analyzed the genes of 85 athletes (65 men and 20 women). In each case a series of test were run depending on the possible condition. To date, 4,067 sequencings have been carried out along with 5,523 sequencing reactions.

Source:
Silvia Churruca
Fundación BBVA