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30 years studying Brugada Syndrome

Posted on 24-01-2017

-  Dr. Pedro Brugada spoke at the College of Physicians in Malaga on the history of the syndrome since its discovery.

 

-  The discovery of Brugada Syndrome in 1992 revolutionized the field of cardiology preventing sudden death in patients with underlying cardiac disease.

 

Dr. Pedro Brugada, who together with his brothers discovered the genetic mutation, and who currently heads the Hospiten Estepona Arrhythmia Unit, spoke at a conference at the College of Physicians moderated by the head of the Cardiology Service and director of the Heart Management and Vascular Disease Unit at the Carlos Haya Regional Hospital, Manuel de Mora-Martin, and by the head of the Hospiten Estepona Cardiology Service, Antonio Ramirez-Moreno.

Brugada Syndrome is a genetic disorder. It is caused by a mutation in the gene responsible for the formation of proteins that regulate the passage of ions through the cellular membrane, called ion channels, which is why the disease is included in the group known as channelopathies. Any change in the flow of ions through heart cell membrane creates abnormal electrical activity, which can lead to arrhythmia, generally ventricular, that in turn may cause syncope (fainting), or sudden death.

Since its discovery decades ago, numerous lives have been saved. Brugada began to investigate the syndrome in 1986, when the case of two siblings fell into his hands, one of which had suffered various cardiac arrests and whose sister had died of the same cause. For that reason, the doctor explains that over thirty years the complexity of the mechanisms causing the disease has grown. Dr. Brugada points out that from the point of view of the prognosis, the advances have been huge, particularly because they have developed a system to evaluate risk based on clinical parameters and the results of an electrophysiological study, “which is an integral part of the prognosis evaluation for patients with Brugada Syndrome”.

 

 

 

 

 

 

 

 

The conference dealt with the diagnosis of the syndrome to prevent sudden death, the importance of treatment and the advances in treatment. “From the treatment point of view, the implantable defibrillator has shown indisputable capacity to prevent sudden death by ventricular fibrillation, but the future undoubtedly lies in genetic treatment. Pre-implant genetic diagnosis after in vitro fertilization is now a reality. Curing the disease through genetic manipulation may be a reality in the very near future”.

Pedro Brugada, qualified in Medicine and Surgery at the University of Barcelona, Doctor in Medicine and Professor in Cardiology at the University of Limburg in Maastricht, was awarded the Gold Medal of the European Society of Cardiology (ESC) and was chosen to lead the specialist unit of the Hospiten Estepona Cardiology Service. Furthermore, Dr. Brugada is a world reference in the study of genetic causes of sudden cardiac death. Understandably, he was one of the discoverers of Brugada Syndrome, named after the doctor himself in recognition of his scientific contribution to classifying hereditary arrhythmias leading to sudden death.

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