Thirty years ago Pedro Brugada discovered the syndrome which now bears his name and he has spent his whole career researching it and trying to find a cure, so far without success. He is, however, confident that it will happen soon. As a result of his work, he has been awarded the scientific prize by the Lefoulon-Delallande Foundation at the Institut de France, the equivalent of the Nobel Prize for cardiology.
What does that award mean, from a professional point of view?
Well, it's the cherry on the cake of a 40-year career in cardiology in which I have worked hard as a doctor and also as a scientist. It's a very special award because it is a very important recognition for cardiology. It's a great honour, because you can't put yourself forward as a candidate, they grant it to you when they consider that you have made an important contribution to medicine.
And what does it mean for the healthcare system in Malaga? You work at Hospiten Estepona, don't you?
It's as if a worker in a factory won a prize and the company is delighted. I hope the whole medical collective in Malaga is happy too. But I am, in fact, a man with no frontiers. For me, Spain, Belgium, Holland, and the USA are all the same from a scientific point of view.
In this country there are often complaints about the lack of support for scientific research. Are those criticisms justified?
There is very good scientific research in Spain. There are numerous research centres and university hospitals, where they are doing important things. Nowadays, the level in this country is very high. The problem is in the whole of Europe, not just Spain, and it is due to a lack of funding. Things have changed. Research used to receive a lot of support from industry but that has decreased a great deal since the relationship between industry and the medical world was changed to prevent conflicts of interests. The economic crisis in 2008 also had an impact on the whole of Europe and that is still being felt today. Despite having researchers of a very high standard, the resources are very limited.
You discovered the Brugada sudden death syndrome, which has been named after you. What is it, exactly?
It is an illness in the electrical part of the heart. The structure is normal, but the electrical part has a genetic defect which means that suddenly, without warning, there can be arrhythmia, an irregular heartbeat or ventricular fibrillation which causes sudden death. The cause is probably due to problems in the sodium channel which controls the electricity of the heart. It is a hereditary condition which is passed from parents to children without missing generations.
How prevalent is it?
The first case I saw was in a child, 33 years ago, and six years after that I published my first findings. At that time it was a curiosity and didn't arouse much interest, but nowadays we know that Brugada syndrome is the most important cause of sudden death in young people with a normal heart, thanks to a study carried out in Britain. If you look at families in which somebody apparently healthy has suddenly died, Brugada syndrome is the number one cause. About 62 per cent of sudden deaths are due to Brugada syndrome. In areas where this illness is endemic, like south-east Asia for example, one in every hundred men is a carrier of this syndrome, and in Europe it would be one in a thousand. It has completely changed the concept of this illness, which used to be classified as rare but is very common now.
And is it detected easily?
It isn't often diagnosed. When a young person dies, if there is no autopsy or studies done on the family to find out whether it is hereditary, it isn't going to be diagnosed. If they don't do autopsies, we are never going to be clear about the diagnosis. And a molecular or genetic autopsy is also necessary, to look into the genetic material and see whether the person was a carrier of this hereditary illness.
So cardiac check-ups are very important even if there do not appear to be any heart problems.
Definitely, and the person's family history should also be checked. If there are two or more cases of unexpected deaths in a family without the cause being known, that sets alarm bells ringing for us because it could be a case of Brugada syndrome. Doctors often examine patients but forget to ask whether any family members have had problems. If they have, then we need to look into it further and do more tests.
So should we forget the idea that sudden death is an illness which only affects people who do sports?
Most victims of sudden death don't do sport. Two out of every three people who die suddenly have no relation to sport whatsoever. If we only checked athletes, we would only be looking at one-third of those affected. We need to check the whole population.
What stage is your research at now?
We are in an interesting phase. First we found that it was a genetic defect, and we also realised that it is passed from parents to children. We also know how the electric function of the heart is altered now. They have carried out research to find medication, but unfortunately those haven't worked because of the side effects.
So there is still no cure for Brugada syndrome?
At present, the only way to prevent sudden death is with an implantable defibrillator, but as we know what the genetic defect is now, I believe that in the near future it will be possible to manipulate the illness genetically and cure the patients. In other words, once we know that this genetic defect exists, we cut it with genetic scissors; we cut the piece and substitute it with a normal bit. It's what is known as CRISPR. For the moment, Brugada syndrome can't be cured with genetic scissors but experiments are being carried out on animals to correct these defects in the future. I never thought I would see a cure, but now it seems that I might. But what is most important is the diagnosis, because if you don't know that a patient is affected, the first sign of it can be sudden death.
So what measures are taken with regard to people who are diagnosed with it?
We carry out tests to see who is suitable to be given an implantable defibrillator, because it is a very serious decision and it depends on the risk. At the moment it is all we have to combat sudden death syndrome.