This post is also available in: Italiano (Italian)
This article is especially addressed to members of the Facebook group “BrugadaSyndrome“.
… a term worthy of some explanation.
Awareness is not simply being informed about something or simply knowing, but it represents that body of information material, of knowledge, through which we construct our subjective ideas, our view of things and the world, which enable us to evaluate and make decisions.
Awareness derives from the term ‘consapere’, which is made up of ‘with’ and ‘to know’, and therefore represents a purely intimate and subjective fact, constructed from the correct knowledge of something.
In a specific case, to become aware of a problem or phenomenon means to gather information about it in the most correct and objective way and
to analyse it until one’s own idea is built up (that is subjective!), which allows one to relate correctly to that given problem or phenomenon and “take” the right decisions for oneself.
This process obviously cannot be passed on by anyone, but it is a path that everyone can follow based on a careful analysis of information collected fairly and objectively.
I read all the posts and comments on the “Brugadasyndrome” group very carefully, and I realise how low the level of awareness is with regard to the “Brugada” problem.
One seeks truths that cannot be found, solutions that are better than others that do not exist, certainties that evidently do not exist, one identifies gurus, luminaries, gods, strongly claiming their qualities of solving a problem for which at the moment there is no solution, but much confusion. People try to give advice to others, based on their own personal experiences, staying completely to themselves, forgetting that the other person may have a different situation from ours! So it can happen that someone who, unfortunately, has suffered a serious event that has happened to himself or to a member of his family, advises everyone to implant a defibrillator ‘to prevent a time bomb that we keep in our chest from exploding at any moment’ or, or, on the contrary, an asymptomatic ‘Brugada-phobe’ tries hard to reassure all the members, almost suggesting that the Brugada does not really exist, but he does this not so much to help others as to seek reassurance! Then there is the one who has done a certain therapy and, convinced of being cured or to convince himself even more, recommends this therapy indiscriminately to everyone!… Well! Certainly you can not and should not blame anyone for such behavior, it is all very understandable …
You are terribly frightened and willing to resort to anything you can do, just to protect yourself from something that you do not know, or rather of which you are not aware! For example, when I was a child, I was terrified of the images on the wall produced by the ‘magic shadows’ or the ‘shadow game’… before I realised that they were just shadows!
Becoming AWARE of the Brugada involves constructing one’s own personal idea from some objective data.
I will endeavour to provide you with some of these data in an extremely synthetic (and obviously not exhaustive) form, in the hope that they will help you construct your own correct subjective ‘vision’ that will allow you to make the choices,
which are yours alone, that are right for you:
Brugada syndrome arises as an association of a particular ECG + Symptoms (NOT just ECG!)
It all goes back about 30 years, when the presence of a certain ECG in subjects resuscitated after cardiac arrest was highlighted.
From early studies, it seemed that even those who had a typical ECG in the absence of symptoms were at high risk.
The first studies conducted in later years showed a considerable arrhythmic risk rate in asymptomatic subjects with typical ecg.
The results of the first studies led to extensive use of the implantable defibrillator in asymptomatic patients.
As a result of the results of these initial studies, the problem of protecting asymptomatic individuals with typical ECGs by means of the only possible therapy – defibrillator implantation – arose.
Research has endeavoured to identify risk assessment criteria to avoid excessive implants due to defibrillator-related risks
At the same time, the scientific community has focused on identifying strategies to better stratify risk in asymptomatic patients and avoid defibrillator use whenever possible, as this does not come without risks, sometimes serious ones.
Contrary to early studies, it is now clear that typical ECGs (or similar) are frequently found, but manifestations (symptoms) are rare.
After 30 years it has become clear that the dreaded ECG sign is much less rare than expected (up to 1×1000 of the population in some geographical areas) and is often discovered occasionally during routine check-ups in completely healthy and asymptomatic subjects. It has therefore been realised that in previous years too many defibrillators had been implanted that were probably
unnecessary, and that the real problem today is to identify, within a large mass of subjects, those who are really at risk of malignant arrhythmias.
The different approaches adopted in clinical practice depend on the fragility of scientific knowledge.
As a result, the behaviour of doctors throughout the world is very uneven: some tend to emphasise the risk by giving extensive indications for prophylactic ICD implantation, while others adhere scrupulously to the restrictive criteria of the current international guidelines. All of this adds considerably to the confusion and fear among patients.
To date, there are NO CERTAIN diagnostic criteria.
THE ELECTROCARDIOGRAM IS NOT SPECIFIC.
The typical electrocardiogram, and especially the patterns considered suspicious (type 2 and type 3), are NOT specific and may be present due to pathologies other than Brugada syndrome, but also produced by other often transient causes such as drugs, electrolytes, malformations, particular chest conformations etc. (phenocopies) or may be present for entirely physiological reasons (NOT pathological and benign). They can also be produced by other often transient causes such as drugs, electrolytes, malformations, particular thoracic conformations, etc. (phenocopies) or they can be present for entirely physiological reasons (NON-pathological and benign). Finally, the so-called type 2 or 3 patterns, which are often the driving force behind other investigations, sometimes even invasive, can be produced erroneously by incorrect positioning of the ECG electrodes in some leads (which happens much more often than one imagines).
THE PHARMACOLOGICAL TEST IS NOT SPECIFIC
It is now common practice to indiscriminately subject the bearers of ecg considered suspicious e.g. “type 2” or “type 3” to a pharmacological test (flecainide, ajmaline, etc…) to induce the appearance of a “type 1 pattern” considered “diagnostic”. It is important to know, however, that this test is NOT specific, and its positive result must be interpreted with great caution, as there is no definite evidence to date regarding its interpretation. Studies have shown the appearance of type 1 after drug testing in situations other than Brugada syndrome. For this reason, a recent international consensus report of experts recommends that a diagnosis of Brugada syndrome should not be made on the basis of a positive drug test alone.
To give an example of a possible blatant false positive, imagine the situation of a healthy and completely asymptomatic subject, who undergoes a routine ecg where, due to an incorrect positioning of the electrodes, a type 2 or 3 is found with a subsequent positive ajmaline test… or how to “transform” a healthy person into a “sick person”…
Well, this possibility does exist. It is therefore important to select the category of patients who can benefit from such a diagnostic test, since extensive use of the test, which is now common practice, is not easily supported. In fact, even if the test is positive, in the absence of risk factors, the incidence of sudden death in these subjects is in line with that of the general population. It should also be pointed out that this is a much more frequent finding than spontaneous type 1 and is not infrequently diagnosed in clinical practice in the absence of all the necessary criteria. Extensive use of the test therefore risks turning too many healthy individuals into theoretical patients, undermining their psychological serenity and unfairly restricting them in their sporting and working activities. Last but not least, it should be borne in mind that the test is not risk-free, as it can trigger dangerous ventricular arrhythmias that are difficult to treat.
GENETIC TESTING DOES NOT ALLOW DIAGNOSIS
There is no genetic test that to date can tell whether you have Brugada syndrome or not.
TODAY, IT IS NOT POSSIBLE TO ACCURATELY STRATIFY ARRHYTHMIC RISK.
To date, it must be admitted that it is impossible to accurately stratify arrhythmic risk. Thus, in reality, there are cases of subjects with previous cardiac arrest who were resuscitated and then had nothing more for the rest of their lives, as well as cases of completely asymptomatic subjects who, over time, developed potentially dangerous arrhythmias, even recurrent ones. What is
certain is that the arrhythmic risk in asymptomatic carriers of “brugada” ecg is low, particularly in those whose brugada pattern is revealed only by drug testing: studies show an incidence of about 1% per year in spontaneous pattern carriers and about 0.2-0.4% in those who show the brugada pattern only after drug testing. It is important to emphasize, however, that these data overestimate the true incidence of cardiac arrest because they are derived from studies with registries consisting of patients with and without ICDs in which a combined endpoint of sudden death (in subjects without ICDs) and appropriate shock (in subjects with ICDs) was evaluated at follow-up, without considering that the ICD may intervene on potentially non-fatal and/or self-resolving arrhythmias. It is therefore realistic to expect even lower risk rates.
THE SIGNIFICANCE OF THE ELECTROPHYSIOLOGICAL STUDY IS UNCERTAIN
The limitations of the available scientific data and the conflicting results of the various studies do not allow the value of the PES in predicting arrhythmic risk to be established with a good degree of confidence. Several studies support the usefulness of the PES, while just as many deny it altogether. The main reasons for these confounding results are at least two: the use of inhomogeneous pacing protocols (in some works very aggressive and in others less aggressive) and the poor specificity of induction of polymorphic ventricular tachycardia/syncopal ventricular fibrillation (SEF+). Recent studies have shown that a positive PES may be useful in predicting arrhythmic risk when conducted with less aggressive protocols particularly in subjects with spontaneous type 1 pattern and syncope. It has also been shown that the negative predictive value of PES in asymptomatic patients is high, so that patients who test negative are unlikely to have problems in their lifetime. In conclusion, given the non-negligible possibility of false positives of PES, it is necessary to assess very carefully who can actually benefit from this test.
THE DEFIBRILLATOR IS NOT ALWAYS NECESSARY
The use of the implantable defibrillator is today the most effective weapon in preventing sudden cardiac death in patients with Brugada syndrome. However, it is important to be able to identify precisely the category of patients who can benefit from defibrillator implantation in primary prevention. In particular, it is important to avoid the extensive use of this procedure on the basis of the outcome of diagnostic and prognostic tests of unclear interpretation (e.g. drug test / PES + ). The risk of defibrillator-related side effects does not justify its use in patients with a potentially low arrhythmic risk. It should be borne in mind that a range of 18% to 36% of patients in the various studies experienced serious complications, ranging from serious infections to painful inappropriate device interventions. The possibility of inappropriate interventions is also a complication of the new subcutaneous ICDs. The consequences of possible rupture of the leads and their replacement, and the pro-arrhythmic effects of the ICD itself (even dangerous arrhythmias caused by the device) must be taken into account.
NEW EXPERIMENTAL THERAPIES
EPICARDIAL ABLATION FOR BRUGADA SYNDROME
One of the pathophysiological interpretations to explain the Brugada ECG pattern and the arrhythmias of Brugada syndrome is the existence of a slow and fragmented electrical activation in the subepicardial layers of the right ventricular outflow cone. Based on this assumption, Nademanee et al. in 2011 performed transcatheter ablation of the subepicardial layers using an intrapericardial approach in a group of patients with Brugada syndrome and arrhythmic storms. Ablation of these muscle layers would have reduced ST-segment elevation on ECG and favoured the reduction or disappearance of arrhythmias. Other authors subsequently performed the same procedure with suggestive results. Ablation could therefore be a useful therapeutic aid in subjects with Brugada syndrome and recurrent ventricular arrhythmias. However, the results must be confirmed by controlled case series. On the basis of the scientific evidence available to date, this procedure has proved very useful for patients with arrhythmic storms or dangerous recurrent arrhythmias. For the time being, this procedure should only be reserved for patients with symptomatic Brugada syndrome.
DRUG THERAPY -QUINIDINE-
Several studies have shown the effectiveness of quinidine drug therapy in preventing the occurrence of ventricular arrhythmias in patients with Brugada syndrome. In particular, quinidine therapy was effective in preventing spontaneous ventricular fibrillation in patients with inducible ventricular fibrillation and in preventing recurrence of ventricular fibrillation during arrhythmic storm. Thus, such therapy is certainly useful in symptomatic patients and may be considered in asymptomatic patients with a spontaneous type 1 ECG, particularly those with ecg features of increased risk such as QRS fragmentation. However, the possible side effects of this investigational therapy, such as diarrhoea, thrombocytopenia and possible liver damage, should be considered.
MANAGEMENT OF ASYMPTOMATIC SUBJECTS WITH ECG BRUGADA
WHATEVER IT TAKES
The feeling today is that many physicians and patients are willing to do everything possible, rather than trying to do the best, to avoid the possibility, however remote, of cardiac arrest, even though this may involve the non-negligible risk of potentially serious complications related to the therapeutic procedures themselves. For this reason, at present, one in two Brugada patients receiving a defibrillator implant is completely asymptomatic, and one in five patients receiving a defibrillator implant is not only asymptomatic but does not even have a spontaneous type 1 Brugada ECG, even though it is known that the possibility of arrhythmic events in this category of patients is particularly rare. Similarly, it is not surprising that an increasing number of asymptomatic patients choose to undergo an ablation procedure in the hope of curing their disease.
WHATEVER IS BEST
A person with an asymptomatic Brugada pattern, without additional risk factors, should be able to lead a normal life. As a precautionary measure, it is prudent to suggest avoiding the drugs indicated at www.brugadadrugs.org, and to treat the fever aggressively, but not to be anxious or consider oneself ‘ill’. Sporting activity should not be discouraged as there is no evidence that physical activity and/or sport have an arrhythmogenic effect. On the contrary, the catecholamine increase has a protective effect. It is hypothesised that the training-induced increase in vagal tone may theoretically promote nocturnal arrhythmias, but there is no evidence for this. It is also important that this category of patients is properly informed so that they understand that the potential arrhythmic risk is very low but not zero, and that we would all like to bring this risk to zero, but what price are we willing to pay, in terms of adverse events directly caused by preventive therapies to achieve this goal?
The article has provided a series of objective elements that I hope will provide food for thought and form the basis for further study and analysis that will enable all of you to attain the degree of awareness that is useful and necessary to guide you in making the best and most appropriate evaluations and choices for you, whatever they may be, in the context of a complete and correct dialogue with your treatment centres/medical specialists.
This article is inspired by the work of Viskin and Delise:
Sami Viskin, Radiofrequency Ablation of Asymptomatic Brugada Syndrome. Don’t Go Burning My Heart. Circulation. 2018;137:1883–1884
Pietro Delise, Dieci quesiti sulla sindrome di Brugada. G Ital Cardiol 2017;18(11):754-759