Brugada Syndrome
The association

The Brugada Syndrome

This article was written in collaboration with Paris’ center of reference for hereditary cardiac diseases (MD Philippe Charron and MD Isabelle Denjoy) and with Nantes’ center of reference for the care of rhythmic hereditary diseases (MD Vincent Probst).

The Pathology

The Brugada syndrome is one of the syndromes responsible for ventricular rhythm disorders. The Brugada brothers first described it in 1992.

The syndrome is characterized by an abnormal electrocardiogram (ECG) pattern associated with an increased risk of sudden death by ventricular fibrillation.

Typical ECG anomalies are characterized by a rise of the ST segment on at least two successive right precordial lead associated with an atypical right bundle-block branch pattern.

Three types are described (I, II and III) and only a type I ECG is considered as a diagnosis. This pathology occurs in a  structurally healthy heart. The dysfunction is purely electrical.

Frequency of the pathology

The Brugada syndrome is responsible for 4% to 12% of cardiac sudden deaths and almost 20% of these occur on a healthy heart.

It affects one individual out of 2000 approximately.

Every patient presenting an electrocardiographic anomaly will not necessarily experience symptoms, or sudden death.

The symptoms

Most patients who show the electrical anomaly do not experience any symptoms. When these are described, they are experienced as an acceleration of cardiac rhythm. The symptoms are intermittent and very rare. Sometimes they take the form of faintness, with or without loss of consciousness, occasionally with spasms. 

The first symptoms usually appear around the age of 40 on average, with a very heterogeneous distribution (from 2 days old to 84 years old).

Rhythm disorders occur at rest or during the night and sudden death affects men more frequently than women.

Fever encourages the occurrence of rhythm disorders.

Genetic transmission

The Brugada syndrome is a hereditary rhythm disorder. Its pattern of inheritance is a autosomal dominant pattern, which means that the mutated gene (abnormal) has a 50% likelihood of being inherited by each child, regardless of gender.

The main gene associated with this pathology is the gene SCN5A which codes for the cardiac sodium channel. This channel plays a major role in the heart’s electrical activity. The mutations of this gene cause an alteration of the functionality of the sodium channel and lead to an abnormal electrical activity which  can degenerate into a ventricular fibrillation.

The mutations of this gene are found in 15% to 25% of Brugada syndrome cases.

Clinical diagnosis

Basic ECG is sufficient to establish a diagnosis of the Brugada syndrome when it is typical (that is to say a “spontaneous type I”).

Electrical anomalies are variable in the course of time, which makes it difficult to diagnosis.

When there is suspicion of Brugada syndrome, a pharmacological test by intravenous injection of a drug such as Ajmaline or Flecainide may be proposed. This test allows to unmask the type I pattern and thus confirms or rules out the diagnosis. It is carried out during a short hospitalization in cardiology under constant ECG monitoring.

Of course, other cardiac pathologies will need to be eliminated as possible causes and an echography will be needed to ensure “normality” of the cardiac muscle.

Genetic test

It is prescribed in one of the reference centers or competence centers.

It consists of a blood test followed by DNA extraction. Initially, the analysis will seek a mutation in the gene SCN5A. Given that only 15% to 25% of people affected by the Brugada syndrome show a mutation of this gene, which means that if the test result is “negative” (without an identified mutation) then the mutation affects another gene not known to this day. Further analysis on other genes is sometimes offered, especially as part of research efforts. 

When the test result is “positive”, that is to say a mutation was identified, it is then simple to look for it among relatives in order to know if they carry the mutation or not. In this situation the genetic test makes for an important diagnosis input to guide cardiologic monitoring. However, in the case of an ill patient, the genetic test does not alter clinical care.  

It should be noted that in the future, genetics’ research should provide with discoveries of new genes implicated in the disease.

Rhythmic rhythm

Some patients may experience a complication of the disease such as ventricular arrhythmia with ventricular fibrillation (fast and anarchical cardiac rhythm) or  sudden death.

This rhythmic risk is difficult to assess. The elements taken into account for the rosk evaluation are the symptoms (blackout, syncope, recovered sudden death) and the existence of a spontaneous type I pattern.

A study showed that the likelihood of occurrence of an arrhythmia is of 7.7% with patients having already recovered from a sudden death, of 1.9% with patients showing a history of syncope and of 0.5% for symptomless patient.

Treatments

As of  today, no drug has shown complete efficacy in preventing sudden death associated with the Brugada syndrome. Nevertheless, some studies show that Quinidine or Hydroquinidine could lower the risk of ventricular fibrillation. However, drug therapies alone do not seem sufficiently effective and the insertion of an implantable cardioverter-defibrillator (ICD) is proposed to symptomatic patients (showing a history of syncope).

This device is implanted under the skin and is usually placed under the left clavicle (collarbone). Its goal is to monitor the heart’s electrical activity and to administer an electrical shock in case of a serious ventricular rhythm disorder. The device is connected to the heart by a probe.

Asymptomatic patients show a much lower risk of sudden death. In a majority of cases it will not be necessary to insert  an implantable cardioverter-defibrillator. An ECG will be carried out every year and any occurrence of a symptom should be brought to a cardiologist’s attention.

Patients carrying an ICD should be monitored in consultation every six months. They should quickly consult their cardiologist in case their device delivers a shock.

In any case fever should be lowered by an antipyretic treatment.

Intense physical activity is also limited in order to avoid brutal fainting attacks.

Pregnancy

Pregnancy is possible. Pregnant patients carrying an ICD should be monitored more closely.

The disease and children

With young children ECG is difficult to interpret. With some children it can be performed at a young age whereas for others at puberty (in the absence of symptoms). However, the electrocardiographic pattern being inconsistent it is necessary to repeat the examination on a regular basis.

The absence of a typical pattern does not permanently exclude the existence of the pathology. A pharmacological test is offered from the age of 15 in order to establish final diagnosis.

Contraindicated drugs

A certain number of drugs are contraindicated for patients with the Brugada syndrome. A list of these medicines is available  on www.brugadadrugs.org ; on www.cardiogen.aphp.fr ; or on the website http://www.chu-nantes.fr/le-syndrome-de-brugada-medicaments-contre-indiques-27110.kjsp.

Some drugs can sometimes be adapted in a patient’s particular situation and in any case should be discussed with the treating cardiologist. 


Creation date : 20/03/2012 17:08
Last update : 05/05/2012 22:46
Category : Brugada Syndrome - The pathology
Page read 17116 times
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Reaction #3 

by phil5010 07/01/2018 10:47

Bonjour je suis un homme de 54 ans il y a une dizaine d années suite à une pneumonie mal soignée j ai eu un épisode de forte fièvre suivi de détresse respiratoire, parti aux urgences de Cherbourg-Octeville suite à malaise et arrêt, cherbourg me fait une piqûre (d'adré je crois) aggravation des symptômes, cher bourg ne comprenant plus rien, m envoie en catastrophe en Réa à Caen (très en colère pour la piqûre qui ne doit pas se faire quand il y a de la fièvre) , Caen diagnostique un brugada avéré en v1 v2 avec ECG (que j ai conservé ) Mon père 74 ans était décédé 15 jours avant à cherbourg incapable d avoir pu diagnostiquer ce que sans doute j ai hérité de lui aujourd'hui, aprés une semaine de Réa et un protocole ESVP bon, je ressort mais affaibli amaigri, (moins 14 k)à jamais amputé dans ma chair de la disparition de mon père et encore en colère aujourd'hui devant autant de médiocrité hospitalière 6 mois pour revenir au boulot, visite chez mon cardio a cherbourg qui confiant me fait un ECG puis me dit « ok si ça ne va pas vous revenez me voir mais pas de visite tous les ans » ?? apres deux ans inquiet je redemande un ECG et lui demande pour mes proches il me dit » tout va bien et pour vos proches les examens de depistage sont dangereux » !! j etais soudeur et j ai pris des risques toutes ces années faisant l autruche ayant peur de perdre mon boulot l appareil étant incompatible avec mon métier, aujourd'hui je me suis reconverti(l avantage des grosses boites)car des douleurs dans l’épaule, le bras, la main, les doigts, gauche ne me permettaient plus de souder. Je vais passer un irm au SCM de coutances Dr Hadj Rabia qui diagnostique seulement de l arthrose comme mon généraliste d'ailleurs, mais les douleurs et la paralysie me font aller voir le docteur Besnier qui lui voit une grosse hernie ext en c6 c7 comme le Dr Laurence à coutances et qui me dirige vers le Dr Camille di palma de l équipe du Dr emry à Caen le 24 janvier prochain il en ressort qu une infiltration est impossible les produits étant incompatibles avec un brugada mais qu une opération si il y a ne se ferait qu après la pose d un défibrillateur , aujourd'hui je ne soude plus mais me suis reconverti dans la prise de paramètres de soudage donc toujours à proximité des générateurs et torches (le calcul du champ magnétique et possible mais flou et qu en est t il de l électricité statique d une couverture en nylon ou d un téléphone cellulaire ? ) avec cet appareil je perdrai déjà tous mes permis lourd, super lourd, transport en commun, taxi, ambulance, j ai peur de perdre mon boulot !,,,et je ne vous parle même pas du prêt imo et des assurances,,,, aujourd'hui mes questions sont
-que dois je faire pour protéger mes proches, fils, frère et sœur, neveu et nièce, leurs enfants,,,,,, ? Le cardiologue m ayant dit que le dépistage était dangereux !! -dois je impérativement me faire poser cet appareil ? -dois je me rapprocher du Dr charron à la salle pé ? -j ai entendu parler de la micro endoscopie (assez miraculeuse) qu en est il ? -y a t il un statut MDPH quelconque que je pourrais réclamer pour me protéger ou m aider ? -pourrais je encore souder à la maison avec des gants en caoutchouc sous mes gants cuir ?
Dites moi si vous avez le moindre tuyau sur de nouvelles techniques ou la prise en charge par la secu ou mdph je ne peux même pas rassurer julien car je suis aussi seul que lui devant cette m,,,e philippe pinel,ph@wanadoo,fr

Reaction #2 

by phil50120 07/01/2018 08:44

xxxxxx

Reaction #1 

by Julien 28/03/2017 18:39

Bonjour à tous,

On viens de me diagnostiquer le syndrome de Brugada, ayant 28ans, je prends un peu peur en voyant tout les articles sur le net.
La maladie s'est manifestée dans un premier temps par des convulsion avec pertes de connaissances puis quelques mois après j'ai subi un arrêt cardiaque, le tout s'est enchainé en l'espace de 1an.
Ma cardiologue, rassurante me fais part de solution (me mettre une pile reliée à mon coeur pour stabiliser les arythmies, ou que le coeur s'emballe).
Est ce que certains d'entre vous ont la même chose que moi même, j'ai surtout besoin d'être rassurer et de voir comment vous faites pour vivre avec cette épée de damoclès au dessus de notre tête, est ce la seule solution? Concernant ceux qui prennent un traitement quels sont les effets secondaire??
Je vous remercie par avance pour l'intention que vous mettrez à la lecture de ce post.
Bien à vous,

Reaction #3 

by ASM92 13/05/2014 18:23

bravo pour cet article clair et lisible par tous. Pas besoin d etre cardiologue pour le comprendre.Neanmois, n y a t il rien de nouveau depuis 2012 ? nouvelles eudes et nouvelles statistiques?Mille Merci Docteurs !!!! 

Reaction #2 

by abqtl 29/04/2012 10:04

Bravo Blandine!Quel chemin parcouru en si peu de temps!Bon courage et à bientôt

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