So, I have been getting a few mails from the doctors and some patients to tell them about this genetically inherited condition, that may kill the bearer during sleep.
Now, be informed that the following information is best utilised by the treating or researching doctors and may or may not be very useful to the patients, unless of course, they want to just know what they are suffering from. Having said that, it is best not to take matters in your hand (the patients) and instead rely on a specialist doctor.
So what is the Brugada syndrome? A syndrome that has caught the fancy of the doctors and the patients- the world over- for killing the patient suddenly during sleep i.e. the patient goes to sleep and does not wake up.
I’m here to give my salient points regarding the syndrome, please be informed that I choose not to divulge the whole literature on it, because that would only make the topic exhaustive and boring, of a very interesting subject, anybody who would want to know a little more about the syndrome can mail me on my email that shall be provided at the end of the article. These are just the salient points on the topic.
So here goes:
Brugada syndrome is named after the Spanish cardiologists Pedro and Josep Brugada who described the condition in 1992, although the association between the characteristic ECG pattern and sudden cardiac death had been reported in 1989.
It is an inherited autosomal dominant condition.
It is mostly caused due to a loss of function SCN5A mutation, but it can also be inherited due to a missense mutation or due to a loss of function of the LTCC alpha and beta subunit encoded CACN 1C gene.
It is most commonly seen in the South-East Asian males, even though it can occur in all races and in the other gender too, but it certainly has a predilection towards males and south-east asians.
Brugada syndrome causes – Ventricular tachycardia, syncope or sudden cardiac death, while the patient sleeps.
So, the trigger is usually sleep, while the fear is of ventricular tachycardia, syncope or sudden cardiac death.
What are the ECG changes that can give a hint towards the condition?
- A pseudo-RBBB (Right bundle branch block) like pattern
- ST segment elevation in V1-V4 with charactertic ‘coved or saddle back’ appearance, leading to…
- Polymorphic ventricular tachycardia.
There are different types of Brugada syndrome and they can be broadly divided into-
|BRS type 1||BRS type 2||BRS type 3|
|J wave amplitude||>2mm||>2mm||>2mm|
|ST-T configuration||coved||saddle back||saddle back|
So what is the management salient points?
We can diagnose Brugada syndrome with the help of a provocative test by using Procainamide.
Management- Ablation/ Quinidine.
If there is a presence of a VT storm- low dose isoproterenol has a role.
The treatment of choice is- ICD insertion.
So, I hope this helped you a bit with the brugada syndrome phenotype, of course, these are just a few salient points, feel free to ask me a question or add to the topic.
email me at- firstname.lastname@example.org
Have a great day !