For carriers
If you just got the result and it is late at night.
No jargon on this page. If you have been handed a genetics report you cannot read, this is what the words mean and what is worth asking.
The condition, in one paragraph
Brugada syndrome affects the heart’s electrical system, not its structure. The heart beats because an electrical signal travels through it in an organised wave, and in this condition that signal can be weaker or slower in one region, which under some circumstances lets the rhythm become disorganised. Because the fault is electrical, the heart usually looks normal on a scan, and a normal echocardiogram does not rule it out. It is identified from a specific pattern on an electrocardiogram, which sometimes appears only during a fever or after a particular medication.
Two practical things follow, and both are worth raising with your own doctor rather than acting on from a website. Fever is a recognised trigger, so it is worth telling anyone treating you for an illness that you carry this variant. And some medications are known to bring out the pattern. Published lists exist and a specialist can check them against anything you take.
What the report is saying
A gene is a set of instructions. SCN5A is the instruction set for a part of the heart that starts each beat’s electrical signal. A variant is a spelling difference in that instruction set. Everyone has thousands of them and almost all are harmless.
Your report will classify the variant. The words usually mean:
| What it says | What it means |
|---|---|
| Pathogenic, or likely pathogenic | There is good evidence this spelling difference causes a problem. |
| Variant of uncertain significance, often shortened to VUS | Nobody knows yet. This is not bad news. It is an absence of information, and it is the most common result. |
| Conflicting | Different laboratories filed different opinions. Worth asking whether the disagreement is current or whether one submission is simply old. |
| Benign, or likely benign | There is good evidence it does not cause a problem. |
Two things worth knowing
Carrying a variant is not the same as having the condition. Most people who carry a variant like this never develop symptoms. In my own family the same variant is present in my father, who has never had a problem from it.
Uncertain does not mean dangerous. A variant of uncertain significance means the evidence has not been gathered, not that it is being withheld from you.
If you were told you do not need a device
Many people who carry a variant like this are told they do not meet the criteria for an implanted defibrillator, and are offered monitoring instead. That can feel like being handed a frightening piece of news and then nothing to do about it.
Two things are worth saying plainly. That decision follows the current guidelines and is not a judgement that your situation does not matter. And a device is not a treatment for the condition in any case: it interrupts a dangerous rhythm once it has already begun, and does nothing to the underlying channel.
That gap is the reason the research on this site exists. Every route described here would act on the cause rather than the emergency, and the people it would be developed for are largely the people who do not qualify for a device. None of it is close to a treatment today, and the limitations page is honest about how far away it is.
What to ask an electrophysiologist
An electrophysiologist is a cardiologist who specialises in the heart’s electrical system. These questions tend to get useful answers:
Where the reliable information is
For the public record on a specific variant, ClinVar is the database laboratories file into, and it is free to search. ClinVar entry for this variant, VCV000067780
A genetic counsellor is the person whose actual job is explaining this, and asking to see one is a reasonable request.
One more thing
I built this because I got the same result and could not read anything I found. If the science pages are useful to you, they are there. If they are not, that is fine too. The single most useful thing on this site for most people is the list of questions above.