Negative Ajmaline Test?

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Negative Ajmaline Test?

Postby lizzie72 » Sat Feb 27, 2016 11:12 pm

Hello

My sister has Brugada, type1 shown after provocation during Ajmaline test.

I had the test and it came out negative.

My cardiologist told me I don't have Brugada and there is no need for my kids to see him.

Ive since heard this could not be true. I may well have the gene.

My cardiologist has closed my case.

What do I do now? He wont test for the gene as its only apparent in 30% and its too expensive. (Im in the UK).

Can anyone advise?

Thank you, Liz x
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Re: Negative Ajmaline Test?

Postby Chas » Wed Mar 09, 2016 11:09 am

Hello Lizzie and welcome to the forum.

The Ajmaline test is not foolproof but will find most cases of BrS (from memory over 95%). If there were no changes to your ECG it is unlikely that any would show up in your children either. If your kids are young this is another factor to take into consideration as their ECG does not settle into their adult response until about 12 so Ajmaline testing would not be be conclusive before then. Gene testing is not a good screening method unless they have identified the faulty gene affecting your family and, as you cardiologist says, a faulty gene can only be found in around 30% of cases. Lastly the only treatment is an ICD and this is only fitted in people known to be at high risk because they have had an "event". This is because the surgery has its own risks (and is expensive).

If a gene is found in your family in the future you could ask for screening and if you or your children show any signs of BrS you should of course go back to your doctor, but you and your kids are probably at very, very low risk. Even if you were diagnosed with asymptomatic, low risk BrS the best you could do is avoid the known risk factors (see www.brugadadrugs.org) and a diagnoses of BrS would have implications on insurance etc.

Nothing is 100% certain in life, and BrS is not to be taken lightly, but I think that you can take considerable comfort from your negative Ajmaline test.

Please remember that we are not doctors so check with your doctor.

Chas
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Re: Negative Ajmaline Test?

Postby lizzie72 » Wed Mar 09, 2016 11:55 am

Hello

Thank you for your reply.

I just feel pretty let down in the fact that Im in a Facebook Brugada group and most of these people have family gene testing. I feel my cardiologist has dismissed us.

I see that Brugada is "incomplete penetrance", so Im worried that I may still have passed it on to my kids. They are 14, 8 and 6.

I thought the kids would at least have an ecg.

My cousin lives in Belgium and she also tested negative. Her cardiologist will give her kids an ecg every year and keep an eye on them.

My GP doesnt even know what Brugada is!

Ive contacted the British Heart Foundation and they say we still should have gene testing as I still could have passed it on.

Its a worrisome time, as Ive done all the research and now my sister has to get the ball rolling as she is positive. (Although I dont think she will as she has the same cardiologist and he is adamant it is not necessary. She is positive, so she has her answer.)

I feel Im in limbo.

Kind Regards

Liz
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Re: Negative Ajmaline Test?

Postby nexus123 » Fri Mar 11, 2016 12:43 am

Hi Lizzie

In terms of family gene testing this is still unreliable. For example, I think in only about 20 or 30% of Brugada patients do they find a genetic variant which is linked to Brugada Syndrome. In other words they know (people like myself) have Brugada based on either spontaneous appearance on an ECG or from an Ajmaline challenge however most of the time they can't find any known genetic mutation linked to Brugada.

I can't answer your question about if it is possible that you could pass on Brugada Syndrome to your children. This is a question for a geneticist.

Once your kids are old enough you could see a different cardiologist and see if they will arrange for an Ajmaline challenges to be done?
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