Long shot--Anyone have or know anyone with Brugada's Syndrome

[vludmilla]

My FIL was just diagnosed with this very rare heart arrhthymia. It causes sudden cardiac death unless a cardiac defibrillator is implanted. It is also genetic. I figure that most likely, no one here is affected, but in case I'm wrong, I'd love to hear from you. DH and DD have a 50/50 chance of having it too. I'm trying to stay calm but I'm very nervous.

[JTsMom]

:hug: That must be really scary. I don't know anyone who has Brugada's Syndrome, but I couldn't read and not respond. What DS has is very different than this, but if I can answer any questions about cardiology stuff in general, please let me know. I did a quick google search, and I see this is a really recently discovered syndrome, and I just wanted to say the leaps and bounds they are making with cardiology are amazing. New research is constantly coming out.

Sending good thoughts your way.

[ThreeofUs]

Just wanted to send some support. Brugada is one of those rare genetic anomalies that can be very very scary. If your FIL was just diagnosed, it might be a recent mutation.

One tiny ray of hope is that your DD is statistically, at least, unlikely to have it. From what little I know, this affects predominantly males....

Best of luck to you all.

[vludmilla]

Thank you both so much for replying. I am scared but trying to take each day at a time and be supportive to my IL's and DH. I keep telling myself that, even if DH/DD are affected, it is unlikely anything will happen in the time it takes us to determine if they are affected. My FIL, who is usually such a smart, reasonable, analytical guy (math/computer sci professor) doesn't want to do the genetic testing. Apparently, his reason is that only 20-25% of genetic mutations are detected. I think he is having a difficult time accepting this diagnosis and can't deal with thinking about a genetic mutation that could have been passed on to his 5 kids and 5 grandkids. He won't even have the implantation right away. He is going home today with a life vest that will monitor his heart and defibrillate if needed. He says he needs time to consider his options (there aren't any really).

Ivy,
What does it mean to have a spontaneous mutation? Would that mean that the genes he originally passed on to his kids were unmutated and therefore only he would be affected?

Thanks, again, both of you.
-Victoria

[ThreeofUs]

Victoria, I'm PM'ing you.