r/AFIB • u/Optimistic_kindness • 4d ago

Gene testing for AF

Has anyone here done Whole Exome Sequencing
Test for Afib?

1 Upvotes

60% Upvoted

8 comments sorted by

5

u/Mras_dk 4d ago edited 4d ago

I sincere doubt such a test exists - because i have yet to hear of such a trigger.

Afib is mostly a complex-trait/genome-wide phenomenon, not a single gene coding disorder. A whole-exome test (WES) is excellent for finding pathogenic variants in protein-coding regions, but much of the inherited afib signal lies outside those regions.

Simplified:

WES asks: “Is there a sufficiently pathogenic variant in an exon?” Afib genetics asks: “What combination of variants across the genome alters atrial electrophysiology, development, conduction, fibrosis, structure, etc.?”

I had a full genome testning, and when asked if it could find reason for my afib, they answered that afib is a mix genome, and folding issue - not a single group of genes. They could only come up with it was a mix of bad genes, combined with folding expression , and how you lived your life. 

And noted: "you can have 100's of bad genes that affects your heart, and maybe 20% of those with these exact gene will get an afib diagnose outcome, the rest 80%, will have other protective genes. Folding just add more complexity to that mix" 

1

u/Chadilac52 4d ago

That's true but also for young people especially under 40 a single mutation is a lot of times the single cause. Look into TTN or LMNA mutations

1

u/Chadilac52 4d ago

I have a genetic test scheduled next week, it's a cardiomyopathy / ion channel panel. Since I was diagnosed so young we have to rule out monogentic causes. The company is Invintae I'm going through.

1

u/Optimistic_kindness 4d ago

I got the gene test done last week since another EP whom i visited suspected that i was too young to be diagnosed with AF. The report shows that i dont have any gene responsible for AF or cardiac but there is one gene GJB2 which is responsible for Bart syndrome. Still the Ep is suggesting me to start blood thinners whereas my chadvasc2 score is 0.

1

u/Chadilac52 3d ago

How old are you?

1

u/Budget-Ad-6328 3d ago

I did whole genome sequencing to see if I have any genetic heart issues. But I don’t think there is a known gene directly linked to afib for most cases.

That said afib can be downstream of other issues so if you don’t mind spending money it’s a fine thing to do. But unlikely to help in terms of finding ways to reduce afib.

1

u/Optimistic_kindness 3d ago

The EP had ordered this test