Dear collegues I have two twins 8 yo with AB block 1-2 (type 1), wihout syncope in history (both active young athletes). Molecular Gene analyse a R214Q variant were detected in exon 3A of SCN1Bb in both brothers and his mother (without AVB and syncope). What your mention about prognosis, PCM implantation and follow up.
Sincerely yours
Dr.Leonid Makarov Ph.D.
Mutations in the SCN1Bb with a R214Q variant may code for either Brugada Syndrome (1 in 22) and/or early onset of atrial fibrillation (2 in 192). But in both cohorts, the Age of the patients were above 38 years. Otherwise, the SCN1Bb gene may underly a certain type of Long QT syndrome. Obviously it increases the susceptibility for arrythmias.
Here you are reporting of twins with AV block 1-2 aged 8 years. The description of the geetic codeing is quite new and there are no follow ups available regarding patients with this certain mutation.
As being a ped. cardiologist I would recommend to be restrictive in sports, do excersise testing and a flecainid testing, but no prothylactic AICD and see tzhe children on a yearly Basis with holter ECGs.
DOI: http://dx.doi.org/10.1016/j.hrthm.2011.12.005
There is a link to an interesting paper...
Dear dr. Kamhman, thank you very much for your mention. Really in papers Holst (Can J Cardiol 2012) , Olesen M (Heart Rhythm 2012) were described this mutation in adult pta with BrS, AF. But in observation of the Hu D. (Heart Rhythm 2012) was revealed one child 4 month who died from SIDS with the same mutation. I think clinical polymorphism of this mutation not clear complectly at the present time.
During exercise test (tredmil test) PR interval shortening in one brother and was normal in other.
Thank you another time.