Its lil long... Very informative.. Ive met Dr.Santinni with Dr.Krahn my first stay, 1 1/2yrs ago... the phone call I made to them last month, I was informed they have concerns of when I sleep, which kinda leans towards LQTS 3, but!! Ive shown similar symptoms towards LQTS 2?? LQTS 3 shows the variant mutated gene I have SCN5A my sequence reads... cDNA as - c.5185 G>A, my variant is - p.Asp1729Asn, this variant reads as (D1729N) which is classified as likely disease causing... this variant is the one Ive mentioned that has never been seen before. This particular mutation increases risk of cardiac events triggered at rest or sleep... So, no surprise I have trouble sleeping because Im afraid to, I know for a fact my heart stops beating during sleep... This variant is a strong candidate for a pathogenic mutation, the possibility that it can be benign cannot be ruled out either. This information I just shared here is from, Gene Dx DNA DIAGNOSTICS EXPERTS, GAITHERSBURG MARYLAND, USA... & Dr. Andrew Krahn, UBC Arrhythmia Clinic St. Pauls Hospital Vancouver B.C.
Posted on: Tue, 06 Jan 2015 03:20:12 +0000
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