[SCD-FORUM] 124E Question to Dr. Andres Peres Riera about atrial standstill. Dr. Zaklyazminskaya

[SCD Symposium]

Dear Dr. Andres Riera!
We have 1 female patient, 43 years old, with isolated right atrial
standstill, now pacemaker was implanted  (Ebstein's anomaly, Emery-Dreifuss
MD, Kugelberg-Welander and amiloidosis were excluded). Proband's mother died
suddenly at 38 y.o. We screened some promotors fragments, coding sequences
and adjacent intronic area of Cx40, SCN5A, LMNA. Rare polymorphisms
described previously by your citations was founded but none mutations in
SCN5A or LMNA genes. What do you think about predictive value of
identification this Cx40 without SCN5A mutations? Proband insist upon doing
testing to her two daughters (dizygotic twins 16 years old) but I have some
doubts. Have you  information about any preventive medication for this
condition?
Sincerely,
Dr. Elena Zaklyazminskaya, M.D., Ph.D.
Russian Research Center for Medical Genetics,
1, Moskvorechie, Moscow, Russia, 115478
+7 495 5043166
+7 495 3248110
dnalab at rol.ru
www.dnalab.ru