[SCD-FORUM] 19E RE: A children with LQTS. Dr. Zaklyazminskya

[SCD Symposium]

Dear Dr.  Hormoz Alizadeh !
I think that you are absolutely right accounting this patient  as a
candidate for ICD implantation. Most likely this boy suffers from  
Jervell and Lange-Nielsen
syndrome caused both affected alleles of KCNQ1 or KCNE1 genes. In our
Research Center we dispose of the information about 15 patients with two
independent mutations in ionic channel genes from the families who  
applied
DNA Diagnostics or genetic counselling. Some of them had deafness and QT
interval prolongation, but the other had only LQTS or SSS+BrS. Nobody
survived the age of 20 years without implanted devices (ICD or PM in the
case of SSS). Now,  we suppose that the revelation of more than one  
mutation
in ionic channel genes (trans-position) is an independent risk factor of
SCD.
We recommend genetic counselling and DNA diagnostics for the families.
Sincerely,
Dr. Elena Zaklyazminskya, MD, PhD
Russian Research Center for Medical Genetics

dnalab at rol.ru

--
Dr. Sergio Dubner
President of Scientific Committee

Dr. Edgardo Schapachnik
President of Steering Committee


>
> Dear Dr. Dubner,
>
> Thank you and your colleagues for this nice online symposium.
> Recently, a
> 5-year-old children with no evidence of structural heart disease
> referred to
> our center for evaluation of syncope. He also had history of  
> congenital
> deafness. One of the episodes of syncope occurred 48-hrs after
> betablocker
> withdrawal and second episodes on 10 mg propranolol tid. Surface ECG
> revealed a QTc=600 ms and heart rate of 55 bpm. We think that onset in
> childhood, congenital deafness and QTc=600 would place this patient at
> higher risk for cardiac events and therefore a candidate for ICD
> implantation. However, small body size and future risk of  
> inappropriate
> therapy with its devastating consequences are unfavorable aspects  
> of ICD
> implantation. Our limitimg factors for increase in dose of
> betablocker is
> low baseline hear rate. What is recommendation of scientific
> committee of
> SCD symposium regarding our patient?
>
> Thank you in advance for your recommendation.
>
> Regards,
>
> Majid Haghjoo,MD
> Department of Pacemaker and Electrophysiology
> Rajaie Cardiovascular Medical and Research Center
> Tel: +98 21 2392 2931
> Fax:+98 21 2204 8174
> Tehran, Iran
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