[SCD-FORUM] 26E RE: A children with LQTS. Dr. Peter Schwartz

[SCD Symposium]

 From what I have seen, this little boy from Iran almost certainly  
suffers
from the Jervell and Lange-Nielsen syndrome. Based on the clinical
description the use of an ICD is rational, while continuing maximal  
therapy
with beta-blockers to reduce risks of shock. I would suggest that the
physicians in charge of this little boy read our extensive study on J-LN
syndrome published in Circulation February 14 2006, which was based  
on 186
such patients. I am available to do genotyping of this child free of
charge.
Peter J. Schwartz
Professor  Chairman
Dept. of Cardiology
University of Pavia
Pavia, Italy

--
Dr. Sergio Dubner
President of Scientific Committee

Dr. Edgardo Schapachnik
President of Steering Committee


>
> 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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