[SCD-FORUM] 19E RE：一例长QT综合征患儿－Zaklyazminskya 医师

[SCD Symposium]

尊敬的Hormoz Alizadeh 医师！
我认为你关于该患儿需植入ICD的观点非常正确。该男 
孩很可能有KCNQ1 或 KCNE1 等位基因同时受累所致的 
Jervell 和Lange-Nielsen综合征的表现。我们研究中心对大 
约15例患者离子通道基因的两个独立突变信息进行处 
理，这些患者来自接受DNA诊断或基因咨询的家系。其 
中一些表现为耳聋和QT间期延长，但是另一些仅表现 
为长QT综合征或病窦＋Brugada综合征。未植入心脏装置 
（ICD或者病窦综合征时起搏器）患者中，无一人能活 
过20岁。目前我们认为，一个以上的离子通道基因突变 
(置换)是心脏猝死的独立危险因素。我们建议对这一 
家系进行遗传分析和基因诊断。
致
Elena Zaklyazminskya,医师，MD, PhD
俄罗斯医学基因研究中心
――
Sergio Dubner博士

科委会主席

Edgardo Schapachnik博士

组委会主席

张欣译 王玲洁校

19E RE: A children with LQTS. Dr. Zaklyazminskya
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