Purkinje-related ventricular fibrillation associated with a homozygous H558R polymorphism in the sodium channel SCN5A gene.
نویسندگان
چکیده
Christopher Reithmann1*, Britt-Maria Beckmann2, and Stefan Kääb2 Medizinische Klinik I, Helios Klinikum München-West, Akademisches Lehrkrankenhaus der Universität München, Steinerweg 5, 81241 München, Germany; and Medizinische Klinik I, Klinikum Grosshadern, Ludwig-Maximilians Universität München, DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, Munich, Germany * Corresponding author. Tel: +49 89 8892 2307; fax: +49 89 8892 2274, E-mail address: [email protected]
منابع مشابه
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
BACKGROUND Brugada syndrome is associated with a high risk of sudden cardiac death and is caused by mutations in the cardiac voltage-gated sodium channel gene. Previously, the R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome. In a family carrying the R282H-SCN5A mutation, an asymptomatic individual had a common H558R-SCN5A polymorphism and the mut...
متن کاملH558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients.
Keshan disease (KSD), a potentially fatal cardiomyopathy, has very high incidence in some selenium-poor regions of China. KSD may be accompanied with a variety of arrhythmia, which is associated with mutations in the gene coding for cardiac voltage-gated sodium channel (SCN5A). The molecular mechanism of KSD is still largely obscure. We aimed to determine the association between the H558R polym...
متن کاملMutational analysis of SCN5A gene in long QT syndrome
The SCN5A gene encodes for the INa channel implicated in long QT syndrome type-3 (LQTS-type-3). Clinical symptoms of this type are lethal as most patients had a sudden death during sleep. Screening of SCN5A in South Indian cohort by PCR-SSCP analyses revealed five polymorphisms - A29A (exon-2), H558R (exon-12), E1061E and S1074R (exon-17) and IVS25 + 65G > A (exon-25) respectively. In-silico an...
متن کامل[Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group].
Mutations in voltage-gated sodium channel type (SCN5A) may evoke severe, life-threatening disturbances in cardiac rhythm, including long QT syndrome, idiopathic ventricular fibrillation (Brugada Syndrome), and isolated cardiac conduction disease. There is increasing awareness of the role of common polymorphisms in altering gene function and in susceptibility to diseases. The aim of the present ...
متن کاملFurther Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect
BACKGROUND Phenotypic overlap of type 3 long QT syndrome (LQT3), Brugada syndrome (BrS), cardiac conduction disease (CCD), and sinus node dysfunction (SND) is observed with SCN5A mutations. SCN5A-E1784K is the most common mutation associated with BrS and LQTS3. The present study examines the genotype-phenotype relationship in a large family carrying SCN5A-E1784K and SCN5A-H558R polymorphism. ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
دوره 18 6 شماره
صفحات -
تاریخ انتشار 2016