Effects of Flecainide in Patients With New SCN5A Mutation : Mutation-Specific Therapy for Long-QT Syndrome?
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چکیده
منابع مشابه
Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome?
BACKGROUND Mutations in the cardiac sodium channel gene (SCN5A) can cause one variant of the congenital long-QT syndrome. The effects of some of these mutations on the alpha-subunit channel properties can be blocked by type Ib antiarrhythmic drugs. Recently, we have described a new SCN5A mutation (D1790G) that affects the channel properties in a manner suggesting that sodium blockers of the Ib ...
متن کاملFlecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A.
BACKGROUND Mutations in SCN5A can result in both long QT type 3 (LQT3) and Brugada syndrome (BrS), and a few mutations have been found to have an overlapping phenotype. Long QT syndrome is characterized by prolonged QT interval, and a prerequisite for a BrS diagnosis is ST elevation in the right precordial leads of the electrocardiogram. METHODS AND RESULTS In a Danish family suffering from l...
متن کاملMutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.
Long QT syndrome (LQTS) is a genetic cardiac disease. Gene mutation affects the structure or function of ion channels that are associated with a high risk of sudden death. The goal of this study was to determine the frequency of KCNQ1, KCNH2, and SCN5A mutations in LQTS in a Taiwanese population. Genomic DNA was extracted from peripheral blood samples obtained from 5 patients with LQTS and the ...
متن کاملTrafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3.
RATIONALE Sodium channel blockers are used as gene-specific treatments in long-QT syndrome type 3, which is caused by mutations in the sodium channel gene (SCN5A). Response to treatment is influenced by biophysical properties of mutations. OBJECTIVE We sought to investigate the unexpected deleterious effect of mexiletine in a mutation combining gain-of- function and trafficking abnormalities....
متن کاملEnhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform
Congenital long QT syndrome (LQTS) is an inherited syndrome characterized by prolongation of the QT interval on the electrocardiogram and an increased susceptibility to life-threatening ventricular arrhythmias. Mutations in the SCN5A gene, which encodes the α-subunit of the cardiac Na+ channel, represent the third most common cause of LQTS, behind mutations in potassium channel genes KCNQ1 and ...
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ژورنال
عنوان ژورنال: Circulation
سال: 2000
ISSN: 0009-7322,1524-4539
DOI: 10.1161/01.cir.101.14.1698