Different types of cardiac remodelling and extra-cardiac complications caused by SCN5A mutations
نویسندگان
چکیده
منابع مشابه
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
OBJECTIVES We carried out a complete screening of the SCN5A gene in 38 Japanese patients with Brugada syndrome to investigate the genotype-phenotype relationship. BACKGROUND The gene SCN5A encodes the pore-forming alpha-subunit of voltage-gated cardiac sodium (Na) channel, which plays an important role in heart excitation/contraction. Mutations of SCN5A have been identified in 15% of patients...
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Mutations of SCN5A gene, which encodes the α-subunit of the voltage-gated Na(+) channel Na(V)1.5, underlie hereditary cardiac arrhythmic syndromes such as the type 3 long QT syndrome, cardiac conduction diseases, the Brugada syndrome, the sick sinus syndrome, a trial standstill, and numerous overlap syndromes. Patch-clamp studies in heterologous expression systems have provided important inform...
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متن کاملSCN5A Mutations in Brugada Syndrome Are Associated with Increased Cardiac Dimensions and Reduced Contractility
BACKGROUND The cardiac sodium channel (Na(v)1.5) controls cardiac excitability. Accordingly, SCN5A mutations that result in loss-of-function of Na(v)1.5 are associated with various inherited arrhythmia syndromes that revolve around reduced cardiac excitability, most notably Brugada syndrome (BrS). Experimental studies have indicated that Na(v)1.5 interacts with the cytoskeleton and may also be ...
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ژورنال
عنوان ژورنال: Heart, Lung and Circulation
سال: 2014
ISSN: 1443-9506
DOI: 10.1016/j.hlc.2014.07.053