Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype
نویسندگان
چکیده
منابع مشابه
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
BACKGROUND Brugada syndrome (BrS) is a genetically determined cardiac electrical disorder, characterized by typical electrocardiography (ECG) alterations, and it is an arrhythmogenic syndrome that may lead to sudden cardiac death. The most common genotype found among BrS patients is caused by mutations in the SCN5A gene, which lead to a loss of function of the cardiac sodium (Na(+)) channel (Na...
متن کاملElectrophysiological Characteristics of a SCN5A Voltage Sensors Mutation R1629Q Associated With Brugada Syndrome
Brugada syndrome (BrS) is an inherited arrhythmogenic syndrome leading to sudden cardiac death, partially associated with autosomal dominant mutations in SCN5A, which encodes the cardiac sodium channel alpha-subunit (Nav1.5). To date some SCN5A mutations related with BrS have been identified in voltage sensor of Nav1.5. Here, we describe a dominant missense mutation (R1629Q) localized in the fo...
متن کاملA Double SCN5A Mutation Underlying Asymptomatic Brugada Syndrome
Objective/Background: Patients with the Brugada syndrome who experience syncope or aborted sudden death are at high risk for recurrent lethal arrhythmias. However, the prognosis and the therapeutic approaches in asymptomatic individuals with a Brugada-type ECG (asymptomatic Brugada syndrome) are controversial. Methods/ Results: We genetically screened 30 asymptomatic probands (male 29, female 1...
متن کاملA Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG
BACKGROUND Class IC antiarrhythmic agents may induce acquired forms of Brugada Syndrome. We have identified a novel mutation in SCN5A, the gene that encodes the α-subunit of the human cardiac sodium channel (hNav1.5), in a patient who exhibited Brugada- type ECG changes during pharmacotherapy of atrial arrhythmias. OBJECTIVE To assess whether the novel mutation p.V1328M can cause drug induced...
متن کاملNovel SCN5A mutation (Q55X) associated with age-dependent expression of Brugada syndrome presenting as neurally mediated syncope.
BACKGROUND An association between Brugada syndrome and neurally mediated syncope has been described. Although mutations in SCN5A have been identified in Brugada syndrome, the genetic link between Brugada syndrome and neurally mediated syncope has not been determined. OBJECTIVES The purpose of the study was to clinically and genetically characterize a man with recurrent syncope that originally...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2019
ISSN: 1664-8021
DOI: 10.3389/fgene.2019.00547