Aim: The aim of this study was to investigate the predictive value of the rs1805124 polymorphism of the SCN5A gene with regard to idiopathic cardiac conduction disorders.
Results: The AG genotype frequency was significantly higher in patients with an atrioventricular block (61,2%±6,0%) compared with healthy control subjects (34,8%±2,3%), p<0.0001. The AG genotype frequencies among patients with only idiopathic complete right bundle-branch block (CRBBB) (54,2%±5,5%) and those with both CLBBB and LAH (50%±5,1) were significantly higher than in the control group (34,8%±2,3%), p<0.005.
Conclusions: The AG genotype of the H558R (rs1805124) polymorphism of the SCN5A gene is a genetic predictor of idiopathic disorders of atrioventricular and intraventricular conduction.
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http://dx.doi.org/10.1089/gtmb.2015.0012 | DOI Listing |
Biomolecules
November 2024
Cardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which need specific detection tools.
View Article and Find Full Text PDFStem Cell Res
December 2024
Department of Anatomy and Embryology, Leiden University Medical Center, 2300RC Leiden, the Netherlands. Electronic address:
Heart
November 2024
Cardiology, Hospital Clínico Universitario de Santiago de Compostela Servicio de Cardiología, Santiago De Compostela, A Coruña, Spain.
Background: The SCN5A gene polymorphism histidine-558-to-arginine (H558R) has been associated with atrial fibrillation (AF) and may affect the therapeutic effects of flecainide. This study aimed to assess the prevalence of the H558R polymorphism in a European cohort of patients with AF and examine its association with flecainide's effects on AF recurrence and toxicity.
Methods: This cohort study included patients diagnosed with AF and prescribed flecainide between 2017 and 2021 in a regional health area.
J Am Coll Cardiol
November 2024
Molecular Cardiology Unit, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:
JCEM Case Rep
July 2024
University of California, Los Angeles, Mattel Children's Hospital, Los Angeles, CA 90095, USA.
Hypothyroidism can have a significant impact on cardiac contractility, vascular resistance, blood pressure, and cardiac rhythm. Ventricular arrhythmias induced by hypothyroidism are infrequently reported, especially in pediatric cases. A 15-year-old girl with autoimmune hypothyroidism experienced pulseless ventricular arrhythmias on 2 separate occasions because of nonadherence to levothyroxine medication.
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