title: Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease.
abstract: An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.
authors.affiliation: Department of Pediatrics, Cleveland Clinic, Cleveland, OH.
authors.forename: Shankar
authors.initials: S
authors.lastname: Baskar
authors.affiliation: Divisions of Cardiovascular Diseases and Pediatric Cardiology, Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ackerman
authors.affiliation: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH.
authors.forename: Diane
authors.initials: D
authors.lastname: Clements
authors.affiliation: Department of Cardiovascular Medicine, Cleveland Clinic, Cleveland, OH.
authors.forename: Kenneth A
authors.initials: KA
authors.lastname: Mayuga
authors.affiliation: Department of Pediatric Electrophysiology, Cleveland Clinic, Cleveland, OH. Electronic address: AZIZP@ccf.org.
authors.forename: Peter F
authors.initials: PF
authors.lastname: Aziz
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics*; D002648:Child; D004562:Electrocardiography; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006325:Heart Atria / Q000002:abnormalities*; D006327:Heart Block / Q000235:genetics*; D006329:Heart Conduction System / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human