title: Atypical arrhythmic complications in familial hypokalemic periodic paralysis.
abstract: Familial hypokalemic periodic paralysis is an autosomal dominant muscle disorder characterized by episodic attacks of muscle weakness, accompanied by a decrease in blood potassium levels. It is based on genetic mutations in the genes CACNA1S (most frequent, encoding the skeletal muscle calcium channel) and SCN4A (10% of cases, encoding the sodium channel). Few cases have been reported with cardiac dysrhythmia. We report a rare case of a patient with a novel SCN4A mutation who presented, on ECG, extreme bradycardia and syncopal sinus arrest that required a temporary pacemaker implant
authors.affiliation: Division of Cardiology, Borgomanero Hospital, ASL 13 Novara, Italy. stemaffe@libero.it
authors.forename: Stefano
authors.initials: S
authors.lastname: Maffè
authors.forename: Fabiana
authors.initials: F
authors.lastname: Signorotti
authors.forename: Antonello
authors.initials: A
authors.lastname: Perucca
authors.forename: Massimo
authors.initials: M
authors.lastname: Bielli
authors.forename: Uros
authors.initials: U
authors.lastname: Hladnik
authors.forename: Elena
authors.initials: E
authors.lastname: Ragazzoni
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Maduli
authors.forename: Paola
authors.initials: P
authors.lastname: Paffoni
authors.forename: Pierfranco
authors.initials: P
authors.lastname: Dellavesa
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Paino
authors.forename: Franco
authors.initials: F
authors.lastname: Zenone
authors.forename: Umberto
authors.initials: U
authors.lastname: Parravicini
authors.forename: Nicolò Franchetti
authors.initials: NF
authors.lastname: Pardo
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Cucchi
authors.forename: Marco
authors.initials: M
authors.lastname: Zanetta
mesh_terms: D000328:Adult; D001919:Bradycardia / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D002304:Cardiac Pacing, Artificial; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D006339:Heart Rate / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010138:Pacemaker, Artificial; D020513:Paralysis, Hyperkalemic Periodic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D017680:Potassium Compounds / Q000008:administration & dosage; D054138:Sinus Arrest, Cardiac / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D015222:Sodium Channels / Q000235:genetics*; D013575:Syncope / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D062553:NAV1.4 Voltage-Gated Sodium Channel; D017680:Potassium Compounds; C106251:SCN4A protein, human; D015222:Sodium Channels