Atypical arrhythmic complications in familial hypokalemic periodic paralysis.
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
Maffè
Stefano
S
Division of Cardiology, Borgomanero Hospital, ASL 13 Novara, Italy. stemaffe@libero.it
Signorotti
Fabiana
F
Perucca
Antonello
A
Bielli
Massimo
M
Hladnik
Uros
U
Ragazzoni
Elena
E
Maduli
Elisabetta
E
Paffoni
Paola
P
Dellavesa
Pierfranco
P
Paino
Anna Maria
AM
Zenone
Franco
F
Parravicini
Umberto
U
Pardo
Nicolò Franchetti
NF
Cucchi
Lorenzo
L
Zanetta
Marco
M
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
D062553:NAV1.4 Voltage-Gated Sodium Channel; D017680:Potassium Compounds; C106251:SCN4A protein, human; D015222:Sodium Channels