AI Article Synopsis
- - Familial hypokalemic periodic paralysis is a genetic muscle disorder that causes episodes of muscle weakness and low potassium levels in the blood, primarily due to mutations in the CACNA1S and SCN4A genes.
- - The condition is generally autosomal dominant, meaning it can be passed down through families, with the most common mutation affecting calcium channels in skeletal muscle.
- - A rare case is presented involving a patient with a new SCN4A mutation who experienced extreme bradycardia and a temporary syncopal sinus arrest, requiring the implantation of a pacemaker for heart regulation.
Article 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
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| http://dx.doi.org/10.2459/jcm.0b013e3283189564 | DOI Listing |
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