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Compound Heterozygous Mutations in the SCN5A-Encoded Nav1.5 Cardiac Sodium Channel Resulting in Atrial Standstill and His-Purkinje System Disease

Journal
The Journal of Pediatrics
Publisher
Elsevier
Identifiers
DOI: 10.1016/j.jpeds.2014.07.036
Disciplines
  • Medicine
License
Unknown

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.

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