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

Overview

Journal J Pediatr

Specialty Pediatrics

Date 2014 Aug 31

PMID 25171853

Citations 11

Authors

Shankar Baskar

Michael J Ackerman

Diane Clements

Kenneth A Mayuga

Peter F Aziz

Affiliations

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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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