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

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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Bibliographic Details
Published in:The Journal of pediatrics 2014-11, Vol.165 (5), p.1050-1052
Main Authors: Baskar, Shankar, MD, Ackerman, Michael J., MD, PhD, Clements, Diane, MS, Mayuga, Kenneth A., MD, Aziz, Peter F., MD
Format: Article
Language:English
Subjects:
Arrhythmias, Cardiac - genetics
Cardiomyopathies - genetics
Child
Electrocardiography
Female
Genetic Diseases, Inborn - genetics
Heart Atria - abnormalities
Heart Block - genetics
Heart Conduction System - physiopathology
Heterozygote
Humans
Mutation
NAV1.5 Voltage-Gated Sodium Channel - genetics
Pediatrics
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Description
Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2014.07.036