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 Vol. 165; no. 5; pp. 1050 - 1052
Main Authors:	Baskar, Shankar, MD, Ackerman, Michael J., MD, PhD, Clements, Diane, MS, Mayuga, Kenneth A., MD, Aziz, Peter F., MD
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-11-2014
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 ECG Beats per minute Electrocardiogram bpm
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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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2014.07.036