Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease

Shankar Baskar; Michael J Ackerman; Diane Clements; Kenneth A Mayuga; Peter F Aziz

doi:10.1016/j.jpeds.2014.07.036

Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease

J Pediatr. 2014 Nov;165(5):1050-2. doi: 10.1016/j.jpeds.2014.07.036. Epub 2014 Aug 27.

Authors

Shankar Baskar¹, Michael J Ackerman², Diane Clements³, Kenneth A Mayuga⁴, Peter F Aziz⁵

Affiliations

¹ Department of Pediatrics, Cleveland Clinic, Cleveland, OH.
² Divisions of Cardiovascular Diseases and Pediatric Cardiology, Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN.
³ Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH.
⁴ Department of Cardiovascular Medicine, Cleveland Clinic, Cleveland, OH.
⁵ Department of Pediatric Electrophysiology, Cleveland Clinic, Cleveland, OH. Electronic address: AZIZP@ccf.org.

PMID: 25171853
DOI: 10.1016/j.jpeds.2014.07.036

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.

Publication types

Case Reports

MeSH terms

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*

Substances

NAV1.5 Voltage-Gated Sodium Channel
SCN5A protein, human

Supplementary concepts

Atrial Standstill