Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 25171853.
- Also identified by DOI 10.1016/j.jpeds.2014.07.036.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Arrhythmias, Cardiac
- Cardiomyopathies
- Genetic Diseases, Inborn
- Heart Atria
- Heart Block
- NAV1.5 Voltage-Gated Sodium Channel