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Mutations of the SCN5A gene are associated with several arrhythmic syndromes including the Brugada syndrome, conduction disease, long QT syndrome type 3 (LQT3), atrial fibrillation, and dilated cardiomyopathy. We report LQT3 associated with an A1180V cardiac sodium channel mutation, previously associated with cardiac conduction block, and dilated cardiomyopathy in three generations of a Chinese family. Clinical, electrocardiographic (ECG), and echocardiographic examination was followed by direct sequencing of SCN5A and HERG to screen genomic DNA from blood samples. The proband presented with multiple syncopes from the age of 7 years and was found to share a mutation with two other members of his family. Continuous ECG monitoring after presentation showed prolonged QTc and biphasic T waves, multiple episodes of ventricular tachycardia and torsades de pointes. The other two mutation carriers showed ECG features of LQT3 without clinical symptoms. Transthoracic echocardiography showed normal cardiac structure in all three mutation carriers. This study shows LQT3 features associated with an A1180V cardiac sodium channel mutation, expanding the spectrum of phenotypes resulting from this mutation in which biophysical study has shown a persistent late Na(+) current.

Original publication

DOI

10.1007/s00246-013-0773-6

Type

Journal article

Journal

Pediatr Cardiol

Publication Date

02/2014

Volume

35

Pages

295 - 300

Keywords

Cardiac Conduction System Disease, Child, DNA, DNA Mutational Analysis, Echocardiography, Electrocardiography, Follow-Up Studies, Heart Ventricles, Humans, Long QT Syndrome, Male, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Pedigree, Phenotype