Novel Phenotypic Effects of a Rare SCN5A (c.2482C>T) Mutation

Abstract

In a familial cohort with 8 heterozygous carriers of a rare pathogenic SCN5A mutation (c.2482C>T), 4 female mutation carriers manifested with fetal ventricular tachycardia and 2:1 atrioventricular block. One presented with multifocal ectopic premature Purkinje-related complexes-like phenotype and atrial fibrillation later in life. These novel findings inform the need for robust fetal monitoring of mutation carriers.

Keywords

• fetal 2:1 AV block
• fetal ventricular tachycardia
• multifocal ectopic premature Purkinje-related complexes
• SCN5A