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

Kathryn H Schwartzman; Hemal M Nayak; Utkarsh Kohli

doi:10.1016/j.jaccas.2023.102212

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

JACC Case Rep. 2024 Jan 5;29(4):102212. doi: 10.1016/j.jaccas.2023.102212. eCollection 2024 Feb 21.

Authors

Kathryn H Schwartzman¹, Hemal M Nayak², Utkarsh Kohli³

Affiliations

¹ West Virginia University School of Medicine, Morgantown, West Virginia, USA.
² Division of Cardiology, University of Texas Health, San Antonio, Texas, USA.
³ Division of Pediatric Critical Care Medicine, Department of Pediatrics, West Virginia University School of Medicine and West Virginia University Children's Hospital, Morgantown, West Virginia, USA.

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

Publication types

Case Reports