Ventricular fibrillation due to a likely pathogenic SOS1 variant: An unrecognized etiology of infantile sudden death?
DOI: 10.1016/j.hrcr.2021.06.010; PMCID: PMC8377259
We present the case of a female infant presenting after a ventricular fibrillation arrest found to have ectopic atrial tachycardia (EAT). Evaluation revealed a likely pathogenic variant in SOS1 not previously reported in affected individuals. SOS1 variants are associated with Noonan syndrome, which belongs to a family of related genetic syndromes affecting the RAS/MAPK signaling pathway. To date, this is the first case reported of a ventricular fibrillation arrest in a patient with a RASopathy-related variant prior to development of the typically associated structural cardiac phenotype and may represent a previously unrecognized etiology of sudden death during infancy.
HeartRhythm Case Rep
Ectopic atrial tachycardia; Noonan syndrome; Pediatric; RASopathy; SOS1; Ventricular fibrillation
Follansbee CW, Malloy-Walton L. Ventricular fibrillation due to a likely pathogenic SOS1 variant: An unrecognized etiology of infantile sudden death?. HeartRhythm Case Rep. 2021;7(8):510-513. Published 2021 Aug 11. doi:10.1016/j.hrcr.2021.06.010
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Publisher's Link: https://www.heartrhythmcasereports.com/article/S2214-0271(21)00134-2/fulltext