Pediatric and Familial Genetic Arrhythmia Syndromes: SCN5A-Related Disorders When It Is Not Long QT Type 3: Clinical Signs and Symptoms

Stephanie F Chandler; Gregory Webster; Christina Y Miyake

doi:10.1016/j.ccep.2023.10.007

Pediatric and Familial Genetic Arrhythmia Syndromes: SCN5A-Related Disorders When It Is Not Long QT Type 3: Clinical Signs and Symptoms

Card Electrophysiol Clin. 2024 Jun;16(2):211-218. doi: 10.1016/j.ccep.2023.10.007. Epub 2023 Nov 10.

Authors

Stephanie F Chandler¹, Gregory Webster¹, Christina Y Miyake²

Affiliations

¹ Division of Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, 225 East Chicago Avenue, Box 21, Chicago, IL 60611, USA.
² Department of Pediatrics, Division of Cardiology, Texas Children's Hospital and Baylor College of Medicine, 6651 Main Street, Houston, TX 77003, USA. Electronic address: [email protected].

PMID: 38749643
DOI: 10.1016/j.ccep.2023.10.007

Abstract

The following case series presents three different pediatric patients with SCN5A-related disease. In addition, family members are presented to demonstrate the variable penetrance that is commonly seen. Identifying features of this disease is important, because even in the very young, SCN5A disorders can cause lethal arrhythmias and sudden death.

Keywords: Atrial standstill; Brugada syndrome; Cardiomyopathy; Conduction block; Overlap; SCN5A.

Publication types

Review
Case Reports

MeSH terms

Adolescent
Arrhythmias, Cardiac* / diagnosis
Arrhythmias, Cardiac* / genetics
Arrhythmias, Cardiac* / physiopathology
Child
Child, Preschool
Electrocardiography
Female
Humans
Infant
Long QT Syndrome* / genetics
Long QT Syndrome* / physiopathology
Male
NAV1.5 Voltage-Gated Sodium Channel* / genetics