Next Article in Journal
Who Packed the Drugs? Application of Bayesian Networks to Address Questions of DNA Transfer, Persistence, and Recovery from Plastic Bags and Tape
Previous Article in Journal
Additive and Dominance Genomic Analysis for Litter Size in Purebred and Crossbred Iberian Pigs
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 13
Issue 1
10.3390/genes13010016
genes-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts

by
Teresa Villarreal-Molina
1,
Gabriela Paola García-Ordóñez
1,
Álvaro E. Reyes-Quintero
2,
Mayra Domínguez-Pérez
1,
Leonor Jacobo-Albavera
1,
Santiago Nava
2,
Alessandra Carnevale
3,
Argelia Medeiros-Domingo
4,* and
Pedro Iturralde
2,*
1
Laboratory of Cardiovascular Genomics, National Institute of Genomic Medicine, Mexico City 14610, Mexico
2
Departament of Electrocardiology, National Institute of Cardiology “Ignacio Chávez”, Mexico City 14080, Mexico
3
Laboratory of Mendelian Diseases, National Institute of Genomic Medicine, Mexico City 14610, Mexico
4
Swiss DNAlysis, Cardiogenetics, 8600 Dübendorf, Switzerland
*
Authors to whom correspondence should be addressed.
Genes 2022, 13(1), 16; https://doi.org/10.3390/genes13010016
Submission received: 30 October 2021 / Revised: 11 December 2021 / Accepted: 18 December 2021 / Published: 22 December 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
Browse Figures
Versions Notes

Abstract

Sodium voltage-gated channel α subunit 5 (SCN5A)-mutations may cause an array of arrhythmogenic syndromes most frequently as an autosomal dominant trait, with incomplete penetrance, variable expressivity and male predominance. In the present study, we retrospectively describe a group of Mexican patients with SCN5A-disease causing variants in whom the onset of symptoms occurred in the pediatric age range. The study included 17 patients with clinical diagnosis of primary electrical disease, at least one SCN5A pathogenic or likely pathogenic mutation and age of onset <18 years, and all available first- and second-degree relatives. Fifteen patients (88.2%) were male, and sixteen independent variants were found (twelve missense, three truncating and one complex inframe deletion/insertion). The frequency of compound heterozygosity was remarkably high (3/17, 17.6%), with early childhood onset and severe disease. Overall, 70.6% of pediatric patients presented with overlap syndrome, 11.8% with isolated sick sinus syndrome, 11.8% with isolated Brugada syndrome (BrS) and 5.9% with isolated type 3 long QT syndrome (LQTS). A total of 24/45 SCN5A mutation carriers were affected (overall penetrance 53.3%), and penetrance was higher in males (63.3%, 19 affected/30 mutation carriers) than in females (33.3%, 5 affected/15 carriers). In conclusion, pediatric patients with SCNA-disease causing variants presented mainly as overlap syndrome, with predominant loss-of-function phenotypes of sick sinus syndrome (SSS), progressive cardiac conduction disease (PCCD) and ventricular arrhythmias.
Keywords: SCN5A-channelopathy; childhood onset; overlap syndrome; sick sinus syndrome; progressive cardiac conduction disease; Brugada syndrome; idiopathic ventricular tachycardia; long QT syndrome; compound heterozygosity SCN5A-channelopathy; childhood onset; overlap syndrome; sick sinus syndrome; progressive cardiac conduction disease; Brugada syndrome; idiopathic ventricular tachycardia; long QT syndrome; compound heterozygosity

Share and Cite

MDPI and ACS Style

Villarreal-Molina, T.; García-Ordóñez, G.P.; Reyes-Quintero, Á.E.; Domínguez-Pérez, M.; Jacobo-Albavera, L.; Nava, S.; Carnevale, A.; Medeiros-Domingo, A.; Iturralde, P. Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts. Genes 2022, 13, 16. https://doi.org/10.3390/genes13010016

AMA Style

Villarreal-Molina T, García-Ordóñez GP, Reyes-Quintero ÁE, Domínguez-Pérez M, Jacobo-Albavera L, Nava S, Carnevale A, Medeiros-Domingo A, Iturralde P. Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts. Genes. 2022; 13(1):16. https://doi.org/10.3390/genes13010016

Chicago/Turabian Style

Villarreal-Molina, Teresa, Gabriela Paola García-Ordóñez, Álvaro E. Reyes-Quintero, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Santiago Nava, Alessandra Carnevale, Argelia Medeiros-Domingo, and Pedro Iturralde. 2022. "Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts" Genes 13, no. 1: 16. https://doi.org/10.3390/genes13010016

APA Style

Villarreal-Molina, T., García-Ordóñez, G. P., Reyes-Quintero, Á. E., Domínguez-Pérez, M., Jacobo-Albavera, L., Nava, S., Carnevale, A., Medeiros-Domingo, A., & Iturralde, P. (2022). Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts. Genes, 13(1), 16. https://doi.org/10.3390/genes13010016

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop