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Cardiogenetics
Volume 2
Issue 1
10.4081/cardiogenetics.2012.e1
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Article

Novel SCN5A Mutation Associated with Idiopathic Ventricular Fibrillation Due to Subclinical Brugada Syndrome

by
Juan Jiménez-Jáimez
*,
Miguel Álvarez-López
,
Luis Tercedor-Sánchez
,
Pablo Santiago
,
Maria Algarra
,
Rocio Peñas
,
Francisca Valverde
and
Rafael Melgares-Moreno
Cardiology Department, Virgen de las Nieves Universitary Hospital, Granada
*
Author to whom correspondence should be addressed.
Cardiogenetics 2012, 2(1), e1; https://doi.org/10.4081/cardiogenetics.2012.e1
Submission received: 26 October 2011 / Revised: 29 November 2011 / Accepted: 14 November 2011 / Published: 20 December 2011

Abstract

Idiopathic ventricular fibrillation can be caused by subclinical channelopathies such as Brugada syndrome. Our objective is to study the clinical behaviour of a new SCN5A mutation found in a woman with idiopathic ventricular fibrillation. A 53-year-old woman presented with multiple episodes of ventricular fibrillation, a structurally normal heart and normal baseline electrocardiogram. Genetic testing included KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and KCNJ2 and identified a mutation in SCN5A (D1816fs/g98747-98748insT). We studied 15 immediate family members by means of electrocardiogram, echocardiogram, flecainide challenge test and genetic study. Eight subjects had the mutation. The flecainide challenge test was positive for Brugada syndrome in two subjects in the case group and none in the control group. The PR and QRS intervals on the baseline electrocardiogram were longer in the case group. The left atrial volume indexed to body surface was higher in the case group, likely due to the fact that two patients with the mutation had atrial fibrillation and none had it in the control group. The D1816fs/g98747-98748insT mutation in SCN5A may be associated with idiopathic ventricular fibrillation and Brugada syndrome with a broad phenotypic spectrum and incomplete penetrance. Genetic testing may be useful to identify the etiology of idiopathic ventricular fibrillation in patients with a negative thorough clinical evaluation.
Keywords: idiopathic ventricular fibrillation; cardiac arrest; gene mutation; Brugada syndrome idiopathic ventricular fibrillation; cardiac arrest; gene mutation; Brugada syndrome

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MDPI and ACS Style

Jiménez-Jáimez, J.; Álvarez-López, M.; Tercedor-Sánchez, L.; Santiago, P.; Algarra, M.; Peñas, R.; Valverde, F.; Melgares-Moreno, R. Novel SCN5A Mutation Associated with Idiopathic Ventricular Fibrillation Due to Subclinical Brugada Syndrome. Cardiogenetics 2012, 2, e1. https://doi.org/10.4081/cardiogenetics.2012.e1

AMA Style

Jiménez-Jáimez J, Álvarez-López M, Tercedor-Sánchez L, Santiago P, Algarra M, Peñas R, Valverde F, Melgares-Moreno R. Novel SCN5A Mutation Associated with Idiopathic Ventricular Fibrillation Due to Subclinical Brugada Syndrome. Cardiogenetics. 2012; 2(1):e1. https://doi.org/10.4081/cardiogenetics.2012.e1

Chicago/Turabian Style

Jiménez-Jáimez, Juan, Miguel Álvarez-López, Luis Tercedor-Sánchez, Pablo Santiago, Maria Algarra, Rocio Peñas, Francisca Valverde, and Rafael Melgares-Moreno. 2012. "Novel SCN5A Mutation Associated with Idiopathic Ventricular Fibrillation Due to Subclinical Brugada Syndrome" Cardiogenetics 2, no. 1: e1. https://doi.org/10.4081/cardiogenetics.2012.e1

APA Style

Jiménez-Jáimez, J., Álvarez-López, M., Tercedor-Sánchez, L., Santiago, P., Algarra, M., Peñas, R., Valverde, F., & Melgares-Moreno, R. (2012). Novel SCN5A Mutation Associated with Idiopathic Ventricular Fibrillation Due to Subclinical Brugada Syndrome. Cardiogenetics, 2(1), e1. https://doi.org/10.4081/cardiogenetics.2012.e1

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