loading page

Brugada syndrome masked by complete left bundle branch block. A clinical and functional study of its association with the p.1449Y>H SCN5A variant.
  • +5
  • Eduardo Arana-Rueda,
  • Rosa Pezzotti,
  • Alonso Pedrote,
  • Juan Acosta,
  • Manuel Frutos-López,
  • Lourdes-María Varela,
  • Noelia García-Fernández,
  • Antonio Castellano
Eduardo Arana-Rueda
Virgen del Rocio University Hospital

Corresponding Author:[email protected]

Author Profile
Rosa Pezzotti
Instituto de Biomedicina de Sevilla
Author Profile
Alonso Pedrote
Virgen del Rocio University Hospital
Author Profile
Juan Acosta
Virgen del Rocio University Hospital
Author Profile
Manuel Frutos-López
Virgen del Rocio University Hospital
Author Profile
Lourdes-María Varela
Instituto de Biomedicina de Sevilla
Author Profile
Noelia García-Fernández
Instituto de Biomedicina de Sevilla
Author Profile
Antonio Castellano
Universidad de Sevilla
Author Profile

Abstract

SCN5A gene variants are associated with both Brugada syndrome and conduction disturbances, sometimes expressing an overlapping phenotype. Functional consequences of SCN5A variants assessed by patch clamp electrophysiology are particularly beneficial for a correct pathogenic classification and are related to disease penetrance and severity. Here, we identify a novel SCN5A loss of function variant, p.1449Y>H, which presented with high penetrance and complete left bundle branch block, totally masking the typical findings on the electrocardiogram. We highlight the possibility of this overlap combination that makes impossible an electrocardiographic diagnosis and, through a functional analysis, associate the p.1449Y>H variant to SCN5A pathogenicity.
01 Mar 2021Submitted to Journal of Cardiovascular Electrophysiology
04 Mar 2021Submission Checks Completed
04 Mar 2021Assigned to Editor
10 Mar 2021Reviewer(s) Assigned
24 May 2021Review(s) Completed, Editorial Evaluation Pending
24 May 2021Editorial Decision: Revise Minor
15 Jun 20211st Revision Received
30 Jun 2021Submission Checks Completed
30 Jun 2021Assigned to Editor
30 Jun 2021Reviewer(s) Assigned
15 Jul 2021Review(s) Completed, Editorial Evaluation Pending
23 Jul 2021Editorial Decision: Accept
Oct 2021Published in Journal of Cardiovascular Electrophysiology volume 32 issue 10 on pages 2785-2790. 10.1111/jce.15215