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

Peer review status:IN REVISION

01 Mar 2021Submitted to Journal of Cardiovascular Electrophysiology
04 Mar 2021Assigned to Editor
04 Mar 2021Submission Checks Completed
10 Mar 2021Reviewer(s) Assigned
24 May 2021Review(s) Completed, Editorial Evaluation Pending
24 May 2021Editorial Decision: Revise Minor
15 Jun 20211st Revision Received