RT Journal Article
T1 Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant.
A1 Arana-Rueda, Eduardo
A1 Pezzotti, Maria R
A1 Pedrote, Alonso
A1 Acosta, Juan
A1 Frutos-Lopez, Manuel
A1 Varela, Lourdes-Maria
A1 Garcia-Fernandez, Noelia
A1 Castellano, Antonio
K1 Brugada syndrome
K1 SCN5A
K1 left bundle branch block
K1 loss of function
K1 patch clamp
AB 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 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.
PB Wiley-Blackwell Publishing, Inc.
YR 2021
FD 2021-10-01
LK https://hdl.handle.net/10668/27471
UL https://hdl.handle.net/10668/27471
LA en
NO Arana-Rueda E, Pezzotti MR, Pedrote A, Acosta J, Frutos-López M, Varela LM, et al.  Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant. J Cardiovasc Electrophysiol. 2021 Oct;32(10):2785-2790.
NO We would like to thank Drs. Sara Pagans and Ramón Brugada for the kind gift of the pcDNA3-SCN5A plasmid containing the hNav1.5 sequence, and Dr. Eva Delpón for the hNavβ1 cDNA. This study was supported by grants from the Sociedad Española de Cardiología (Ritmo 2017), and the Consejería de Salud of the Junta de Andalucía (PI-0365-2017).
DS RISalud
RD Apr 10, 2025