Published December 1, 2021
| Version v1
Publication
Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant
Description
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.
Abstract
Sociedad Española de Cardiología Ritmo 2017Abstract
Consejería de Salud of the Junta de Andalucía PI‐0365‐2017Additional details
Identifiers
- URL
- https://idus.us.es/handle//11441/127915
- URN
- urn:oai:idus.us.es:11441/127915
Origin repository
- Origin repository
- USE