Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

Tfelt-Hansen, J; Jespersen, T; Hofman-Bang, J; Rasmussen, H Borger; Cedergreen, P; Skovby, F; Abriel, H; Svendsen, J Hastrup; Olesen, Soren-Peter; Christiansen, M; Haunso, S (2009). Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A. Canadian journal of cardiology, 25(3), pp. 156-60. Oakville (Canada): Canadian Cardiology Publications 10.1016/S0828-282X(09)70043-1

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The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who experienced shortness of breath and chest pain during agitation is described. An electrocardiogram revealed monomorphic ventricular tachycardia; after he was converted to nodal rhythm, he spontaneously went into sinus rhythm, and showed classic Brugada changes with coved ST elevation in leads V(1) to V(2). Mutation analysis of SCN5A revealed a novel mutation, 3480 deletion T frame shift mutation, resulting in premature truncation of the protein. Heterologous expression of this truncated protein in human embryonic kidney 293 cells showed a markedly reduced protein expression level. By performing whole-cell patch clamp experiments using human embryonic kidney 293 cells transfected with the mutated SCN5A, no current could be recorded. Hence, the results suggest that the patient suffered from haploinsufficiency of Na(v)1.5, and that this mutation was the cause of his Brugada syndrome.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten 04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten
UniBE Contributor:	Abriel, Hugues
ISSN:	0828-282X
Publisher:	Canadian Cardiology Publications
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 15:10
Last Modified:	05 Dec 2022 14:21
Publisher DOI:	10.1016/S0828-282X(09)70043-1
PubMed ID:	19279983
Web of Science ID:	000264267500004
URI:	https://boris.unibe.ch/id/eprint/30837 (FactScience: 195166)