| Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A. | |
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MedLine Citation:
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PMID: 19279983 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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J Tfelt-Hansen; T Jespersen; J Hofman-Bang; H Borger Rasmussen; P Cedergreen; F Skovby; H Abriel; J Hastrup Svendsen; Soren-Peter Olesen; M Christiansen; S Haunso |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Canadian journal of cardiology Volume: 25 ISSN: 1916-7075 ISO Abbreviation: Can J Cardiol Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-03-12 Completed Date: 2009-05-04 Revised Date: 2011-07-22 |
Medline Journal Info:
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Nlm Unique ID: 8510280 Medline TA: Can J Cardiol Country: Canada |
Other Details:
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Languages: eng Pagination: 156-60 Citation Subset: IM |
Affiliation:
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Department of Cardiology, Copenhagen University Hospital, Blegdamsvej, Denmark. tfelt@dadlnet.dk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brugada Syndrome / genetics* Chromosome Deletion* Electrocardiography Frameshift Mutation* Humans Male Muscle Proteins / genetics* Patch-Clamp Techniques Pedigree Polymorphism, Single-Stranded Conformational Sodium Channels / genetics* Tachycardia, Ventricular / genetics* Transfection |
| Chemical | |
Reg. No./Substance:
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0/Muscle Proteins; 0/Sodium Channels; 0/sodium channel protein type 5 subunit alpha |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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