Linked Life Data

18439184

Source:http://linkedlifedata.com/resource/pubmed/id/18439184

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-4-28
pubmed:abstractText
A 51-year-old woman presented with an episode of syncope. Upon further review she was found to have a typical Brugada type pattern on her electrocardiogram. She did not have evidence for structural heart disease. At electrophysiological testing she was found to have marked infrahisian conduction disease and had easily inducible polymorphic ventricular tachycardia. She underwent implantation of a dual-chamber implantable cardioverter defibrillator (ICD) and family screening was recommended. Genetic analysis revealed a novel nonsense mutation in the gene encoding for the sodium channel (SCN5A). Five months after ICD implantation the patient had an episode of ventricular fibrillation documented on ICD interrogation. This case is unique as it is consistent with an overlap syndrome, namely both Brugada Syndrome and distal atrioventricular (AV) conduction disease secondary to a novel SCN5A mutation in a young female. This finding highlights the phenotypic heterogeneity of novel SCN5A mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1540-8159
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
630-4
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Brugada syndrome with marked conduction disease: dual implications of a SCN5A mutation.
pubmed:affiliation
Electrophysiology Service & Cardiology Unit, Department of Medicine, University of Rochester Medical Center, Rochester, New York, USA. g_voro@yahoo.com
pubmed:publicationType
Journal Article, Case Reports