| http://purl.uniprot.org/citations/22090166 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22090166 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundBrugada syndrome is a potentially serious channelopathy that usually presents in adulthood and has only rarely been described in infancy. In the absence of metabolic or structural cardiac disease, rapid ventricular tachycardia (>200 bpm) and primary cardiac conduction disease are uncommon in infancy. We hypothesized that infants having rapid ventricular tachycardia and conduction abnormalities and not having structural or metabolic pathogeneses were likely to have mutations in depolarizing current channels.Methods and resultsA retrospective review of all clinical materials from a single institution over a 9-year period from all infants <2 years old and having a discharge diagnosis of ventricular tachycardia or ventricular fibrillation was performed. Among 32 infants fulfilling inclusion criteria, 12 had a structurally normal heart, and 9 of them had either prolonged QRS duration or Brugada pattern while in sinus rhythm. Of those 5 infants not having a definitive pathogenesis, electrophysiological testing had been performed in 4, and genetic testing had been performed in all 5 of those infants. During electrophysiological testing, a prolonged HV interval was present in 2 of 4, inducible ventricular tachycardia was present in 1 of 4, and a type 1 Brugada pattern was induced by intravenous procainamide in 3 of 4. Genetic testing revealed disease-causing mutations in depolarizing sodium (SCN5A) or calcium (CaCNB2b) channels in all 5 infants.ConclusionsInfants having rapid ventricular tachycardia and conduction abnormalities in the absence of structural or metabolic abnormalities are likely to have disease-causing mutations in cardiac depolarizing channels."xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.org/dc/terms/identifier | "doi:10.1161/circulationaha.111.054007"xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/author | "Pfeiffer R."xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/author | "Kanter R.J."xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/author | "Hu D."xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/author | "Antzelevitch C."xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/author | "Barajas-Martinez H."xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/author | "Carboni M.P."xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/name | "Circulation"xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/pages | "14-22"xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/title | "Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay."xsd:string |
| http://purl.uniprot.org/citations/22090166 | http://purl.uniprot.org/core/volume | "125"xsd:string |
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