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New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

dc.rights.licenseopenen_US
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.contributor.authorKYNDT, Florence
dc.contributor.authorBOZON, Dominique
dc.contributor.authorROUX-BUISSON, Nathalie
dc.contributor.authorSACHER, Frederic
dc.contributor.authorPROBST, Vincent
hal.structure.identifierCentre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] [CRCTB]
hal.structure.identifierIHU-LIRYC
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierHôpital Haut-Lévêque [CHU Bordeaux]
hal.structure.identifierCHU Pessac
hal.structure.identifierInstitut de rythmologie et modélisation cardiaque [Pessac] [IHU Liryc]
dc.contributor.authorTHAMBO, Jean-Benoit
dc.date.accessioned2025-01-28T15:48:57Z
dc.date.available2025-01-28T15:48:57Z
dc.date.issued2015-10-01
dc.identifier.issn1540-8167en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/204628
dc.description.abstractEnWe describe a new family with cathecholaminergic polymorphic ventricular tachycardia (CPVT) linked to the Triadin gene. This is the second report of such a CPVT of autosomal recessive inheritance. Using an NGS panel including 42 genes involved in cardiac sudden death, 2 heterozygous pathogenic mutations (c.613C> T/p.Gln205* and c.22 + 29 A>G) were identified in the Triadin gene in 2 sibs who experienced early severe arrhythmias without evidence of CPVT diagnosis at first cardiac evaluation. However, significant arrhythmias occurred after catecholaminergic stimulation. Each of the TRDN mutations was inherited from a healthy parent. In this family, genetic studies permit confirmation of the CPVT diagnosis in the 2 affected sibs and permit the early diagnosis of the third asymptomatic child. It also helped guide the therapeutic strategy in this family.
dc.language.isoENen_US
dc.subjectGenetic arrhythmias
dc.subject.enCatecholaminergic polymorphic ventricular tachycardia
dc.subject.enPresymptomatic testing
dc.subject.enSudden cardiac death
dc.subject.enTriadin
dc.title.enNew Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
dc.title.alternativeJ Cardiovasc Electrophysiolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/jce.12763en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed26200674en_US
bordeaux.journalJournal of Cardiovascular Electrophysiologyen_US
bordeaux.page1146-1150en_US
bordeaux.volume26en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue10en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04917492
hal.version1
hal.date.transferred2025-01-28T15:48:59Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
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