FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W49253612> ?p ?o ?g. }

• W49253612 abstract "Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmo-genic cardiac disease predisposing affected individuals to sudden cardiac death (SCD). Methods and Results: Here we provide data on the largest CPVT population thus far described. The study population consisted of 177 patients (64% female) of 93 families. All 93 probands (pbs) were screened for RYR2 mutations: 54 (58%) pbs carried a heterozygous RYR2 mutation, 1 pb a compound heterozygous RYR2 mutation and 3 pbs a homozygous (1), compound heterozygous (1) or heterozygous (1) CASQ2 mutation. One KCNJ2 mutation (T305I) was detected in a total of 15 pbs. In family members, another 40 RYR2 mutation carriers were identified. Only 29 of 95 gene carriers were phenotypically silent, therefore the penetrance of a RYR2 mutation was 69%. Of note, female sex was predominant among CPVT probands without a RYR2 mutation. Before the initiation of any treatment related to CPVT, 77 of 93 (83%) pbs experienced a cardiac e vent. Mean age of first event was 12±9 years. Neither sex nor the presence/absence of a RYR2 mutation was associated with a higher risk of developing events or with a younger age at onset of symptoms. Before therapy, 70% and 40% of 177 patients remained free of cardiac arrest and SCD before therapy by age 20 and 40 years, respectively. A history of juvenile SCD (<40 yrs) was present in 36% of families: the mean age of the lethal event was 18±9 yrs. One-hundred CPVT patients were initiated on β-blockers. On top, 41 patients were implanted with an ICD. During a mean follow-up time of 4.5±3 years, 28% of patients experienced a syncope (n=11), cardiac arrest (n=5) or appropriate ICD shock (n=12). Neither sex nor genotype was associated with a worse response to therapy. Conclusions: In this largest CPVT population reported so far, the presence/absence of a RYR2 mutation wasn’t associated with different clinical characteristics or response to therapy as compared to non-mutation carriers. CPVT remains a highly malignant disease with only a moderate response to β-blockers." @default.
• W49253612 created "2016-06-24" @default.
• W49253612 creator A5005798939 @default.
• W49253612 creator A5008966758 @default.
• W49253612 creator A5010234390 @default.
• W49253612 creator A5015041714 @default.
• W49253612 creator A5021196395 @default.
• W49253612 creator A5027001574 @default.
• W49253612 creator A5036231929 @default.
• W49253612 creator A5055155626 @default.
• W49253612 creator A5057057365 @default.
• W49253612 creator A5078647118 @default.
• W49253612 date "2007-10-16" @default.
• W49253612 modified "2023-09-26" @default.
• W49253612 title "Abstract 910: Catecholaminergic Polymorphic Ventricular Tachycardia: Genetics, Natural History and Response to Therapy" @default.
• W49253612 doi "https://doi.org/10.1161/circ.116.suppl_16.ii_179" @default.
• W49253612 hasPublicationYear "2007" @default.
• W49253612 type Work @default.
• W49253612 sameAs 49253612 @default.
• W49253612 citedByCount "2" @default.
• W49253612 countsByYear W492536122013 @default.
• W49253612 crossrefType "journal-article" @default.
• W49253612 hasAuthorship W49253612A5005798939 @default.
• W49253612 hasAuthorship W49253612A5008966758 @default.
• W49253612 hasAuthorship W49253612A5010234390 @default.
• W49253612 hasAuthorship W49253612A5015041714 @default.
• W49253612 hasAuthorship W49253612A5021196395 @default.
• W49253612 hasAuthorship W49253612A5027001574 @default.
• W49253612 hasAuthorship W49253612A5036231929 @default.
• W49253612 hasAuthorship W49253612A5055155626 @default.
• W49253612 hasAuthorship W49253612A5057057365 @default.
• W49253612 hasAuthorship W49253612A5078647118 @default.
• W49253612 hasConcept C104317684 @default.
• W49253612 hasConcept C113217602 @default.
• W49253612 hasConcept C126322002 @default.
• W49253612 hasConcept C127716648 @default.
• W49253612 hasConcept C164705383 @default.
• W49253612 hasConcept C188997412 @default.
• W49253612 hasConcept C190712762 @default.
• W49253612 hasConcept C200544954 @default.
• W49253612 hasConcept C2775935837 @default.
• W49253612 hasConcept C2776331378 @default.
• W49253612 hasConcept C2778178275 @default.
• W49253612 hasConcept C2781179581 @default.
• W49253612 hasConcept C2908647359 @default.
• W49253612 hasConcept C2993353509 @default.
• W49253612 hasConcept C2994225774 @default.
• W49253612 hasConcept C501734568 @default.
• W49253612 hasConcept C519063684 @default.
• W49253612 hasConcept C54355233 @default.
• W49253612 hasConcept C71924100 @default.
• W49253612 hasConcept C86803240 @default.
• W49253612 hasConcept C99454951 @default.
• W49253612 hasConceptScore W49253612C104317684 @default.
• W49253612 hasConceptScore W49253612C113217602 @default.
• W49253612 hasConceptScore W49253612C126322002 @default.
• W49253612 hasConceptScore W49253612C127716648 @default.
• W49253612 hasConceptScore W49253612C164705383 @default.
• W49253612 hasConceptScore W49253612C188997412 @default.
• W49253612 hasConceptScore W49253612C190712762 @default.
• W49253612 hasConceptScore W49253612C200544954 @default.
• W49253612 hasConceptScore W49253612C2775935837 @default.
• W49253612 hasConceptScore W49253612C2776331378 @default.
• W49253612 hasConceptScore W49253612C2778178275 @default.
• W49253612 hasConceptScore W49253612C2781179581 @default.
• W49253612 hasConceptScore W49253612C2908647359 @default.
• W49253612 hasConceptScore W49253612C2993353509 @default.
• W49253612 hasConceptScore W49253612C2994225774 @default.
• W49253612 hasConceptScore W49253612C501734568 @default.
• W49253612 hasConceptScore W49253612C519063684 @default.
• W49253612 hasConceptScore W49253612C54355233 @default.
• W49253612 hasConceptScore W49253612C71924100 @default.
• W49253612 hasConceptScore W49253612C86803240 @default.
• W49253612 hasConceptScore W49253612C99454951 @default.
• W49253612 hasIssue "suppl_16" @default.
• W49253612 hasLocation W492536121 @default.
• W49253612 hasOpenAccess W49253612 @default.
• W49253612 hasPrimaryLocation W492536121 @default.
• W49253612 hasRelatedWork W2028546302 @default.
• W49253612 hasRelatedWork W2037051841 @default.
• W49253612 hasRelatedWork W2081524260 @default.
• W49253612 hasRelatedWork W2121850831 @default.
• W49253612 hasRelatedWork W2289689999 @default.
• W49253612 hasRelatedWork W2431271124 @default.
• W49253612 hasRelatedWork W2531019770 @default.
• W49253612 hasRelatedWork W2590757886 @default.
• W49253612 hasRelatedWork W2803179067 @default.
• W49253612 hasRelatedWork W3003424136 @default.
• W49253612 hasVolume "116" @default.
• W49253612 isParatext "false" @default.
• W49253612 isRetracted "false" @default.
• W49253612 magId "49253612" @default.
• W49253612 workType "article" @default.