Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations
| Autor: | Anders Krogh Broendberg, Jesper Vandborg Bjerre, Finn Lund Henriksen, Henrik Jensen, Jens Kristensen, Henning Bundgaard, Lisbeth Noerum Pedersen, Jens Cosedis Nielsen |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Heart disease Adolescent medicine.medical_treatment CPVT DNA Mutational Analysis 030204 cardiovascular system & hematology Arrhythmias Catecholaminergic polymorphic ventricular tachycardia Asymptomatic Sudden cardiac death 03 medical and health sciences Electrocardiography Young Adult 0302 clinical medicine Internal medicine Implantable cardioverter defibrillator medicine Journal Article Humans genetics Child Retrospective Studies business.industry Ryanodine Receptor Calcium Release Channel DNA Middle Aged medicine.disease Implantable cardioverter-defibrillator Penetrance Pedigree Cohort Mutation Cardiology Tachycardia Ventricular Population study Female medicine.symptom Cardiology and Cardiovascular Medicine business 030217 neurology & neurosurgery |
| Zdroj: | Broendberg, A K, Nielsen, J C, Bjerre, J, Pedersen, L N, Kristensen, J, Henriksen, F L, Bundgaard, H & Jensen, H K 2017, ' Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations ', Heart, vol. 103, no. 12, pp. 901-909 . https://doi.org/10.1136/heartjnl-2016-310509 |
| ISSN: | 1468-201X |
| DOI: | 10.1136/heartjnl-2016-310509 |
| Popis: | OBJECTIVE: The aim of this study was to characterise disease penetrance, course of disease and use of antiarrhythmic medication and implantable cardioverter-defibrillator (ICD) therapy in a Danish nationwide cohort of patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) due to mutations in the ryanodine receptor-2 (RyR2) gene.METHODS: The study population was identified through the national hereditary heart disease database (Progeny). The study population was divided into three groups: probands, symptomatic and asymptomatic relatives.RESULTS: We identified 23 symptomatic probands, 18 symptomatic and 10 asymptomatic relatives with a RyR2 mutation. Twenty (87%) probands and 10 (36%) relatives had severe presenting symptoms (sudden cardiac death (SCD), aborted SCD (ASCD) or syncope).As compared with symptomatic relatives, probands had lower age at onset of symptoms (16 years (IQR, 10-33) vs 43 years (IQR, 25-54), pCONCLUSIONS: In a national cohort of RyR2 mutation-positive CPVT patients, SCD, ASCD and syncope were presenting events in the majority of probands and also occurred in 36% of relatives identified through family screening. Probands were younger at disease onset and more prone to fatal or near-fatal events than relatives. |
| Databáze: | OpenAIRE |
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