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Genetic Variant Sco...
Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers
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- Svensson, Anneli, 1972- (author)
- Linköping University,Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Kardiologiska kliniken US
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- Platonov, Pyotr G. (author)
- Lund University,Lunds universitet,Kardiologi,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Electrocardiology Research Group - CIEL,Forskargrupper vid Lunds universitet,Cardiology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups,Department of Cardiology, Clinical Sciences, Lund University and Arrhythmia Clinic, Skåne University Hospital, Lund, Sweden
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- Haugaa, Kristina H. (author)
- Department of Cardiology, Centre for Cardiological Innovation, Oslo University Hospital, Oslo, Norway and University of Oslo, Oslo, Norway
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- Zareba, Wojciech (author)
- University of Rochester Medical Center, USA
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- Jensen, Henrik Kjærulf (author)
- Department of Cardiology, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Denmark
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- Bundgaard, Henning (author)
- Unit for Inherited Cardiac Diseases, The Heart Center, The National University Hospital, Copenhagen, Denmark
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- Gilljam, Thomas (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Madsen, Trine (author)
- Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark
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- Hansen, Jim (author)
- Department of Cardiology, Herlev-Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
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- Dejgaard, Lars A. (author)
- Department of Cardiology, Centre for Cardiological Innovation, Oslo University Hospital, Oslo, Norway and University of Oslo, Oslo, Norway
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- Karlsson, Lars O (author)
- Linköping University,Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Kardiologiska kliniken US
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- Gréen, Anna, 1973- (author)
- Linköping University,Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
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- Polonsky, Bronislava (author)
- University of Rochester Medical Center, USA
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- Edvardsen, Thor (author)
- Department of Cardiology, Centre for Cardiological Innovation, Oslo University Hospital, Oslo, Norway and University of Oslo, Oslo, Norway
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- Svendsen, Jesper Hastrup (author)
- Department of Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen; Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Copenhagen, Denmark and Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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- Gunnarsson, Cecilia, 1970- (author)
- Linköping University,Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Region Östergötland, Övr Regionledningskontoret
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(creator_code:org_t)
- 2021-09-01
- 2021
- English.
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In: Cardiology. - : S. Karger. - 0008-6312 .- 1421-9751. ; 146:6, s. 763-771
- Related links:
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https://doi.org/10.1...
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https://liu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- INTRODUCTION: Whether detailed genetic information contributes to risk stratification of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) remains uncertain. Pathogenic genetic variants in some genes seem to carry a higher risk for arrhythmia and earlier disease onset than others, but comparisons between variants in the same gene have not been done. Combined Annotation Dependent Depletion (CADD) score is a bioinformatics tool that measures the pathogenicity of each genetic variant. We hypothesized that a higher CADD score is associated with arrhythmic events and earlier age at ARVC manifestations in individuals carrying pathogenic or likely pathogenic genetic variants in plakophilin-2 (PKP2).METHODS: CADD scores were calculated using the data from pooled Scandinavian and North American ARVC cohorts, and their association with cardiac events defined as ventricular tachycardia/ventricular fibrillation (VT/VF) or syncope and age at definite ARVC diagnosis were assessed.RESULTS: In total, 33 unique genetic variants were reported in 179 patients (90 males, 71 probands, 96 with definite ARVC diagnosis at a median age of 35 years). Cardiac events were reported in 76 individuals (43%), of whom 53 had sustained VT/VF (35%). The CADD score was neither associated with age at cardiac events (HR 1.002, 95% CI: 0.953-1.054, p = 0.933) nor with age at definite ARVC diagnosis (HR 0.992, 95% CI: 0.947-1.039, p = 0.731).CONCLUSION: No correlation was found between CADD scores and clinical manifestations of ARVC, indicating that the score has no additional risk stratification value among carriers of pathogenic or likely pathogenic PKP2 genetic variants.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Arrhythmia
- Arrhythmogenic right ventricular cardiomyopathy
- Combined Annotation Dependent Depletion score
- Plakophilin-2
- Ventricular tachycardia
- Arrhythmia
- Arrhythmogenic right ventricular cardiomyopathy
- Combined Annotation Dependent Depletion score
- Plakophilin-2
- Ventricular tachycardia
Publication and Content Type
- ref (subject category)
- art (subject category)
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Cardiology
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Svensson, Anneli ...
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Platonov, Pyotr ...
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Haugaa, Kristina ...
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Zareba, Wojciech
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Jensen, Henrik K ...
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Bundgaard, Henni ...
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Gilljam, Thomas
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Madsen, Trine
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Hansen, Jim
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Dejgaard, Lars A ...
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Karlsson, Lars O
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Gréen, Anna, 197 ...
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Polonsky, Bronis ...
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Edvardsen, Thor
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Svendsen, Jesper ...
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Gunnarsson, Ceci ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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Cardiology
- By the university
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Linköping University
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Lund University
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University of Gothenburg