Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Harvard

Svensson, A, Platonov, PG, Haugaa, KH, Zareba, W, Jensen, HK, Bundgaard, H, Gilljam, T, Madsen, T, Hansen, J, Dejgaard, LA, Karlsson, LO, Gréen, A, Polonsky, B, Edvardsen, T, Svendsen, JH & Gunnarsson, C 2021, 'Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers', Cardiology, bind 146, nr. 6, s. 763-771. https://doi.org/10.1159/000519231

APA

Svensson, A., Platonov, P. G., Haugaa, K. H., Zareba, W., Jensen, H. K., Bundgaard, H., Gilljam, T., Madsen, T., Hansen, J., Dejgaard, L. A., Karlsson, L. O., Gréen, A., Polonsky, B., Edvardsen, T., Svendsen, J. H., & Gunnarsson, C. (2021). Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers. Cardiology, 146(6), 763-771. https://doi.org/10.1159/000519231

CBE

Svensson A, Platonov PG, Haugaa KH, Zareba W, Jensen HK, Bundgaard H, Gilljam T, Madsen T, Hansen J, Dejgaard LA, Karlsson LO, Gréen A, Polonsky B, Edvardsen T, Svendsen JH, Gunnarsson C. 2021. Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers. Cardiology. 146(6):763-771. https://doi.org/10.1159/000519231

MLA

Vancouver

Author

Svensson, Anneli ; Platonov, Pyotr G ; Haugaa, Kristina H ; Zareba, Wojciech ; Jensen, Henrik Kjærulf ; Bundgaard, Henning ; Gilljam, Thomas ; Madsen, Trine ; Hansen, Jim ; Dejgaard, Lars A ; Karlsson, Lars O ; Gréen, Anna ; Polonsky, Bronislava ; Edvardsen, Thor ; Svendsen, Jesper Hastrup ; Gunnarsson, Cecilia. / Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers. I: Cardiology. 2021 ; Bind 146, Nr. 6. s. 763-771.

Bibtex

@article{f0b0c6c3222845a0b1fed60c57a7c795,
title = "Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers",
abstract = "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.",
author = "Anneli Svensson and Platonov, {Pyotr G} and Haugaa, {Kristina H} and Wojciech Zareba and Jensen, {Henrik Kj{\ae}rulf} and Henning Bundgaard and Thomas Gilljam and Trine Madsen and Jim Hansen and Dejgaard, {Lars A} and Karlsson, {Lars O} and Anna Gr{\'e}en and Bronislava Polonsky and Thor Edvardsen and Svendsen, {Jesper Hastrup} and Cecilia Gunnarsson",
year = "2021",
doi = "10.1159/000519231",
language = "English",
volume = "146",
pages = "763--771",
journal = "HeartDrug",
issn = "0008-6312",
publisher = "S./Karger AG",
number = "6",

}

RIS

TY - JOUR

T1 - Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers

AU - Svensson, Anneli

AU - Platonov, Pyotr G

AU - Haugaa, Kristina H

AU - Zareba, Wojciech

AU - Jensen, Henrik Kjærulf

AU - Bundgaard, Henning

AU - Gilljam, Thomas

AU - Madsen, Trine

AU - Hansen, Jim

AU - Dejgaard, Lars A

AU - Karlsson, Lars O

AU - Gréen, Anna

AU - Polonsky, Bronislava

AU - Edvardsen, Thor

AU - Svendsen, Jesper Hastrup

AU - Gunnarsson, Cecilia

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85120686638&partnerID=8YFLogxK

U2 - 10.1159/000519231

DO - 10.1159/000519231

M3 - Journal article

C2 - 34469894

VL - 146

SP - 763

EP - 771

JO - HeartDrug

JF - HeartDrug

SN - 0008-6312

IS - 6

ER -

ID: 68395461