International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the clinical genome resource framework
CA James, JDH Jongbloed… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited
disease characterized by ventricular arrhythmias and progressive ventricular dysfunction …
disease characterized by ventricular arrhythmias and progressive ventricular dysfunction …
Prevalence and electronic health record-based phenotype of loss-of-function genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with
variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants …
variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants …
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria
Background—With recognition of disease-causing genes in arrhythmogenic right ventricular
cardiomyopathy, mutation analysis is being applied. Methods and Results—The role of …
cardiomyopathy, mutation analysis is being applied. Methods and Results—The role of …
Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population
M Bourfiss, M van Vugt, AI Alasiri… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Pathogenic and likely pathogenic variants associated with arrhythmogenic
right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic …
right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic …
Arrhythmogenic right ventricular cardiomyopathy
C Basso, D Corrado, B Bauce… - Circulation: Arrhythmia …, 2012 - Am Heart Assoc
1234 Circ Arrhythm Electrophysiol December 2012 gene-positive. There is not yet a well-
defined role for routine genetic screening to confirm a clinical diagnosis in index cases …
defined role for routine genetic screening to confirm a clinical diagnosis in index cases …
The ARVD/C genetic variants database: 2014 update
E Lazzarini, JDH Jongbloed, K Pilichou… - Human …, 2015 - Wiley Online Library
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by
myocardial atrophy, fibro‐fatty replacement, and a high risk of ventricular arrhythmias that …
myocardial atrophy, fibro‐fatty replacement, and a high risk of ventricular arrhythmias that …
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia–associated mutations from background genetic noise
JD Kapplinger, AP Landstrom, BA Salisbury… - Journal of the American …, 2011 - jacc.org
Objectives: The aims of this study were to determine the spectrum and prevalence of
“background genetic noise” in the arrhythmogenic right ventricular cardiomyopathy …
“background genetic noise” in the arrhythmogenic right ventricular cardiomyopathy …
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
PA van der Zwaag, JDH Jongbloed… - Human …, 2009 - Wiley Online Library
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary
cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular …
cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular …
Arrhythmogenic right ventricular cardiomyopathy-associated desmosomal variants are rarely de novo: segregation and haplotype analysis of a multinational cohort
FHM van Lint, B Murray, C Tichnell… - Circulation: Genomic …, 2019 - Am Heart Assoc
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with
pathogenic/likely pathogenic (P/LP) variants in genes encoding the cardiac desmosomal …
pathogenic/likely pathogenic (P/LP) variants in genes encoding the cardiac desmosomal …
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator
A Protonotarios, R Bariani, C Cappelletto… - European heart …, 2022 - academic.oup.com
Aims To study the impact of genotype on the performance of the 2019 risk model for
arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results The study …
arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results The study …
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