Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.

Circulation. Genomic and precision medicine - 1 Jun 2021

James Cynthia A, Jongbloed Jan D H, Hershberger Ray E, Morales Ana, Judge Daniel P, Syrris Petros, Pilichou Kalliopi, Domingo Argelia Medeiros, Murray Brittney, Cadrin-Tourigny Julia, Lekanne Deprez Ronald, Celeghin Rudy, Protonotarios Alexandros, Asatryan Babken, Brown Emily, Jordan Elizabeth, McGlaughon Jennifer, Thaxton Courtney, Kurtz C Lisa, van Tintelen J Peter

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended, and a pathogenic variant in an ARVC-associated gene is a major criterion for diagnosis according to the 2010 Task Force Criteria. As incorrect attribution of a gene to ARVC can contribute to misdiagnosis, we...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arrhythmias, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Arrhythmogenic Right Ventricular Dysplasia

Share to Cardiac electrophysiology and arrhythmias

Share to Cardiomyopathy and Myosin Studies

Share to Cardiovascular Effects of Exercise

Share to Genetic Predisposition to Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 33831308
DOI: 10.1161/CIRCGEN.120.003273
PMCID: PMC8205996

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.PMID 33831308Read ↗

Genetics in arrhythmogenic cardiomyopathies: where are we now and where are we heading to?Semantic proximity Read ↗

Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis.Semantic proximity Read ↗

Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.Semantic proximity Read ↗

An Evidence-based Assessment of Genes in Dilated CardiomyopathySemantic proximity Read ↗

Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation databaseSemantic proximity Read ↗

Arrhythmogenic right ventricular cardiomyopathy: an update on pathophysiology, genetics, diagnosis, and risk stratification.Semantic proximity Read ↗

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.Semantic proximity Read ↗

Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria.Semantic proximity Read ↗

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.Semantic proximity Read ↗

Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failureSemantic proximity Read ↗

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.Semantic proximity Read ↗

Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.