Evidence map›Paper›PMID 33566628›Full record

ArticleCirculation. Genomic and precision medicine2021

Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.

Alice Ghidoni, Perry M Elliott, Petros Syrris, Hugh Calkins, Cynthia A James, Daniel P Judge, Brittney Murray, Julien Barc, Vincent Probst, Jean Jacques Schott and 17 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
3.9field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed, 32 citations in OpenAlex.

  1. Article
  2. Comprehensive analysis of desmosomal protein remodelling identifies desmocollin-2 as potential biomarker for arrhythmogenic cardiomyopathy.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025
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  7. From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2023
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  11. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2022
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors at 17 institutions in 10 countries.

Alice GhidoniCenter for Cardiac Arrhythmias of Genetic Origin (A.G., M.-C.K., P.J.S., L.C.), Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Perry M ElliottCenter for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, United Kingdom (P.M.E., P.S.).
Petros SyrrisCenter for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, United Kingdom (P.M.E., P.S.).
Hugh CalkinsDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M.).
Cynthia A JamesDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M.).
Daniel P JudgeMedical University of South Carolina, Charleston, SC (D.P.J.).
Brittney MurrayDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M.).
Julien BarcUniversité de Nantes (J.B.), CNRS, Inserm, l'Institut du Thorax, France.
Vincent ProbstUniversité de Nantes, CHU Nantes (V.P., J.J.S.), CNRS, Inserm, l'Institut du Thorax, France.
Jean Jacques SchottUniversité de Nantes, CHU Nantes (V.P., J.J.S.), CNRS, Inserm, l'Institut du Thorax, France.
Jiang-Ping SongState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China (J.-P.S.).
Richard N W HauerNetherlands Heart Institute (R.N.W.H., E.T.H., J.P.v.T.), University Medical Center Utrecht.
Edgar T HoorntjeNetherlands Heart Institute (R.N.W.H., E.T.H., J.P.v.T.), University Medical Center Utrecht.
J Peter van TintelenNetherlands Heart Institute (R.N.W.H., E.T.H., J.P.v.T.), University Medical Center Utrecht.
Eric Schulze-BahrMember of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart (V.P., E.S.-B., E.R.B., C.B., P.J.S., L.C.).
Robert M HamiltonHospital for Sick Children, Toronto, ON, Canada (R.M.H., K.M.).
Kirti MittalHospital for Sick Children, Toronto, ON, Canada (R.M.H., K.M.).
Christopher SemsarianAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, NSW, Australia (C.S.).
Elijah R BehrMember of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart (V.P., E.S.-B., E.R.B., C.B., P.J.S., L.C.).
Michael J AckermanDepartments of Cardiovascular Medicine (Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (M.J.A.).
Cristina BassoMember of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart (V.P., E.S.-B., E.R.B., C.B., P.J.S., L.C.).
Gianfranco ParatiIstituto Auxologico Italiano, IRCCS, Cardiomyopathies Unit, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan (G.P., L.C.).
Davide GentiliniBioinformatics and Statistical Genomics Unit (D.G.), Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Maria-Christina KottaCenter for Cardiac Arrhythmias of Genetic Origin (A.G., M.-C.K., P.J.S., L.C.), Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Bongani M MayosiDepartment of Medicine, Hatter Institute for Cardiovascular Research in Africa, Groote Schuur Hospital and Division of Cardiology, Faculty of Health Sciences, University of Cape Town, South Africa (B.M.M.).
Peter J SchwartzCenter for Cardiac Arrhythmias of Genetic Origin (A.G., M.-C.K., P.J.S., L.C.), Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Lia CrottiCenter for Cardiac Arrhythmias of Genetic Origin (A.G., M.-C.K., P.J.S., L.C.), Istituto Auxologico Italiano, IRCCS, Milan, Italy.
IRCCS Istituto Auxologico Italiano · ITCentre National de la Recherche Scientifique · FRJohns Hopkins University · USBritish Heart Foundation · GBHospital for Sick Children · CACentenary Institute · AUChinese Academy of Medical Sciences & Peking Union Medical College · CNGroote Schuur Hospital · ZAHeart Rhythm Society · USMedical University of South Carolina · USSt George’s University Hospitals NHS Foundation Trust · GBUniversity Hospital Münster · DEUniversity Medical Center Groningen · NLUniversity Medical Center Utrecht · NLUniversity of Padua · ITUniversity of Pavia · ITUtrecht University · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundArrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by fibrofatty replacement of the right and left ventricle, often causing ventricular dysfunction and life-threatening arrhythmias. Variants in desmosomal genes account for up to 60% of cases. Our objective was to establish the prevalence and clinical features of ACM stemming from pathogenic variants in the nondesmosomal cadherin 2 (CDH2), a novel genetic substrate of ACM.

methodsA cohort of 500 unrelated patients with a definite diagnosis of ACM and no disease-causing variants in the main ACM genes was assembled. Genetic screening of

resultsGenetic screening of

conclusionsIn this worldwide cohort of previously genotype-negative ACM patients, the prevalence of probands with

Indexed as

AdolescentAdultArrhythmogenic Right Ventricular DysplasiaCadherinsFemaleGene FrequencyGenetic VariationHumansMaleMiddle AgedPedigreePrevalenceProtein DomainsYoung AdultCadherinscadherinscardiomyopathymutationsudden cardiac deathtachycardia

Identifiers

PMID33566628
PMCPMC8284361
OpenAlexW3127848256

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.