Evidence map›Paper›PMID 34587765›Full record

ArticleCirculation2021

Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.

Marta Gigli, Davide Stolfo, Sharon L Graw, Marco Merlo, Caterina Gregorio, Suet Nee Chen, Matteo Dal Ferro, Alessia PaldinoMD, Giulia De Angelis, Francesca Brun and 26 more

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

Article in Circulation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
60citing papers in PubMed, 1 pooled it
10.2field-weighted citation impact, top 1% 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

60 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.

  1. Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026
    Pooled it
  2. Review
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  16. Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy.medRxiv : the preprint server for health sciences · 2025
    Article
  17. Review
  18. Critical analysis of the 2023 ESC guidelines on cardiomyopathy management.European heart journal supplements : journal of the European Society of Cardiology · 2025
    Article
  19. Article
  20. Review
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

36 authors at 15 institutions in 7 countries.

Marta Gigli *Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
Davide Stolfo *Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).ORCID 0000-0002-4538-6811
Sharon L GrawCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
Marco MerloCardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
Caterina GregorioBiostatistics Unit, Department of Medical Sciences, University of Trieste, Italy (C.G.).
Suet Nee ChenCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
Matteo Dal FerroCardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
Alessia PaldinoMDCardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
Giulia De AngelisCardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).ORCID 0000-0002-4471-6428
Francesca BrunCardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
Jean JirikowicCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
Ernesto E SalcedoCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
Sylvia TurjaCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).
Diane FatkinMolecular Cardiology Division, Victor Chang Cardiac Research Institute, and St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Australia (D.F., R.J.).ORCID 0000-0002-9010-9856
Renee JohnsonMolecular Cardiology Division, Victor Chang Cardiac Research Institute, and St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Australia (D.F., R.J.).
J Peter van TintelenDivision of Medicine, Department of Genetics and Cardiology, University Medical Center, Utrecht, the Netherlands (J.P.v.T., A.S.J.M.T.R.).
Anneline S J M Te RieleDivision of Medicine, Department of Genetics and Cardiology, University Medical Center, Utrecht, the Netherlands (J.P.v.T., A.S.J.M.T.R.).
Arthur A M WildeHeart Centre, Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, the Netherlands (A.W.).
Neal K LakdawalaBrigham and Women's Hospital, Harvard Medical School, Boston, MA (N.K.L., K.P.).
Kermshlise PicardBrigham and Women's Hospital, Harvard Medical School, Boston, MA (N.K.L., K.P.).
Daniela MianiUniversity Hospital of Udine, Italy (D. Miani, D. Muser).
Daniele MuserUniversity Hospital of Udine, Italy (D. Miani, D. Muser).
Giovanni Maria SeveriniInstitute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy (G.M.S.).ORCID 0000-0002-5790-2000
Hugh CalkinsDivision of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M., C.T.).ORCID 0000-0002-9262-9433
Cynthia A JamesDivision of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M., C.T.).
Brittney MurrayDivision of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M., C.T.).
Crystal TichnellDivision of Cardiology, Department of Medicine, The Johns Hopkins University, Baltimore, MD (H.C., C.A.J., B.M., C.T.).
Victoria N ParikhStanford Center for Inherited Cardiovascular Disease, CA (V.N.P., E.A.A., C.R.).
Euan A AshleyStanford Center for Inherited Cardiovascular Disease, CA (V.N.P., E.A.A., C.R.).ORCID 0000-0001-9418-9577
Chloe ReuterStanford Center for Inherited Cardiovascular Disease, CA (V.N.P., E.A.A., C.R.).ORCID 0000-0002-0429-9922
Jiangping SongNational Center for Cardiovascular Diseases in Beijing, China (J.S.).
Daniel P JudgeMedical University of South Carolina, Charleston (D.J.).
William J McKennaInstitute of Cardiovascular Science, University College of London, United Kingdom (W.J.M.).
Matthew R G TaylorCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).ORCID 0000-0001-9043-0810
Gianfranco SinagraCardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
Luisa MestroniCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.).ORCID 0000-0001-9043-0810
Azienda Sanitaria Universitaria Integrata di Trieste · ITUniversity of Colorado Anschutz Medical Campus · USJohns Hopkins University · USCenter for Inherited Blood Disorders · USBrigham and Women's Hospital · USUniversity Medical Center Utrecht · NLUniversity of Udine · ITVictor Chang Cardiac Research Institute · AUAmsterdam Neuroscience · NLIRCCS Materno Infantile Burlo Garofolo · ITKarolinska Institutet · SEMedical University of South Carolina · USNational Clinical Research Center for Digestive Diseases · CNUniversity College London · GBUniversity of Trieste · IT

Funding

ZOPOLRESTAT PHARMACOKINETICS IN DIABETICS WITH VARYING RENAL FUNCTIONM01RR000051 · NCRR · UNIVERSITY OF COLORADO DENVER · PI KOSMISKI, LISA A. · 1985 to 2008
$52.6M
NIH Prior Approval Process ProfessionalUL1TR002535 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2018 to 2022
$51.1M
Colorado Clinical and Translational Sciences InstituteUL1TR001082 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$48.0M
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
Genetics, Mechanisms and Clinical Phenotypes of Arrhythmogenic CardiomyopathyR01HL116906 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI MARCUS, FRANK I, MESTRONI, LUISA · 2013 to 2016
$9.2M
Stanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0M
Molecular Epidemiology of Dilated CardiomyopathR01HL069071 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI MESTRONI, LUISA · 2002 to 2005
$2.3M
Whole genome DNA sequencing to identify novel genes in dilated cardiomyopathyR01HL109209 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI TAYLOR, MATTHEW R · 2012 to 2016
$2.1M
Cardiomyocyte phenotype and mechanotransduction in Filamin C gene variants causing arrhythmogenic cardiomyopathyR01HL147064 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI MESTRONI, LUISA, TAYLOR, MATTHEW R · 2020 to 2023
$2.1M
The Role of RBM20 Sequence and Expression in Dilated CardiomyopathiesK08HL143185 · NHLBI · STANFORD UNIVERSITY · PI PARIKH, VICTORIA · 2019 to 2023
$725k
Stanford MoTrPAC Bioinformatics CenterU24EB023674 · NIBIB · STANFORD UNIVERSITY · PI ASHLEY, EUAN A · 2017 to 2017
$396k
American Heart Association-American Stroke Association 17GRNT33670495NCATS NIH HHS UL1 TR001082NCATS NIH HHS UL1 TR002535NCRR NIH HHS M01 RR000051NHGRI NIH HHS U01 HG007708NHGRI NIH HHS UM1 HG006542NHLBI NIH HHS K08 HL143185NHLBI NIH HHS R01 HL069071NHLBI NIH HHS R01 HL109209NHLBI NIH HHS R01 HL116906NHLBI NIH HHS R01 HL147064NIBIB NIH HHS U24 EB023674
6 · The paper itself

Abstract

backgroundFilamin C truncating variants (

methods

resultsEighty-five patients carrying

conclusionsAmong patients referred to tertiary referral centers,

Indexed as

Genetic Predisposition to DiseaseGenetic VariationPhenotypeAdultAllelesCardiomyopathiesCombined Modality TherapyDisease ManagementEchocardiographyFemaleFilaminsGenetic Association StudiesGenotypeHumansMaleMiddle AgedFilaminsFLNC protein, humanarrhythmogenic right ventricular dysplasiadeath, sudden, cardiacFLNC protein, humanheart failureoutcome studiesprognosis

Identifiers

PMID34587765
PMCPMC8595845
OpenAlexW3203785709

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.