Evidence map›Paper›PMID 33947203›Full record

ArticleCirculation2021

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.

Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles and 24 more

Abstract read
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 313 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
313citing papers in PubMed, 5 pooled it
–field-weighted citation impact
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

313 citing papers in PubMed, 5 syntheses or guidelines pooled it.

  1. Guideline
  2. Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (Circulation. Genomic and precision medicine · 2025
    Pooled it
  3. Pooled it
  4. Guideline
  5. Pooled it
  6. Trial
  7. Trial
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. Review
  14. Article
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  16. Precision modification of heart failure signaling by CRISPR-Cas9 base editing.Journal of molecular and cellular cardiology · 2026
    Review
  17. Article
  18. RBM20 variants disrupt CaSignal transduction and targeted therapy · 2026
    Article
  19. Article
  20. Review

253 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

34 authors.

Elizabeth JordanDivision of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.
Laiken PetersonDivision of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.
Tomohiko AiDivision of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.
Babken AsatryanDepartment for Cardiology, Inselspital, Bern University Hospital, University of Bern, Switzerland (B.A.).
Lucas BronickiDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada (L.B., O.J.).
Emily BrownDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (E.B., C.A.J., B.M.).
Rudy CeleghinDepartment of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (R.C., K.P.).
Matthew EdwardsClinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom (M.E.).
Judy FanDepartment of Medicine, University of California, Los Angeles (J.F., J. Wang).
Jodie InglesCardio Genomics Program at Centenary Institute, University of Sydney, Australia (J.I.).
Cynthia A JamesDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (E.B., C.A.J., B.M.).
Olga JarinovaDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada (L.B., O.J.).
Renee JohnsonVictor Chang Cardiac Research Institute, Sydney, Australia (R.J.).
Daniel P JudgeDivision of Cardiology, Department of Medicine, Medical University of South Carolina, Charleston (D.P.J.).
Najim LahrouchiDepartment of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam Universitair Medische Centra, University of Amsterdam, the Netherlands (N.L., R.W.).
Ronald H Lekanne DeprezDepartment of Clinical Genetics, Amsterdam University Medical Center location Academic Medical Center, the Netherlands (R.H.L.D.).
R Thomas LumbersInstitute of Health Informatics, University College London, London, UK (R.T.L.).
Francesco MazzarottoCardiovascular Research Center, Royal Brompton and Harefield Hospitals, National Health Service Foundation Trust, London, United Kingdom (F.M., J. Ware).
Argelia Medeiros DomingoSwiss DNAlysis Cardiogenetics, Dübendorf, Switzerland (A.M.D.).
Rebecca L MillerCardiovascular Genomics Center, Inova Heart and Vascular Institute, Falls Church, VA (R.L.M., P. Shah).
Ana MoralesInvitae Corp, San Francisco, CA (A.M.).
Brittney MurrayDivision of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (E.B., C.A.J., B.M.).
Stacey PetersDepartment of Cardiology and Genomic Medicine, Royal Melbourne Hospital, Australia (S.P.).
Kalliopi PilichouDepartment of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (R.C., K.P.).
Alexandros ProtonotariosCentre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom (A.P., P. Syrris).
Christopher SemsarianAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Australia (C.S.).
Palak ShahCardiovascular Genomics Center, Inova Heart and Vascular Institute, Falls Church, VA (R.L.M., P. Shah).
Petros SyrrisCentre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom (A.P., P. Syrris).
Courtney ThaxtonDepartment of Genetics, University of North Carolina, Chapel Hill (C.T.).
J Peter van TintelenDepartment of Genetics, University Medical Center Utrecht, University of Utrecht, The Netherlands (J.P.v.T.).
Roddy WalshDepartment of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam Universitair Medische Centra, University of Amsterdam, the Netherlands (N.L., R.W.).
Jessica WangDepartment of Medicine, University of California, Los Angeles (J.F., J. Wang).
James WareCardiovascular Research Center, Royal Brompton and Harefield Hospitals, National Health Service Foundation Trust, London, United Kingdom (F.M., J. Ware).
Ray E HershbergerDivision of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.

Funding

The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
The Clinical Genome Resource - Expert Curation and EHR IntegrationU41HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S · 2017 to 2020
$13.3M
Precision Medicine for Dilated Cardiomyopathy in European and African AncestryR01HL128857 · NHLBI · OHIO STATE UNIVERSITY · PI HERSHBERGER, RAY E. · 2015 to 2020
$12.4M
Functional Validation of Myh14 in Stress-Induced Cardiac Remodeling.K08HL133491 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI WANG, JESSICA J · 2017 to 2021
$875k
Medical Research Council MC_UP_1102/20Medical Research Council MR/S003754/1NHGRI NIH HHS U24 HG009650NHGRI NIH HHS U41 HG009650NHLBI NIH HHS K08 HL133491NHLBI NIH HHS R01 HL128857Wellcome Trust 107469
6 · The paper itself

Abstract

backgroundEach of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. To clarify this, a systematic curation of evidence to establish the relationship of genes with DCM was conducted.

methodsAn international panel with clinical and scientific expertise in DCM genetics evaluated evidence supporting monogenic relationships of genes with idiopathic DCM. The panel used the Clinical Genome Resource semiquantitative gene-disease clinical validity classification framework with modifications for DCM genetics to classify genes into categories on the basis of the strength of currently available evidence. Representation of DCM genes on clinically available genetic testing panels was evaluated.

resultsFifty-one genes with human genetic evidence were curated. Twelve genes (23%) from 8 gene ontologies were classified as having definitive (

conclusionsIn the curation of 51 genes, 19 had high evidence (12 definitive/strong, 7 moderate). It is notable that these 19 genes explain only a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed. Clinical genetic testing panels include most high-evidence genes; however, genes lacking robust evidence are also commonly included. We recommend that high-evidence DCM genes be used for clinical practice and that caution be exercised in the interpretation of variants in variable-evidence DCM genes.

Indexed as

Cardiomyopathy, DilatedEvidence-Based MedicineExpert TestimonyGenetic Predisposition to DiseaseGenetic TestingHumanscardiomyopathygenetics

Identifiers

PMID33947203
PMCPMC8247549

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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.