Evidence map›Paper›PMID 28912180›Full record

ReviewCirculation research2017

Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

Elizabeth M McNally, Luisa Mestroni

Open access · bronzeAbstract readReview
In one paragraph

Review in Circulation research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 458 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
458citing papers in PubMed, 3 pooled it
38.9field-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

458 citing papers in PubMed, 3 syntheses or guidelines pooled it, 770 citations in OpenAlex.

  1. Revisiting Secondary Dilative Cardiomyopathy.International journal of molecular sciences · 2025
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Review
  6. Article
  7. Review
  8. RBM20 variants disrupt CaSignal transduction and targeted therapy · 2026
    Article
  9. Review
  10. Assessing Quality of Life in Genetic Cardiomyopathies: A Scoping Review.International journal of environmental research and public health · 2026
    Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. A CommonmedRxiv : the preprint server for health sciences · 2026
    Article
  16. Article
  17. Review
  18. Review
  19. Article
  20. Article

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

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

2 authors at 1 institution in 1 country.

Elizabeth M McNallyFrom the Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago IL (E.M.M.); and Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora (L.M.). elizabeth.mcnally@northwestern.edu Luisa.Mestroni@ucdenver.edu.
Luisa MestroniFrom the Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago IL (E.M.M.); and Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora (L.M.). elizabeth.mcnally@northwestern.edu Luisa.Mestroni@ucdenver.edu.
Northwestern University · US

Funding

Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8M
Colorado Clinical and Translational Sciences InstituteUL1TR001082 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$48.0M
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
SARCOGLYCAN IN MYOPATHY AND MUSCLE MEMBRANE STABILITYR01HL061322 · NHLBI · UNIVERSITY OF CHICAGO · PI MCNALLY, ELIZABETH M · 1999 to 2022
$7.5M
Cardiomyopathy Genomes ProjectR01HL128075 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MCNALLY, ELIZABETH M, NOBREGA, MARCELO A. · 2015 to 2023
$5.3M
Mechanisms of sulfonylurea receptor mediated cardiomyopathyR01HL122109 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MAKIELSKI, JONATHAN C, MCNALLY, ELIZABETH M · 2015 to 2018
$2.4M
Molecular Epidemiology of Dilated CardiomyopathR01HL069071 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI MESTRONI, LUISA · 2002 to 2005
$2.3M
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
NCATS NIH HHS UL1 TR001082NCATS NIH HHS UL1 TR001422NHLBI NIH HHS R01 HL061322NHLBI NIH HHS R01 HL069071NHLBI NIH HHS R01 HL116906NHLBI NIH HHS R01 HL122109NHLBI NIH HHS R01 HL128075NHLBI NIH HHS R01 HL147064
6 · The paper itself

Abstract

Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at risk or with early stage disease, offering the opportunity for early intervention. This review will address diagnosis and management of DCM, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to DCM and their pathogenetic mechanisms. Historically, cardiac morphology has been used to classify cardiomyopathy subtypes. Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of DCM, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.

Indexed as

MutationVentricular FunctionAnimalsBiopsyCardiac Imaging TechniquesCardiomyopathy, DilatedDNA Mutational AnalysisGenetic MarkersGenetic Predisposition to DiseaseHumansMolecular Diagnostic TechniquesMyocardiumPhenotypePredictive Value of TestsPrognosisRisk AssessmentGenetic Markerscardiomyopathy, dilatedgenetic testingheart failuremutationsarcomerestherapeutics

Identifiers

PMID28912180
PMCPMC5626020
OpenAlexW2755193453

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.