Evidence map›Paper›PMID 34935411›Full record

ArticleJournal of the American Heart Association2022

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Rabia S Khan, Elfriede Pahl, Lisa Dellefave-Castillo, Karen Rychlik, Alexander Ing, Kai Lee Yap, Casey Brew, Jamie R Johnston, Elizabeth M McNally, Gregory Webster

Open access · goldAbstract read
In one paragraph

Article in Journal of the American Heart Association, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
4.2field-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

32 citing papers in PubMed, 35 citations in OpenAlex.

  1. Article
  2. Review
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  4. Article
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  6. Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Review
  14. Article
  15. Clinical Features and Outcomes of PediatricJournal of the American Heart Association · 2024
    Article
  16. Review
  17. Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024
    Review
  18. Article
  19. Review
  20. MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024
    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

10 authors at 2 institutions in 1 country.

Rabia S KhanDivision of Cardiology Department of Pediatrics Ann & Robert H. Lurie Children's Hospital of Chicago Chicago IL.
Elfriede PahlDivision of Cardiology Department of Pediatrics Ann & Robert H. Lurie Children's Hospital of Chicago Chicago IL.
Lisa Dellefave-CastilloCenter for Genetic Medicine Bluhm Cardiovascular InstituteNorthwestern University Feinberg School of Medicine Chicago IL.ORCID 0000-0001-6044-0559
Karen RychlikBiostatistics Research Core Stanley Manne Children's Research InstituteAnn & Robert H. Lurie Children's Hospital of Chicago Chicago IL.
Alexander IngCenter for Genomics Department of Pathology and Laboratory Medicine Ann & Robert H. Lurie Children's Hospital of Chicago Chicago IL.
Kai Lee YapCenter for Genomics Department of Pathology and Laboratory Medicine Ann & Robert H. Lurie Children's Hospital of Chicago Chicago IL.
Casey BrewCenter for Genomics Department of Pathology and Laboratory Medicine Ann & Robert H. Lurie Children's Hospital of Chicago Chicago IL.
Jamie R JohnstonCenter for Genetic Medicine Bluhm Cardiovascular InstituteNorthwestern University Feinberg School of Medicine Chicago IL.
Elizabeth M McNallyCenter for Genetic Medicine Bluhm Cardiovascular InstituteNorthwestern University Feinberg School of Medicine Chicago IL.ORCID 0000-0002-1221-719X
Gregory WebsterDivision of Cardiology Department of Pediatrics Ann & Robert H. Lurie Children's Hospital of Chicago Chicago IL.ORCID 0000-0002-9107-8342
Lurie Children's Hospital · USNorthwestern 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
Cardiomyopathy Genomes ProjectR01HL128075 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MCNALLY, ELIZABETH M, NOBREGA, MARCELO A. · 2015 to 2023
$5.3M
Channelopathies and Cardiomyopathies Among Sudden Deaths in the YoungU01HL131914 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI GEORGE, ALFRED L., MCNALLY, ELIZABETH M · 2016 to 2019
$3.3M
Evaluation of First-Degree Relatives after Sudden Unexplained DeathK23HL130554 · NHLBI · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI WEBSTER, ROBERT GREGORY · 2017 to 2021
$947k
NCATS NIH HHS UL1 TR001422NHLBI NIH HHS K23 HL130554NHLBI NIH HHS R01 HL128075NHLBI NIH HHS U01 HL131914
6 · The paper itself

Abstract

Background Pediatric dilated cardiomyopathy (DCM) is a well-known clinical entity; however, phenotype-genotype correlations are inadequately described. Our objective was to provide genotype associations with life-threatening cardiac outcomes in pediatric DCM probands. Methods and Results We performed a retrospective review of children with DCM at a large pediatric referral center (2007-2016), excluding syndromic, chemotherapy-induced, and congenital heart disease causes. Genetic variants were adjudicated by an expert panel and an independent clinical laboratory. In a cohort of 109 pediatric DCM cases with a mean age at diagnosis of 4.2 years (SD 5.9), life-threatening cardiac outcomes occurred in 47% (42% heart transplant, 5% death). One or more pathogenic/likely pathogenic variants were present in 40/109 (37%), and 36/44 (82%) of pathogenic/likely pathogenic variants occurred in sarcomeric genes. The frequency of pathogenic/likely pathogenic variants was not different in patients with familial cardiomyopathy (15/33 with family history versus 25/76 with no family history,

Indexed as

Cardiomyopathy, DilatedAdolescentChildGenetic Association StudiesGenetic TestingGenotypeHumansMutationSarcomeresdilated cardiomyopathygenotypepediatricstransplant

Identifiers

PMID34935411
PMCPMC9075202
OpenAlexW4200028665

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.