Evidence map›Paper›PMID 36178741›Full record

Observational studyCirculation. Genomic and precision medicine2022

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

Marijke H van der Meulen, Johanna C Herkert, Susanna L den Boer, Gideon J du Marchie Sarvaas, Nico A Blom, Arend D J Ten Harkel, Hans M P J Breur, Lukas A J Rammeloo, Ronald B Tanke, Carlo Marcelis and 9 more

Open access · bronzeAbstract readMulticenter StudyObservational Study
In one paragraph

Observational study in Circulation. Genomic and precision medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
3.1field-weighted citation impact, top 7% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Guideline
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Clinical Features and Outcomes of PediatricJournal of the American Heart Association · 2024
    Article
  8. Review
  9. Article
  10. Genetics of Dilated Cardiomyopathy.Annual review of medicine · 2024
    Review
  11. Review
  12. [Clinical and genetic characteristics of children with primary dilated cardiomyopathy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Article
  13. Article
  14. [Recent research on childhood hypertrophic cardiomyopathy caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Article
  15. Article
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

19 authors at 7 institutions in 1 country.

Marijke H van der MeulenDept of Pediatric Cardiology, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (M.H.M., M.D.).
Johanna C HerkertDept of Pediatric Cardiology, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (M.H.M., M.D.).ORCID 0000-0003-0461-9102
Susanna L den BoerDept of Pediatric Cardiology, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (M.H.M., M.D.).
Gideon J du Marchie SarvaasDept of Pediatric Cardiology, Univ of Groningen, Univ Medical Center Groningen, Groningen (G.J.M.S.).ORCID 0000-0001-9247-0103
Nico A BlomDept of Pediatric Cardiology, Univ of Leiden, Leiden Univ Medical Center, Leiden (N.A.B., A.D.J.H.).ORCID 0000-0002-4823-6974
Arend D J Ten HarkelDept of Pediatric Cardiology, Univ of Leiden, Leiden Univ Medical Center, Leiden (N.A.B., A.D.J.H.).ORCID 0000-0003-3016-1086
Hans M P J BreurDept of Pediatric Cardiology, Univ of Utrecht, Wilhelmina Children's Hospital, Univ Medical Center Utrecht, Utrecht (H.M.P.J.B.).ORCID 0000-0001-8009-8869
Lukas A J RammelooDept of Pediatric Cardiology, Amsterdam Univ Medical Center, location Free Univ Medical Center, Amsterdam (L.A.J.R.).ORCID 0000-0001-7529-4195
Ronald B TankeDept of Pediatric Cardiology, Radboud Univ Medical Center, Nijmegen (R.B.T.).
Carlo MarcelisDept of Genetics, Radboud Univ Medical Center, Nijmegen (C.M.).ORCID 0000-0001-7095-4641
Ingrid M B H van de LaarDept of Clinical Genetics, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (I.M.B.H.L., J.M.A.V.).ORCID 0000-0002-2523-1230
Judith M A VerhagenDept of Clinical Genetics, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (I.M.B.H.L., J.M.A.V.).ORCID 0000-0002-0340-3433
Ronald H Lekanne Dit DeprezDept of Clinical Genetics, Amsterdam Univ Medical Center, location AMC, Amsterdam (R.H.L.D., J.P.T.).ORCID 0000-0003-4687-0186
Daniela Q C M Barge-SchaapveldDept of Clinical Genetics, Univ of Leiden, Leiden Univ Medical Center, Leiden (D.Q.C.M.B-S., I.C.).ORCID 0000-0003-4461-4293
Annette F BaasDept of Genetics, Univ of Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands (A.F.B., A.S., J.P.T.).ORCID 0000-0002-0335-9452
Arjan SammaniDept of Genetics, Univ of Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands (A.F.B., A.S., J.P.T.).ORCID 0000-0002-5557-9342
Imke ChristiaansDept of Genetics, Univ of Groningen, Univ Medical Center Groningen, Groningen (J.C.H., I.C.).ORCID 0000-0001-5799-2344
J Peter van TintelenDept of Clinical Genetics, Amsterdam Univ Medical Center, location AMC, Amsterdam (R.H.L.D., J.P.T.).ORCID 0000-0003-3854-6749
Michiel DalinghausDept of Pediatric Cardiology, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (M.H.M., M.D.).ORCID 000-0001-5531-4991
Leiden University Medical Center · NLUniversity Medical Center Groningen · NLUtrecht University · NLAmsterdam University Medical Centers · NLErasmus MC · NLRadboud University Nijmegen · NLWilhelmina Children's Hospital · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThis study aimed to describe the current practice and results of genetic evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype-phenotype correlations that may guide prognosis.

methodsWe performed a multicenter observational study in children diagnosed with dilated cardiomyopathy, from 2010 to 2017.

resultsOne hundred forty-four children were included. Initial diagnostic categories were idiopathic dilated cardiomyopathy in 67 children (47%), myocarditis in 23 (16%), neuromuscular in 7 (5%), familial in 18 (13%), inborn error of metabolism in 4 (3%), malformation syndrome in 2 (1%), and "other" in 23 (16%). Median follow-up time was 2.1 years [IQR 1.0-4.3]. Hundred-seven patients (74%) underwent genetic testing. We found a likely pathogenic or pathogenic variant in 38 children (36%), most often in

conclusionsGenetic testing is a valuable tool for predicting prognosis in children with dilated cardiomyopathy, with carriers of a likely pathogenic or pathogenic variant having a worse prognosis overall. Genetic testing should be incorporated in clinical work-up of all children with dilated cardiomyopathy regardless of presumed disease pathogenesis.

Indexed as

Cardiomyopathy, DilatedMyocarditisGenetic Association StudiesGenetic TestingHumansRisk Assessmentcardiomyopathy, dilatedgenetic testingpediatric cardiology

Identifiers

PMID36178741
PMCPMC9622377
OpenAlexW4298088138

What OpenQuestion holds

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LicenceCC BY
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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.