Evidence map›Paper›PMID 33336002›Full record

ArticleOpen medicine (Warsaw, Poland)2020

Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.

Isabelle Marey, Véronique Fressart, Caroline Rambaud, Paul Fornes, Laurent Martin, Sarah Grotto, Yves Alembik, Hervé Gorka, Gilles Millat, Estelle Gandjbakhch and 4 more

Open access · goldAbstract read
In one paragraph

Article in Open medicine (Warsaw, Poland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
1.6field-weighted citation impact, top 14% 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

11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Review
  6. Review
  7. The Role of Genetics in the Management of Heart Failure Patients.International journal of molecular sciences · 2023
    Review
  8. Review
  9. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2022
    Article
  10. Article
  11. 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

14 authors at 11 institutions in 1 country.

Isabelle MareyAPHP, Reference Center for Hereditary Heart Diseases, Department of Genetics, Pitié-Salpêtrière Hospital, 75013 Paris, France.
Véronique FressartAPHP, Cardiogenetics and Myogenetics Unit, Metabolic Biochemistry Department, Pitié-Salpêtrière Hospital Group, 75013 Paris, France.
Caroline RambaudDepartment of Pathology and Legal Medicine, Raymond Poincaré Hospital, APHP, UVSQ, 92380 Garches, France.
Paul FornesDepartment of Pathology and Legal Medicine, Reims Hospital, 51100 Reims, France.
Laurent MartinDepartment of Pathology and Legal Medicine, Dijon Hospital, 21000 Dijon, France.
Sarah GrottoDepartment of Medical Genetics, Robert Debré Hospital, 75019 Paris, France.
Yves AlembikDepartment of Medical Genetics, Strasbourg-Hautepierre Hospital, 67000 Strasbourg, France.
Hervé GorkaDepartment of Cardiology, Chartres Hospital, 28000 Chartres, France.
Gilles MillatMolecular Cardiogenetics Laboratory, Center for Biology and Pathology East, Hospices Civils de Lyon, 69500 Bron, France.
Estelle GandjbakhchAPHP, Reference Center for Hereditary Heart Diseases, Department of Genetics, Pitié-Salpêtrière Hospital, 75013 Paris, France.
Céline BordetAPHP, Reference Center for Hereditary Heart Diseases, Department of Genetics, Pitié-Salpêtrière Hospital, 75013 Paris, France.
Geoffroy Lorin de la GrandmaisonDepartment of Pathology and Legal Medicine, Raymond Poincaré Hospital, APHP, UVSQ, 92380 Garches, France.
Pascale RichardAPHP, Cardiogenetics and Myogenetics Unit, Metabolic Biochemistry Department, Pitié-Salpêtrière Hospital Group, 75013 Paris, France.
Philippe CharronAPHP, Reference Center for Hereditary Heart Diseases, Department of Genetics, Pitié-Salpêtrière Hospital, 75013 Paris, France.
Pitié-Salpêtrière Hospital · FRSorbonne Université · FRAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Reims · FRHôpital d'Hautepierre · FRHôpital Raymond-Poincaré · FRHôpital Robert-Debré · FRHospices Civils de Lyon · FRLes Hôpitaux de Chartres · FRMaison des Sciences de l’Homme de Dijon · FRUniversité de Versailles Saint-Quentin-en-Yvelines · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Post-mortem genetic analyses may help to elucidate the cause of cardiac death. The added value is however unclear when a cardiac disease is already suspected or affirmed. Our aim was to study the feasibility and medical impact of post-mortem genetic analyses in suspected cardiomyopathy. We studied 35 patients with cardiac death and suspected cardiomyopathy based on autopsy or clinical data. After targeted sequencing, we identified 15 causal variants in 15 patients (yield 43%) in sarcomeric (

Indexed as

cardiac deathcardiomyopathygenetic testingpost-mortemsudden death

Identifiers

PMID33336002
PMCPMC7711964
OpenAlexW3033186927

What OpenQuestion holds

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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.