Evidence map›Paper›PMID 31235869›Full record

ArticleEuropean journal of human genetics : EJHG2019

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.

Florence Fellmann, Carla G van El, Philippe Charron, Katarzyna Michaud, Heidi C Howard, Sarah N Boers, Angus J Clarke, Anne-Marie Duguet, Francesca Forzano, Silke Kauferstein and 14 more

Open access · hybridAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 2 pooled it
8.4field-weighted citation impact, top 2% 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

61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 113 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
    Review
  11. Review
  12. Article
  13. From rare events to systematic data collection: the RESCUED registry for sudden cardiac death in the young in Germany.Clinical research in cardiology : official journal of the German Cardiac Society · 2025
    Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. The need for autopsy in all young people dying suddenly including those with epilepsy.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 · 2024
    Article
  20. Autopsy of all young sudden death cases is important to increase survival in family members left behind.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 · 2024
    Review

1 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

24 authors at 20 institutions in 12 countries.

Florence FellmannThe ColLaboratory, University of Lausanne, Lausanne, Switzerland. florence.fellmann@gmail.com.
Carla G van ElSection Community Genetics, Department of Clinical Genetics and Amsterdam Public Health research institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Philippe CharronAPHP, Referral center for inherited cardiac diseases, Sorbonne University, ICAN, INSERM UMRS1166, Hôpital Pitié-Salpêtrière, Paris, France.
Katarzyna MichaudUniversity Center of Legal Medicine Lausanne-Geneva, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.ORCID http://orcid.org/0000-0003-2681-2544
Heidi C HowardCentre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
Sarah N BoersJulius Center for Health Sciences and Primary Care, Department of Medical Humanities, University Medical Center Utrecht, Utrecht, The Netherlands.
Angus J ClarkeInstitute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-1200-9286
Anne-Marie DuguetUMR 1027, Inserm, Université Paul Sabatier-Toulouse III, Toulouse Cedex, France.
Francesca ForzanoClinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK.
Silke KaufersteinInstitute of legal medicine, University of Frankfurt, Frankfurt, Germany.
Hülya KayseriliMedical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Anneke LucassenClinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK.ORCID http://orcid.org/0000-0003-3324-4338
Álvaro MendesUnIGENe and CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.ORCID http://orcid.org/0000-0002-8766-7646
Christine PatchFlorence Nightingale Faculty, Nursing and Midwifery & Palliative Care, King's College London, London, UK.
Dragica RadojkovicInstitute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia.
Emmanuelle Rial-SebbagUMR 1027, Inserm, Université Paul Sabatier-Toulouse III, Toulouse Cedex, France.
Mary N SheppardEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.
Anne-Marie TasséPublic Population Project in Genomics and Society (P3G), McGill University and Genome Quebec Innovation Centre, Montreal, Canada.
Sehime G TemelDepartment of Medical Genetics and Department of Histology & Embryology, Faculty of Medicine, Bursa Uludag University, Gorukle, Bursa, Turkey.
Antti SajantilaDepartment of Forensic Medicine, University of Helsinki, Helsinki, Finland.
Cristina BassoEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.
Arthur A M WildeEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-0528-0852
Martina C CornelSection Community Genetics, Department of Clinical Genetics and Amsterdam Public Health research institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-5397-5544
on behalf of European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group on myocardial and pericardial diseases, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology
Amsterdam University Medical Centers · NLUniversité Toulouse III - Paul Sabatier · FRAmsterdam Neuroscience · NLBursa Uludağ Üni̇versi̇tesi̇ · TRCardiff University · GBGoethe University Frankfurt · DEHeidelberg University · DEInserm · FRKoç University · TRMcGill University and Génome Québec Innovation Centre · CAQueen Mary University of London · GBSt George's, University of London · GBSt Thomas' Hospital · GBUniversidade do Porto · PTUniversity Hospital of Lausanne · CHUniversity Hospital Southampton NHS Foundation Trust · GBUniversity of Belgrade · RSUniversity of Helsinki · FIUniversity of Lausanne · CHUniversity of Padua · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.

Indexed as

AutopsyDeath, Sudden, CardiacEuropean UnionGenetic TestingHeart DiseasesHumansMyocardium

Identifiers

PMID31235869
PMCPMC6870982
OpenAlexW2951580624

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.