Evidence map›Paper›PMID 29800419›Full record

ReviewCardiovascular research2018

Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.

Antoine Bondue, Eloisa Arbustini, Anna Bianco, Michele Ciccarelli, Dana Dawson, Matteo De Rosa, Nazha Hamdani, Denise Hilfiker-Kleiner, Benjamin Meder, Adelino F Leite-Moreira and 6 more

Open access · bronzeAbstract readReview
In one paragraph

Review in Cardiovascular research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed, 2 pooled it
10.2field-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

57 citing papers in PubMed, 2 syntheses or guidelines pooled it, 106 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Tailored therapeutics for cardiomyopathies.Nature reviews. Cardiology · 2025
    Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Review
  11. Article
  12. Observational
  13. Review
  14. The Role of Genetics in the Management of Heart Failure Patients.International journal of molecular sciences · 2023
    Review
  15. Review
  16. Article
  17. Review
  18. Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort study.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 · 2023
    Article
  19. Article
  20. 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

16 authors at 12 institutions in 7 countries.

Antoine BondueDepartment of Cardiology, CUB Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Eloisa ArbustiniCentre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
Anna BiancoDepartment of Translational Medical Sciences, Federico II University, Naples, Italy.
Michele CiccarelliSchool of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy.
Dana DawsonSchool of Medicine and Dentistry, University of Aberdeen, Aberdeen, UK.
Matteo De RosaSchool of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy.
Nazha HamdaniDepartment of Systems Physiology, Ruhr University Bochum, Bochum, Germany.
Denise Hilfiker-KleinerMolecular Cardiology, Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany.
Benjamin MederDepartment of Cardiology, Heidelberg University, Heidelberg, Germany.
Adelino F Leite-MoreiraCardiovascular R&D Unit, Department of Surgery and Physiology, Faculty of Medicine, University of Porto, Porto, Portugal.
Thomas ThumInstitute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany.
Carlo G TocchettiDepartment of Translational Medical Sciences, Federico II University, Naples, Italy.
Gilda VarricchiDepartment of Translational Medical Sciences, Federico II University, Naples, Italy.
Jolanda Van der VeldenDepartment of Physiology, VU University Medical Centre, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.
Roddy WalshCardiovascular Research Center, Royal Brompton and Harefield NHS Foundation Trust and Imperial College London, London, UK.
Stephane HeymansDepartment of Cardiology, Maastricht University Medical Center & CARIM, Maastricht University, Maastricht, The Netherlands.
Federico II University Hospital · ITMedizinische Hochschule Hannover · DEUniversity of Salerno · ITHeidelberg University · DEImperial College London · GBIstituti di Ricovero e Cura a Carattere Scientifico · ITMaastricht University · NLNetherlands Heart Institute · NLRuhr University Bochum · DEUniversidade do Porto · PTUniversité Libre de Bruxelles · BEUniversity of Aberdeen · GB

Funding

British Heart Foundation SP/10/10/28431Department of HealthWellcome TrustWellcome Trust 107469/Z/15/Z
6 · The paper itself

Abstract

Dilated cardiomyopathy (DCM) frequently affects relatively young, economically, and socially active adults, and is an important cause of heart failure and transplantation. DCM is a complex disease and its pathological architecture encounters many genetic determinants interacting with environmental factors. The old perspective that every pathogenic gene mutation would lead to a diseased heart, is now being replaced by the novel observation that the phenotype depends not only on the penetrance-malignancy of the mutated gene-but also on epigenetics, age, toxic factors, pregnancy, and a diversity of acquired diseases. This review discusses how gene mutations will result in mutation-specific molecular alterations in the heart including increased mitochondrial oxidation (sarcomeric gene e.g. TTN), decreased calcium sensitivity (sarcomeric genes), fibrosis (e.g. LMNA and TTN), or inflammation. Therefore, getting a complete picture of the DCM patient will include genomic data, molecular assessment by preference from cardiac samples, stratification according to co-morbidities, and phenotypic description. Those data will help to better guide the heart failure and anti-arrhythmic treatment, predict response to therapy, develop novel siRNA-based gene silencing for malignant gene mutations, or intervene with mutation-specific altered gene pathways in the heart.This article is part of the Mini Review Series from the Varenna 2017 meeting of the Working Group of Myocardial Function of the European Society of Cardiology.

Indexed as

MutationAnimalsCardiomyopathy, DilatedGene-Environment InteractionGenetic Predisposition to DiseaseHumansMyocardial ContractionMyocardiumPhenotypePrognosisRisk FactorsSarcomeresVentricular Function

Identifiers

PMID29800419
PMCPMC6054212
OpenAlexW2804857783

What OpenQuestion holds

Textmetadata
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.