Evidence map›Paper›PMID 28228157›Full record

ReviewGenome medicine2017

Genetics and genomics of dilated cardiomyopathy and systolic heart failure.

Upasana Tayal, Sanjay Prasad, Stuart A Cook

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Genome medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05180188 (A Clinical Trial, Investigating the Effect of a Home-based Moderate Intensity Training Program on Oxidative Capacity and Hemodynamics in Patients With Truncating Genetic Variants in TTN.), which is not on this map. Cited by 85 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
85citing papers in PubMed, 3 pooled it
11.8field-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.

NCT05180188 nacompletednot on this mapstarted 2022, after this paper: background citation

A Clinical Trial, Investigating the Effect of a Home-based Moderate Intensity Training Program on Oxidative Capacity and Hemodynamics in Patients With Truncating Genetic Variants in TTN.

TypeinterventionalSponsorRigshospitalet, DenmarkRan2022 to 2022Enrolled14ConditionsCardiomyopathies, Truncation Mutation, TTNArmsTraining
3 · Its place in the literature

Who cites it

85 citing papers in PubMed, 3 syntheses or guidelines pooled it, 152 citations in OpenAlex.

  1. Circulation. Genomic and precision medicine · 2023
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Cardiomyopathies and a brief insight into DOX-induced cardiomyopathy.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2025
    Review
  14. Review
  15. Global epidemiology of heart failure.Nature reviews. Cardiology · 2024
    Review
  16. Article
  17. Article
  18. Role ofCirculation. Genomic and precision medicine · 2024
    Article
  19. Review
  20. TargetingHeliyon · 2024
    Article

25 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

3 authors at 2 institutions in 3 countries.

Upasana TayalNational Heart Lung Institute, Imperial College London, Cale Street, London, SW3 6LY, UK.ORCID 0000-0003-2262-4626
Sanjay PrasadNational Heart Lung Institute, Imperial College London, Cale Street, London, SW3 6LY, UK.
Stuart A CookNational Heart Lung Institute, Imperial College London, Cale Street, London, SW3 6LY, UK. stuart.cook@duke-nus.edu.sg.
Royal Brompton Hospital · GBLung Institute · US

Funding

British Heart Foundation FS/13/13/29819British Heart Foundation SP/10/10/28431Medical Research Council MC_U120085815Medical Research Council MR/M003191/1Wellcome Trust
6 · The paper itself

Abstract

Heart failure is a major health burden, affecting 40 million people globally. One of the main causes of systolic heart failure is dilated cardiomyopathy (DCM), the leading global indication for heart transplantation. Our understanding of the genetic basis of both DCM and systolic heart failure has improved in recent years with the application of next-generation sequencing and genome-wide association studies (GWAS). This has enabled rapid sequencing at scale, leading to the discovery of many novel rare variants in DCM and of common variants in both systolic heart failure and DCM. Identifying rare and common genetic variants contributing to systolic heart failure has been challenging given its diverse and multiple etiologies. DCM, however, although rarer, is a reasonably specific and well-defined condition, leading to the identification of many rare genetic variants. Truncating variants in titin represent the single largest genetic cause of DCM. Here, we review the progress and challenges in the detection of rare and common variants in DCM and systolic heart failure, and the particular challenges in accurate and informed variant interpretation, and in understanding the effects of these variants. We also discuss how our increasing genetic knowledge is changing clinical management. Harnessing genetic data and translating it to improve risk stratification and the development of novel therapeutics represents a major challenge and unmet critical need for patients with heart failure and their families.

Indexed as

Genetic Predisposition to DiseaseGenetic VariationAnimalsCardiomyopathy, DilatedDisease ManagementGenomicsHeart Failure, SystolicHumans

Identifiers

PMID28228157
PMCPMC5322656
OpenAlexW2590445414

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.