Evidence map›Paper›PMID 29457878›Full record

ArticleESC heart failure2018

Genetic determinants of heart failure: facts and numbers.

Frauke S Czepluch, Bernd Wollnik, Gerd Hasenfuß

Registry-linked trialOpen access · goldAbstract readEditorial
In one paragraph

Article in ESC heart failure, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03590522 (Role of Amino Acids and Genetic Disorder in Pathogenesis of Heart Failure), which is not on this map. Cited by 33 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
3.1field-weighted citation impact, top 8% 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.

NCT03590522 unknown statusnot on this mapstarted 2019, after this paper: background citation

Role of Amino Acids and Genetic Disorder in Pathogenesis of Heart Failure

TypeobservationalSponsorAssiut UniversityRan2019 to 2019Enrolled50ConditionsHeart FailureArmsRyanodine Receptor 2 gene expression
3 · Its place in the literature

Who cites it

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

  1. Pooled it
  2. Pooled it
  3. Review
  4. Review
  5. Review
  6. Article
  7. Review
  8. Review
  9. Global epidemiology of heart failure.Nature reviews. Cardiology · 2024
    Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. The Role of Personalized Medicine in Companion Animal Cardiology.The Veterinary clinics of North America. Small animal practice · 2023
    Review
  17. The Role of Genetics in the Management of Heart Failure Patients.International journal of molecular sciences · 2023
    Review
  18. Article
  19. Interaction ofZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023
    Article
  20. Genome Editing and Heart Failure.Advances in experimental medicine and biology · 2023
    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

3 authors at 2 institutions in 1 country.

Frauke S CzepluchDepartment of Cardiology and Pulmonary Medicine, University Medical Center Göttingen, Göttingen, Germany.
Bernd WollnikInstitute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Gerd HasenfußDepartment of Cardiology and Pulmonary Medicine, University Medical Center Göttingen, Göttingen, Germany.
University of Göttingen · DEUniversitätsmedizin Göttingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing. Due to this development, genetic testing has become increasingly accessible and NGS-based sequencing is now applied in clinical routine diagnostics. One of the most common reasons of heart failure are cardiomyopathies such as the dilated or the hypertrophic cardiomyopathy. Nearly 100 disease-associated genes have been identified for cardiomyopathies. The knowledge of a pathogenic mutation can be used for genetic counselling, risk and prognosis determination, therapy guidance and hence for a more effective treatment. Besides, family cascade screening for a known familial, pathogenic mutation can lead to an early diagnosis in affected individuals. At that timepoint, a preventative intervention could be used to avoid or delay disease onset or delay disease progression. Understanding the cellular basis of genetic heart failure syndromes in more detail may provide new insights into the molecular biology of physiological and impaired cardiac (cell) function. As our understanding of the molecular and genetic pathophysiology of heart failure will increase, this might help to identify novel therapeutic targets and may lead to the development of new and specific treatment options in patients with heart failure.

Indexed as

Genetic Predisposition to DiseaseMutationGenetic CounselingGenetic TestingHeart FailureHigh-Throughput Nucleotide SequencingHumanscardiogeneticscardiomyopathyDCMHCMheart failure

Identifiers

PMID29457878
PMCPMC5933969
OpenAlexW2791970545

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.