Evidence map›Paper›PMID 34638741›Full record

ReviewInternational journal of molecular sciences2021

Genetic Testing in Patients with Hypertrophic Cardiomyopathy.

Jiri Bonaventura, Eva Polakova, Veronika Vejtasova, Josef Veselka

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
5.6field-weighted citation impact, top 3% 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

28 citing papers in PubMed, 47 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
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  13. Article
  14. Review
  15. Article
  16. Article
  17. High prevalence ofFrontiers in cardiovascular medicine · 2024
    Article
  18. Review
  19. Article
  20. Genetic and Molecular Mechanisms of Hypertrophic Cardiomyopathy.International journal of molecular sciences · 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

4 authors at 1 institution in 1 country.

Jiri BonaventuraDepartment of Cardiology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, V Uvalu 84, 15006 Prague, Czech Republic.ORCID 0000-0003-0470-9909
Eva PolakovaDepartment of Cardiology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, V Uvalu 84, 15006 Prague, Czech Republic.
Veronika VejtasovaDepartment of Cardiology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, V Uvalu 84, 15006 Prague, Czech Republic.ORCID 0000-0001-9118-7218
Josef VeselkaDepartment of Cardiology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, V Uvalu 84, 15006 Prague, Czech Republic.
Charles University · CZ

Funding

Conceptual Development of Research Organization, Motol University Hospital, Prague grant No. 00064203Ministry of Health of the Czech Republic grant No. 15-34904A
6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with an estimated prevalence of up to 1 in 200 individuals. In the majority of cases, HCM is considered a Mendelian disease, with mainly autosomal dominant inheritance. Most pathogenic variants are usually detected in genes for sarcomeric proteins. Nowadays, the genetic basis of HCM is believed to be rather complex. Thousands of mutations in more than 60 genes have been described in association with HCM. Nevertheless, screening large numbers of genes results in the identification of many genetic variants of uncertain significance and makes the interpretation of the results difficult. Patients lacking a pathogenic variant are now believed to have non-Mendelian HCM and probably have a better prognosis than patients with sarcomeric pathogenic mutations. Identifying the genetic basis of HCM creates remarkable opportunities to understand how the disease develops, and by extension, how to disrupt the disease progression in the future. The aim of this review is to discuss the brief history and recent advances in the genetics of HCM and the application of molecular genetic testing into common clinical practice.

Indexed as

Genetic TestingMutationCardiomyopathy, HypertrophicHumansMuscle ProteinsSarcomeresMuscle Proteinsgeneticshypertrophic cardiomyopathymolecular genetic testingnext-generation sequencingpathogenic mutationsvariants of uncertain significance

Identifiers

PMID34638741
PMCPMC8509044
OpenAlexW3202054996

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.