Evidence map›Paper›PMID 38984491›Full record

ReviewEuropean heart journal2024

Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice.

Luis R Lopes, Carolyn Y Ho, Perry M Elliott

Abstract readReview
In one paragraph

Review in European heart journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
73citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

73 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026
    Pooled it
  2. Pooled it
  3. Precision modification of heart failure signaling by CRISPR-Cas9 base editing.Journal of molecular and cellular cardiology · 2026
    Review
  4. Sex Differences in Hypertrophic Cardiomyopathy.Current cardiology reports · 2026
    Review
  5. Article
  6. Article
  7. Article
  8. Biologics for cardiovascular diseases: from bench to bedside.Signal transduction and targeted therapy · 2026
    Review
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  11. Review
  12. Review
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  14. Article
  15. Article
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  19. iScience · 2026
    Article
  20. Review

13 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.

Luis R LopesBarts Heart Centre, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK.ORCID 0000-0002-6408-4667
Carolyn Y HoCardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA.
Perry M ElliottBarts Heart Centre, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK.

Funding

Medical Research Council MR/T005181/1MRC UKRI CARP MR/T005181/1
6 · The paper itself

Abstract

Pathogenic variation in genes encoding proteins of the cardiac sarcomere is responsible for 30%-40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic testing is to provide diagnostic confirmation and facilitation of family screening. It also assists in the detection of aetiologies, which require distinct monitoring and treatment approaches. Other clinical applications, including the use of genetic information to inform risk prediction models, have been limited by the challenge of establishing robust genotype-phenotype correlations with actionable consequences, but new data on the interaction between rare and common genetic variation, as well as the emergence of therapies targeting disease-specific pathogenic mechanisms, herald a new era for genetic testing in routine practice.

Indexed as

Cardiomyopathy, HypertrophicGenetic TestingSarcomeresGenetic Predisposition to DiseaseGenetic VariationHumansMutationGenetic testingGenetic therapyHypertrophic cardiomyopathyMyosin inhibitorsPrecision therapy

Identifiers

PMID38984491
PMCPMC11313585

What OpenQuestion holds

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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.