Evidence map›Paper›PMID 28840316›Full record

SynthesisClinical research in cardiology : official journal of the German Cardiac Society2018

Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.

Farbod Sedaghat-Hamedani, Elham Kayvanpour, Oguz Firat Tugrul, Alan Lai, Ali Amr, Jan Haas, Tanja Proctor, Philipp Ehlermann, Katrin Jensen, Hugo A Katus and 1 more

Abstract readMeta-AnalysisReview
PubMed Publisher
In one paragraph

Synthesis in Clinical research in cardiology : official journal of the German Cardiac Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
94citing papers in PubMed, 3 pooled it
7.7field-weighted citation impact, top 2% 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

94 citing papers in PubMed, 3 syntheses or guidelines pooled it, 176 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Clinical and genetic insights into non-compaction: a meta-analysis and systematic review on 7598 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2019
    Pooled it
  4. Trial
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Review
  12. Review
  13. Article
  14. Early Cytoskeletal Remodeling Drives Hypertrophic Cardiomyopathy Pathogenesis inJournal of cardiovascular development and disease · 2025
    Article
  15. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
    Review
  16. Article
  17. Review
  18. Article
  19. Article
  20. Article

34 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

11 authors at 1 institution in 1 country.

Farbod Sedaghat-HamedaniInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
Elham KayvanpourInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
Oguz Firat TugrulInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
Alan LaiInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
Ali AmrInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
Jan HaasInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
Tanja ProctorInstitute of Medical Biometry and Informatics, University of Heidelberg, Heidelberg, Germany.
Philipp EhlermannInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
Katrin JensenInstitute of Medical Biometry and Informatics, University of Heidelberg, Heidelberg, Germany.
Hugo A KatusInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
Benjamin MederInstitute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany. Benjamin.Meder@med.uni-heidelberg.de.ORCID http://orcid.org/0000-0003-0741-2633
Heidelberg University · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, which goes along with increased risk for sudden cardiac death (SCD). Despite the knowledge about the different causal genes, the relationship between individual genotypes and phenotypes is incomplete. METHODS AND

resultsWe retrieved PubMed/Medline literatures on genotype-phenotype associations in patients with HCM and mutations in MYBPC3, MYH7, TNNT2, and TNNI3. Altogether, 51 studies with 7675 HCM patients were included in our meta-analysis. The average frequency of mutations in MYBPC3 (20%) and MYH7 (14%) was higher than TNNT2 and TNNI3 (2% each). The mean age of HCM onset for MYH7 mutation positive patients was the beginning of the fourth decade, significantly earlier than patients without sarcomeric mutations. A high male proportion was observed in TNNT2 (69%), MYBPC3 (62%) and mutation negative group (64%). Cardiac conduction disease, ventricular arrhythmia and heart transplantation (HTx) rate were higher in HCM patients with MYH7 mutations in comparison to MYBPC3 (p < 0.05). Furthermore, SCD was significantly higher in patients with sarcomeric mutations (p < 0.01).

conclusionA pooled dataset and a comprehensive genotype-phenotype analysis show that the age at disease onset of HCM patients with MYH7 is earlier and leads to a more severe phenotype than in patient without such mutations. Furthermore, patients with sarcomeric mutations are more susceptible to SCD. The present study further supports the clinical interpretation of sarcomeric mutations in HCM patients.

Indexed as

MutationAdultAgedAge of OnsetCardiac MyosinsCardiomyopathy, HypertrophicCarrier ProteinsCase-Control StudiesDeath, Sudden, CardiacFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHeart TransplantationHumansMaleMiddle AgedCardiac MyosinsCarrier ProteinsMYH7 protein, humanMyosin Binding Protein CMyosin Heavy ChainsTNNT2 protein, humanTroponin ITroponin TGenotype–phenotype correlationHypertrophic cardiomyopathySarcomeric mutations

Identifiers

PMID28840316
OpenAlexW2745956749

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.