Evidence map›Paper›PMID 29525643›Full record

ReviewHeart failure clinics2018

Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy.

Amanda C Garfinkel, Jonathan G Seidman, Christine E Seidman

Abstract readReview
In one paragraph

Review in Heart failure clinics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed, 3 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

74 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Contribution of Noncanonical Splice Variants toCirculation. Genomic and precision medicine · 2021
    Trial
  6. Article
  7. Beta-Adrenergic Stimulation andbioRxiv : the preprint server for biology · 2026
    Article
  8. Contrasting the genetic architecture of cardiac glutathione against other organs: unveiling a unique tissue-specific locus.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Article
  9. Frontiers in bioengineering and biotechnology · 2026
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Barth Syndrome:Genes · 2025
    Review
  18. Article
  19. Article
  20. Review

14 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.

Amanda C GarfinkelDepartment of Genetics, Harvard Medical School, New Research Building Room 256, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.
Jonathan G SeidmanDepartment of Genetics, Harvard Medical School, New Research Building Room 256, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.
Christine E SeidmanDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA; Department of Genetics, Brigham and Women's Hospital, Harvard Medical School, New Research Building Room 256, 77 Avenue Louis Pasteur, Boston, MA 02115, USA; Howard Hughes Medical Institute, 4000 Jones Bridge Road, Chevy Chase, MD 20815, USA. Electronic address: cseidman@genetics.med.harvard.edu.

Funding

Defining Pathways from Gene Mutation to Heart FailureR01HL080494 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI CHEN, CHRISTOPHER S, SEIDMAN, CHRISTINE E · 2005 to 2024
$9.4M
Molecular Signaling in Hypertrophic CardiomyopathyR01HL084553 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2007 to 2022
$5.9M
Howard Hughes Medical InstituteNHLBI NIH HHS R01 HL080494NHLBI NIH HHS R01 HL084553
6 · The paper itself

Abstract

Sarcomere cardiomyopathies are genetic diseases that perturb contractile function and lead to hypertrophic or dilated myocardial remodeling. Identification of preclinical mutation carriers has yielded insights into the earliest biomechanical defects that link pathogenic variants to cardiac dysfunction. Understanding this early molecular pathophysiology can illuminate modifiable pathways to reduce the emergence of overt cardiomyopathy and curb adverse outcomes. Here, the authors review current understandings of how human hypertrophic cardiomyopathy- and hypertrophic dilated cardiomyopathy-linked mutations disrupt the normal structure and function of the sarcomere.

Indexed as

Cardiomyopathy, DilatedCardiomyopathy, HypertrophicHumansSarcomeresDilated cardiomyopathyHypertrophic cardiomyopathyInteracting-heads motifSarcomere physiology

Identifiers

PMID29525643
PMCPMC5851453

What OpenQuestion holds

Textmetadata
LicenceTDM
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.