Evidence map›Paper›PMID 28007147›Full record

ReviewJournal of the American College of Cardiology2016

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.

Michael A Burke, Stuart A Cook, Jonathan G Seidman, Christine E Seidman

Abstract readReview
In one paragraph

Review in Journal of the American College of Cardiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 181 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
181citing 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

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

  1. Pooled it
  2. Guideline
  3. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Guideline
  4. Trial
  5. Contribution of Noncanonical Splice Variants toCirculation. Genomic and precision medicine · 2021
    Trial
  6. Trial
  7. Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
    Review
  20. Review

121 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

4 authors.

Michael A BurkeDivision of Cardiology, Emory University School of Medicine, Atlanta, Georgia; Department of Genetics, Harvard Medical School, Boston, Massachusetts.
Stuart A CookNational Heart & Lung Institute, Imperial College London, London, United Kingdom; National Heart Centre Singapore, Singapore; Duke-National University of Singapore, Singapore.
Jonathan G SeidmanDepartment of Genetics, Harvard Medical School, Boston, Massachusetts.
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, Massachusetts; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland. Electronic address: cseidman@genetics.med.harvard.edu.

Funding

Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
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
Harvard Regional Clinical Center of the NHLBI Heart Failure NetworkU10HL110337 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI GIVERTZ, MICHAEL M, LEWIS, GREGORY DYER · 2012 to 2018
$3.5M
Howard Hughes Medical InstituteNHGRI NIH HHS U01 HG006500NHLBI NIH HHS R01 HL080494NHLBI NIH HHS R01 HL084553NHLBI NIH HHS U10 HL110337
6 · The paper itself

Abstract

Over the last quarter-century, there has been tremendous progress in genetics research that has defined molecular causes for cardiomyopathies. More than a thousand mutations have been identified in many genes with varying ontologies, therein indicating the diverse molecules and pathways that cause hypertrophic, dilated, restrictive, and arrhythmogenic cardiomyopathies. Translation of this research to the clinic via genetic testing can precisely group affected patients according to molecular etiology, and identify individuals without evidence of disease who are at high risk for developing cardiomyopathy. These advances provide insights into the earliest manifestations of cardiomyopathy and help to define the molecular pathophysiological basis for cardiac remodeling. Although these efforts remain incomplete, new genomic technologies and analytic strategies provide unparalleled opportunities to fully explore the genetic architecture of cardiomyopathies. Such data hold the promise that mutation-specific pathophysiology will uncover novel therapeutic targets, and herald the beginning of precision therapy for cardiomyopathy patients.

Indexed as

CardiomyopathiesGenetic TestingGenomicsHumansPhenotypedilated cardiomyopathygeneticsgenetic testinghypertrophic cardiomyopathymolecular etiologyrestrictive cardiomyopathy

Identifiers

PMID28007147
PMCPMC5843375

What OpenQuestion holds

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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.