Evidence map›Paper›PMID 19808347›Full record

ReviewCirculation. Heart failure2009

Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Ray E Hershberger, Jason Cowan, Ana Morales, Jill D Siegfried

Open access · bronzeAbstract readReview
In one paragraph

Review in Circulation. Heart failure, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
88citing papers in PubMed, 1 pooled it
12.8field-weighted citation impact, top 1% 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

88 citing papers in PubMed, 1 synthesis or guideline pooled it, 218 citations in OpenAlex.

  1. Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2017
    Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. The Impact of Mavacamten on the Pathophysiology of Hypertrophic Cardiomyopathy: A Narrative Review.American journal of cardiovascular drugs : drugs, devices, and other interventions · 2022
    Review
  13. Genetic predisposition study of heart failure and its association with cardiomyopathy.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2022
    Review
  14. Article
  15. Article
  16. Loss of Consciousness in the Young Child.Pediatric cardiology · 2021
    Review
  17. Review
  18. Article
  19. Article
  20. hiPSC-Derived Cardiac Tissue for Disease Modeling and Drug Discovery.International journal of molecular sciences · 2020
    Review

28 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 at 1 institution in 1 country.

Ray E HershbergerCardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla 33136, USA. rhershberger@med.miami.edu
Jason Cowan
Ana Morales
Jill D Siegfried
University of Miami · US

Funding

FAMILIAL DILATED CARDIOMYOPATHY--DETECTION/GENE MAPPINGR01HL058626 · NHLBI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI HERSHBERGER, RAY E. · 1998 to 2011
$6.0M
NHLBI NIH HHS R01 HL058626NHLBI NIH HHS R01-HL58626
6 · The paper itself

Abstract

This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy, with salient features of hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy, regarding genetic etiology, genetic testing, and genetic counseling. Enormous progress has recently been made in identifying genetic causes for each cardiomyopathy, and key phenotype and genotype information is reviewed. Clinical genetic testing is rapidly emerging with a principal rationale of identifying at-risk asymptomatic or disease-free relatives. Knowledge of a disease-causing mutation can guide clinical surveillance for disease onset, thereby enhancing preventive and treatment interventions. Genetic counseling is also indicated for patients and their family members regarding the symptoms of their cardiomyopathy, its inheritance pattern, family screening recommendations, and genetic testing options and possible results.

Indexed as

Genetic CounselingGenetic TestingMutationArrhythmogenic Right Ventricular DysplasiaCardiomyopathy, DilatedCardiomyopathy, Hypertrophic, FamilialGenetic Predisposition to DiseaseHumansMass ScreeningPedigreePhenotypePredictive Value of TestsRisk Assessment

Identifiers

PMID19808347
PMCPMC2927103
OpenAlexW2546580166

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.