Evidence map›Paper›PMID 29567486›Full record

ReviewJournal of cardiac failure2018

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.

Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware

Abstract readReview
In one paragraph

Review in Journal of cardiac failure, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 210 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
210citing papers in PubMed, 6 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

210 citing papers in PubMed, 6 syntheses or guidelines pooled it.

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150 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

10 authors.

Ray E HershbergerDivision of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio; Division of Cardiovascular Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio. Electronic address: Ray.Hershberger@osumc.edu.
Michael M GivertzCardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.
Carolyn Y HoCardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.
Daniel P JudgeDivision of Cardiology, Medical University of South Carolina, Charleston, South Carolina.
Paul F KantorDivision of Pediatric Cardiology, University of Alberta and Stollery Children's Hospital, Edmonton, Canada.
Kim L McBrideCenter for Cardiovascular Research, Nationwide Children's Hospital, and Department of Pediatrics, Ohio State University, Columbus Ohio.
Ana MoralesDivision of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio.
Matthew R G TaylorAdult Medical Genetics Program, Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Matteo VattaInvitae Corporation, San Francisco, California; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana.
Stephanie M WareDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.

Funding

Transcriptional regulation of cardiac morphogenesisP01HL134599 · NHLBI · INDIANA UNIVERSITY INDIANAPOLIS · PI Anthony B. Firulli · 2017 to 2026
$25.7M
NHLBI NIH HHS P01 HL134599
6 · The paper itself

Abstract

This guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the guideline has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine. The genetic evaluation of cardiomyopathy is a rapidly emerging key clinical priority, because high-throughput sequencing is now feasible for clinical testing and conventional interventions can improve survival, reduce morbidity, and enhance quality of life. Moreover, specific interventions may be guided by genetic analysis. A systematic approach is recommended: always a comprehensive family history; an expert phenotypic evaluation of the proband and at-risk family members to confirm a diagnosis and guide genetic test selection and interpretation; referral to expert centers as needed; genetic testing, with pre- and post-test genetic counseling; and specific guidance as indicated for drug and device therapies. The evaluation of infants and children demands special expertise. The approach to managing secondary and incidental sequence findings as recommended by the ACMG is provided.

Indexed as

Heart FailurePractice Guidelines as TopicSocieties, MedicalCardiomyopathiesGenetic CounselingGenetics, MedicalGenetic TestingGenotypeHumansPhenotypeCardiomyopathygenetic analysisgeneticspractice guidelinesecondary findings

Identifiers

PMID29567486
PMCPMC9903357

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.