Evidence map›Paper›PMID 29904160›Full record

GuidelineGenetics in medicine : official journal of the American College of Medical Genetics2018

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

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 and 1 more

Erratum issuedAbstract readGuideline
PubMed Publisher
In one paragraph

Guideline in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 159 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
159citing papers in PubMed, 5 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

159 citing papers in PubMed, 5 syntheses or guidelines pooled it.

  1. Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026
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  7. ThebioRxiv : the preprint server for biology · 2026
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  16. Case Report: Filamin-C (Frontiers in medicine · 2026
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  20. Review

99 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

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

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life.

methodsA writing group of cardiologists and genetics professionals updated guidance, first published in 2009 for the Heart Failure Society of America (HFSA), in a collaboration with the American College of Medical Genetics and Genomics (ACMG). Each recommendation was assigned to teams of individuals by expertise, literature was reviewed, and recommendations were decided by consensus of the writing group. Recommendations for family history, phenotype screening of at-risk family members, referral to expert centers as needed, genetic counseling, and cardiovascular therapies, informed in part by phenotype, are presented in the HFSA document.

resultsA genetic evaluation of cardiomyopathy is indicated with a cardiomyopathy diagnosis, which includes genetic testing. Guidance is also provided for clinical approaches to secondary findings from cardiomyopathy genes. This is relevant as cardiomyopathy is the phenotype associated with 27% of the genes on the ACMG list for return of secondary findings. Recommendations herein are considered expert opinion per current ACMG policy as no systematic approach to literature review was conducted.

conclusionGenetic testing is indicated for cardiomyopathy to assist in patient care and management of at-risk family members.

Indexed as

CardiomyopathiesGenetic CounselingGeneticsGenetics, MedicalGenetic TestingGenomicsGenotypeHumansIncidental FindingsMass ScreeningPhenotypeQuality of LifeUnited StatesCardiomyopathyGenetic analysisGeneticsPractice resourceSecondary findings

Identifiers

PMID29904160

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.