Evidence map›Paper›PMID 31514951›Full record

ArticleJournal of the American College of Cardiology2019

Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy.

Marta Gigli, Marco Merlo, Sharon L Graw, Giulia Barbati, Teisha J Rowland, Dobromir B Slavov, Davide Stolfo, Mary E Haywood, Matteo Dal Ferro, Alessandro Altinier and 10 more

Open access · greenAbstract read
In one paragraph

Article in Journal of the American College of Cardiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 161 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
161citing papers in PubMed, 5 pooled it
19.8field-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

161 citing papers in PubMed, 5 syntheses or guidelines pooled it, 277 citations in OpenAlex.

  1. Pooled it
  2. Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026
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  9. Homozygous NonsenseJournal of clinical medicine · 2026
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101 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors at 4 institutions in 4 countries.

Marta GigliCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Marco MerloCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy.
Sharon L GrawCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Giulia BarbatiBiostatistics Unit, Department of Medical Sciences, University of Trieste, Trieste, Italy.
Teisha J RowlandCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Dobromir B SlavovCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Davide StolfoCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy.
Mary E HaywoodCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Matteo Dal FerroCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy.
Alessandro AltinierCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy.
Federica RamaniCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy.
Francesca BrunCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy.
Andrea CoccioloCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Ilaria PuggiaCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Gaetano MoreaCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
William J McKennaInstitute of Cardiovascular Science, University College London, London, United Kingdom; Heart Hospital, Hamad Medical Corporation, Doha, Qatar.
Francisco G La RosaDepartment of Pathology, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Matthew R G TaylorCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado. Electronic address: matthew.taylor@ucdenver.edu.
Gianfranco SinagraCardiovascular Department, Azienda Sanitaria-Universitaria Integrata Trieste "ASUITS," Trieste, Italy.
Luisa MestroniCardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado. Electronic address: Luisa.Mestroni@ucdenver.edu.
Azienda Sanitaria Universitaria Integrata di Trieste · ITUniversity of Colorado Anschutz Medical Campus · USUniversity College London · GBUniversity of Trieste · IT

Funding

NIH Prior Approval Process ProfessionalUL1TR002535 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2018 to 2022
$51.1M
Colorado Clinical and Translational Sciences InstituteUL1TR001082 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$48.0M
Genetics, Mechanisms and Clinical Phenotypes of Arrhythmogenic CardiomyopathyR01HL116906 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI MARCUS, FRANK I, MESTRONI, LUISA · 2013 to 2016
$9.2M
Molecular Epidemiology of Dilated CardiomyopathR01HL069071 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI MESTRONI, LUISA · 2002 to 2005
$2.3M
Whole genome DNA sequencing to identify novel genes in dilated cardiomyopathyR01HL109209 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI TAYLOR, MATTHEW R · 2012 to 2016
$2.1M
Cardiomyocyte phenotype and mechanotransduction in Filamin C gene variants causing arrhythmogenic cardiomyopathyR01HL147064 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI MESTRONI, LUISA, TAYLOR, MATTHEW R · 2020 to 2023
$2.1M
Familial Dilated Cardiomyopathy:Genetic CharacterizationK23HL067915 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI TAYLOR, MATTHEW R · 2002 to 2006
$653k
American Heart Association-American Stroke Association 17GRNT33670495NCATS NIH HHS UL1 TR001082NCATS NIH HHS UL1 TR002535NHLBI NIH HHS K23 HL067915NHLBI NIH HHS R01 HL069071NHLBI NIH HHS R01 HL109209NHLBI NIH HHS R01 HL116906NHLBI NIH HHS R01 HL147064
6 · The paper itself

Abstract

backgroundGenotype-phenotype correlations in dilated cardiomyopathy (DCM) and, in particular, the effects of gene variants on clinical outcomes remain poorly understood.

objectivesThe purpose of this study was to investigate the prognostic role of genetic variant carrier status in a large cohort of DCM patients.

methodsA total of 487 DCM patients were analyzed by next-generation sequencing and categorized the disease genes into functional gene groups. The following composite outcome measures were assessed: 1) all-cause mortality; 2) heart failure-related death, heart transplantation, or destination left ventricular assist device implantation (DHF/HTx/VAD); and 3) sudden cardiac death/sustained ventricular tachycardia/ventricular fibrillation (SCD/VT/VF).

resultsA total of 183 pathogenic/likely pathogenic variants were found in 178 patients (37%): 54 (11%) Titin; 19 (4%) Lamin A/C (LMNA); 24 (5%) structural cytoskeleton-Z disk genes; 16 (3.5%) desmosomal genes; 46 (9.5%) sarcomeric genes; 8 (1.6%) ion channel genes; and 11 (2.5%) other genes. All-cause mortality was no different between variant carriers and noncarriers (p = 0.99). A trend toward worse SCD/VT/VF (p = 0.062) and DHF/HTx/VAD (p = 0.061) was found in carriers. Carriers of desmosomal and LMNA variants experienced the highest rate of SCD/VT/VF, which was independent of the left ventricular ejection fraction.

conclusionsDesmosomal and LMNA gene variants identify the subset of DCM patients who are at greatest risk for SCD and life-threatening ventricular arrhythmias, regardless of the left ventricular ejection fraction.

Indexed as

AdultArrhythmias, CardiacCardiomyopathy, DilatedCross-Sectional StudiesFemaleGenetic VariationHumansMaleMiddle AgedPhenotypePrognosisRisk AssessmentRisk Factorsdesmosomal mutationsdilated cardiomyopathygenotype-phenotype correlationprognosis

Identifiers

PMID31514951
PMCPMC6750731
OpenAlexW2972803773

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Registered trials

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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.