Evidence map›Paper›PMID 40314344›Full record

ArticleJournal of the American Heart Association2025

Environmental Risk Factors Are Associated With the Natural History of Familial Dilated Cardiomyopathy.

Stacey A Peters, Leah Wright, Jess Yao, Lauren McCall, Tina Thompson, Bryony Thompson, Renee Johnson, Quan Huynh, Celine F Santiago, Alison Trainer and 6 more

Abstract read
In one paragraph

Article in Journal of the American Heart Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 2 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

6 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026
    Pooled it
  2. Pooled it
  3. Review
  4. Observational
  5. Article
  6. Discovery ofDiagnostics (Basel, Switzerland) · 2025
    Article
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

16 authors.

Stacey A PetersDepartment of Cardiology Royal Melbourne Hospital Melbourne Victoria Australia.ORCID 0000-0002-3593-3228
Leah WrightBaker Heart and Diabetes Institute, and Baker Department of Cardiometabolic Health University of Melbourne Melbourne Victoria Australia.
Jess YaoDepartment of Cardiology Royal Melbourne Hospital Melbourne Victoria Australia.ORCID 0000-0001-8974-4265
Lauren McCallDepartment of Genomic Medicine Royal Melbourne Hospital Melbourne Victoria Australia.
Tina ThompsonDepartment of Genomic Medicine Royal Melbourne Hospital Melbourne Victoria Australia.ORCID 0000-0002-9405-6595
Bryony ThompsonDepartment of Genomic Medicine Royal Melbourne Hospital Melbourne Victoria Australia.ORCID 0000-0001-8655-1839
Renee JohnsonMolecular Cardiology Division Victor Chang Cardiac Research Institute Sydney New South Wales Australia.ORCID 0000-0002-8979-2096
Quan HuynhBaker Heart and Diabetes Institute, and Baker Department of Cardiometabolic Health University of Melbourne Melbourne Victoria Australia.ORCID 0000-0003-1368-5160
Celine F SantiagoMolecular Cardiology Division Victor Chang Cardiac Research Institute Sydney New South Wales Australia.
Alison TrainerDepartment of Genomic Medicine Royal Melbourne Hospital Melbourne Victoria Australia.
Mark PerrinDepartment of Cardiology Royal Melbourne Hospital Melbourne Victoria Australia.ORCID 0000-0001-9813-4338
Paul JamesDepartment of Genomic Medicine Royal Melbourne Hospital Melbourne Victoria Australia.ORCID 0000-0002-4361-4657
Dominica ZentnerDepartment of Cardiology Royal Melbourne Hospital Melbourne Victoria Australia.ORCID 0000-0003-0437-1581
Jon KalmanDepartment of Cardiology Royal Melbourne Hospital Melbourne Victoria Australia.ORCID 0000-0002-6618-7184
Thomas H MarwickBaker Heart and Diabetes Institute, and Baker Department of Cardiometabolic Health University of Melbourne Melbourne Victoria Australia.ORCID 0000-0001-9065-0899
Diane FatkinMolecular Cardiology Division Victor Chang Cardiac Research Institute Sydney New South Wales Australia.ORCID 0000-0002-9010-9856

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial dilated cardiomyopathy (DCM) is characterized by marked variability in phenotypic penetrance. The extent to which this is determined by patient-specific environmental factors is unknown. METHODS AND

resultsA retrospective longitudinal cohort study was performed in families with DCM-causing genetic variants. Environmental factors were classified into 2 subsets based on evidence for a causal link to depressed myocardial contractility, termed (1) DCM-promoting factors and (2) heart failure comorbidities. These factors were correlated with DCM diagnosis and disease trajectory after accounting for relevant confounders and familial relatedness. A total of 105 probands and family members were recruited: 51 genotype positive, phenotype positive, 24 genotype positive, phenotype negative, and 30 genotype negative, phenotype negative. Demographic characteristics were similar between the 3 genotype groups. DCM-promoting environmental factors (eg, alcohol excess) were enriched in genotype-positive, phenotype-positive individuals compared with genotype-positive, phenotype-negative (

conclusionsWe identified distinct subsets of environmental factors that affect DCM penetrance and trajectory. Our data highlight DCM-promoting environmental factors as key determinants of penetrance and natural history. Collectively, these findings provide a new framework for risk factor assessment in familial DCM and have important implications for clinical management.

Indexed as

Cardiomyopathy, DilatedGene-Environment InteractionAdultAge of OnsetAlcohol DrinkingDisease ProgressionFemaleGenetic Predisposition to DiseaseGenotypeHeart FailureHumansLongitudinal StudiesMaleMiddle AgedPedigreePhenotypegeneticheart failurenatural historypenetrancerisk modifierstrajectory

Identifiers

PMID40314344
PMCPMC12184215

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.