Evidence map›Paper›PMID 41032333›Full record

ArticleJAMA cardiology2025

Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy-Related Cardiomyopathies.

Dimitri J Maamari, Kiran J Biddinger, Sean J Jurgens, Joel T Rämö, Liam Gaziano, Alice Zheng, Saketh P Challa, Dolphurs Hayes, Carlos A Gongora, Seung Hoan Choi and 11 more

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JAMA cardiology, 2025. 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 5 papers.

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

5 citing papers in PubMed.

  1. Review
  2. Observational
  3. Article
  4. Error in Figure.JAMA cardiology · 2025
    Article
  5. Cardio-Oncology and Multi-Imaging Modalities.Journal of clinical medicine · 2025
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Dimitri J MaamariCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Kiran J BiddingerCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Sean J JurgensCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Joel T RämöCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Liam GazianoCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Alice ZhengCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Saketh P ChallaCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Dolphurs HayesDivision of Cardiology, Department of Medicine, Emory University School of Medicine, Atlanta, Georgia.
Carlos A GongoraCardiology Division, Montefiore Healthcare Network/Albert Einstein College of Medicine, Bronx, New York.
Seung Hoan ChoiCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Kyong-Mi ChangCorporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania.
Philip S TsaoPalo Alto Veterans Institute for Research, Palo Alto Health Care System, Palo Alto, California.
Zoltan AranyCardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Paaladinesh ThavendiranathanDepartment of Medicine, Division of Cardiology, Ted Rogers Program in Cardiotoxicity Prevention, Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada.
Jennifer E HuffmanPalo Alto Veterans Institute for Research, Palo Alto Health Care System, Palo Alto, California.
Akl C FahedCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Amy A SarmaCardiology Division, Department of Medicine, Massachusetts General Hospital, Boston.
Tomas G NeilanCardiology Division, Department of Medicine, Massachusetts General Hospital, Boston.
Amit V KheraDivision of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Patrick T EllinorCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Krishna G AragamCardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Importance: Rare monogenic variants linked to nonischemic dilated cardiomyopathy (DCM) are enriched among individuals with secondary cardiomyopathies, such as peripartum (PPCM), alcohol-induced (ACM), and cancer therapy-related (CCM) cardiomyopathies. However, it remains unclear whether a polygenic predisposition to DCM also contributes to these conditions. Objective: To assess the association of a DCM polygenic score with PPCM, ACM, and CCM, and to evaluate the contributions of monogenic and polygenic susceptibilities to these secondary cardiomyopathies. Design, Setting, and Participants: This was a retrospective genetic association analysis of data from the Mass General Brigham (MGB) Biobank (n = 42 137, 2008-2025), with replication in the UK Biobank (n = 295 160, 2005-2010), FinnGen (n = 417 950, 2017-2025), and the Veterans Affairs Million Veteran Program (n = 516 066, 2011-2025). In MGB Biobank, medical records were reviewed to ascertain secondary cardiomyopathy cases and antecedent clinical risk factors. Exposures: DCM polygenic risk score and DCM monogenic variants. Main Outcomes and Measures: The primary outcomes were the association of the DCM polygenic risk score with PPCM, ACM, and CCM and the prevalence of monogenic variants and a high polygenic score among individuals with cardiomyopathy. Results: The mean (SD) age in the MGB Biobank was 55.7 (17.0) years at enrollment, and 24 551 (58.3%) were female. Across the 4 study cohorts, 3414 individuals with secondary cardiomyopathy were identified, including 70 with PPCM, 2281 with ACM, and 1063 with CCM. The DCM polygenic score was associated with PPCM (odds ratio [OR], 1.82 per SD; 95% CI, 1.43-2.30), ACM (OR, 1.56; 95% CI,1.34-1.82), and CCM (OR, 1.64; 95% CI,1.24-2.15) (all with P < .001). Monogenic variants were enriched but present in 7 of 113 individuals with medical record-reviewed cardiomyopathy in MGB, while 66 had a high polygenic score, which conferred an approximately 3-fold increased odds of cardiomyopathy. Most individuals with cardiomyopathy lacked antecedent clinical risk factors. Conclusions and Relevance: In this cohort study, individuals with PPCM, ACM, and CCM were enriched for monogenic DCM variants and a high DCM polygenic score, suggesting a shared genetic susceptibility influenced by distinct environmental precipitants. These findings support a shared genetic architecture between secondary cardiomyopathies and DCM, although additional work with larger numbers of individuals with cardiomyopathy is needed to confirm these findings.

Indexed as

CardiomyopathiesCardiomyopathy, DilatedGenetic Predisposition to DiseaseMultifactorial InheritanceNeoplasmsPregnancy Complications, CardiovascularPuerperal DisordersAdultFemaleHumansMaleMiddle AgedPeripartum PeriodPregnancyRetrospective StudiesRisk Factors

Identifiers

PMID41032333
PMCPMC12489798

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.