Evidence map›Paper›PMID 37929589›Full record

SynthesisCirculation2024

Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.

Constantin-Cristian Topriceanu, Alexandre C Pereira, James C Moon, Gabriella Captur, Carolyn Y Ho

Open access · hybridAbstract readSystematic ReviewMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Circulation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 1 pooled it
15.8field-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

51 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.

  1. Pooled it
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  5. Review
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  7. Thick filament molecular interfaces play a critical role in the pathogenesis of hypertrophic cardiomyopathy.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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  9. Beta-Adrenergic Stimulation andbioRxiv : the preprint server for biology · 2026
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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

5 authors at 1 institution in 1 country.

Constantin-Cristian TopriceanuDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (C.-C.T., A.C.P., C.Y.H.). UCL Institute of Cardiovascular Science (C.-C.T., J.C.M., G.C.) and UCL MRC Unit for Lifelong Health and Ageing (G.C.), University College London, UK. Cardiac MRI Unit, Barts Heart Centre, West Smithfield, London, UK (C.-C.T., J.C.M.). The Royal Free Hospital, Centre for Inherited Heart Muscle Conditions, Cardiology Department, Hampstead, London, UK (G.C.).ORCID 0000-0001-5826-9617
Alexandre C PereiraDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (C.-C.T., A.C.P., C.Y.H.). UCL Institute of Cardiovascular Science (C.-C.T., J.C.M., G.C.) and UCL MRC Unit for Lifelong Health and Ageing (G.C.), University College London, UK. Cardiac MRI Unit, Barts Heart Centre, West Smithfield, London, UK (C.-C.T., J.C.M.). The Royal Free Hospital, Centre for Inherited Heart Muscle Conditions, Cardiology Department, Hampstead, London, UK (G.C.).ORCID 0000-0002-7782-5540
James C MoonDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (C.-C.T., A.C.P., C.Y.H.). UCL Institute of Cardiovascular Science (C.-C.T., J.C.M., G.C.) and UCL MRC Unit for Lifelong Health and Ageing (G.C.), University College London, UK. Cardiac MRI Unit, Barts Heart Centre, West Smithfield, London, UK (C.-C.T., J.C.M.). The Royal Free Hospital, Centre for Inherited Heart Muscle Conditions, Cardiology Department, Hampstead, London, UK (G.C.).
Gabriella CapturDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (C.-C.T., A.C.P., C.Y.H.). UCL Institute of Cardiovascular Science (C.-C.T., J.C.M., G.C.) and UCL MRC Unit for Lifelong Health and Ageing (G.C.), University College London, UK. Cardiac MRI Unit, Barts Heart Centre, West Smithfield, London, UK (C.-C.T., J.C.M.). The Royal Free Hospital, Centre for Inherited Heart Muscle Conditions, Cardiology Department, Hampstead, London, UK (G.C.).ORCID 0000-0002-5662-0642
Carolyn Y HoDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (C.-C.T., A.C.P., C.Y.H.). UCL Institute of Cardiovascular Science (C.-C.T., J.C.M., G.C.) and UCL MRC Unit for Lifelong Health and Ageing (G.C.), University College London, UK. Cardiac MRI Unit, Barts Heart Centre, West Smithfield, London, UK (C.-C.T., J.C.M.). The Royal Free Hospital, Centre for Inherited Heart Muscle Conditions, Cardiology Department, Hampstead, London, UK (G.C.).ORCID 0000-0002-7334-7924
MRC Unit for Lifelong Health and Ageing · GB

Funding

HCMR Novel Markers of Prognosis in Hypertrophic CardiomyopathyU01HL117006 · NHLBI · UNIVERSITY OF VIRGINIA · PI KRAMER, CHRISTOPHER M., NEUBAUER, STEFAN · 2013 to 2017
$14.5M
Using Genetics For Early Phenotyping & Prevention of Hypertrophic CardiomyopathyP50HL112349 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HO, CAROLYN Y, SEIDMAN, CHRISTINE E · 2012 to 2017
$11.2M
Hypertrophic Cardiomyopathy: Understanding the Heterogeneity of Disease Expression and OutcomesR01HL155568 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HO, CAROLYN Y · 2021 to 2024
$5.9M
NHLBI NIH HHS P50 HL112349NHLBI NIH HHS R01 HL155568NHLBI NIH HHS U01 HL117006
6 · The paper itself

Abstract

backgroundHypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants (P/LP) in genes encoding sarcomere proteins. Not all subclinical variant carriers will manifest clinically overt disease because penetrance (proportion of sarcomere or sarcomere-related P/LP variant carriers who develop disease) is variable, age dependent, and not reliably predicted.

methodsA systematic search of the literature was performed. We used random-effects generalized linear mixed model meta-analyses to contrast the cross-sectional prevalence and penetrance of sarcomere or sarcomere-related genes in 2 different contexts: clinically-based studies on patients and families with HCM versus population or community-based studies. Longitudinal family/clinical studies were additionally analyzed to investigate the rate of phenotypic conversion from subclinical to overt HCM during follow-up.

resultsIn total, 455 full-text manuscripts and articles were assessed. In family/clinical studies, the prevalence of sarcomere variants in patients diagnosed with HCM was 34%. The penetrance across all genes in nonproband relatives carrying P/LP variants identified during cascade screening was 57% (95% CI, 52%-63%), and the mean age at HCM diagnosis was 38 years (95% CI, 36%-40%). Penetrance varied from ≈32% for

conclusionsThe penetrance of P/LP variants is highly variable and influenced by currently undefined and context-dependent genetic and environmental factors. Additional longitudinal studies are needed to improve our understanding of true lifetime penetrance in families and in the community and to identify drivers of the transition from subclinical to overt HCM.

Indexed as

Cardiomyopathy, HypertrophicAdultCross-Sectional StudiesHumansMutationPedigreePenetranceTroponin TTroponin Tage of onsetcardiomyopathy, hypertrophicpenetrance

Identifiers

PMID37929589
PMCPMC10775968
OpenAlexW4388420800

What OpenQuestion holds

Textmetadata
LicenceTDM
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.