ArticlemedRxiv : the preprint server for health sciences2024
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (
Babken Asatryan, Marina Rieder, Brittney Murray, Steven A Muller, Crystal Tichnell, Alessio Gasperetti, Richard T Carrick, Emily Joseph, Doris G Leung, Anneline S J M Te Riele and 4 more
Abstract readPreprint
In one paragraphArticle in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
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0citing papers in PubMed
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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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
14 authors.
Babken AsatryanDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-0050-5717 Marina RiederDepartment of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Brittney MurrayDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-7870-8584 Steven A MullerDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-2674-8709 Crystal TichnellDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Alessio GasperettiDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0003-3432-070X Richard T CarrickDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Emily JosephWelch Medical Library, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Doris G LeungKennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Anneline S J M Te RieleDivision of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID 0000-0002-4694-4790 Stefan L ZimmermanThe Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-9422-6742 Hugh CalkinsDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-9262-9433 Cynthia A JamesDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-8040-4600 Andreas S BarthDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-5275-8049 Funding
QAQC Johns Hopkins Institute for Clinical and Translational ResearchUL1TR003098 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2019 to 2023
$57.7MPATHOPHYSIOLOGY OF MYOCARDIAL DISEASEST32HL007227 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI Chulan Kwon, WENDY S POST · 1985 to 2026
$21.2MNCATS NIH HHS UL1 TR003098NHLBI NIH HHS L30 HL165535NHLBI NIH HHS T32 HL007227
6 · The paper itselfAbstract
Background: Pathogenic/likely pathogenic (P/LP) desmin ( Objectives: We aimed to describe the natural history, phenotype spectrum, familial penetrance and outcomes in patients with P/LP Methods: We searched Medline (PubMed) and Embase for studies that evaluated cardiac phenotypes in patients with P/LP Results: Out of 4,212 screened publications, 71 met the inclusion criteria. A total of 230 patients were included (52.6% male, 52.2% probands, median age: 31 years [22.0; 42.8] at first evaluation, median follow-up: 3 years [0; 11.0]). Overall, 124 (53.9%) patients were diagnosed with cardiomyopathy, predominantly dilated cardiomyopathy (14.8%), followed by restrictive cardiomyopathy (13.5%), whereas other forms were less common: arrhythmogenic cardiomyopathy (7.0%), hypertrophic cardiomyopathy (6.1%), arrhythmogenic right ventricular cardiomyopathy (5.2%), and other forms (7.4%). Overall, 132 (57.4%) patients developed MACE, with 96 [41.7%] having CCD, 36 [15.7%] sustained VA, and 43 [18.7%] HF events. Familial penetrance of cardiac disease was 63.6% among relatives with P/LP Conclusions:
Indexed as
cardiac arrhythmiacardiomyopathygeneticsgenomicspenetranceprecision medicineprognosisrisk stratificationsudden cardiac death
Identifiers
PMID39252922
PMCPMC11383507
What OpenQuestion holds
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