Evidence map›Paper›PMID 41256131›Full record

ArticlemedRxiv : the preprint server for health sciences2025

High Burden of Ventricular Arrhythmias and Cardiac Conduction Disease in Pediatric Patients with Pathogenic 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 5 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 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.ORCID 0000-0002-3388-4119
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.
Richard T CarrickDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-5589-1216
Emily JosephWelch Medical Library, Johns Hopkins School of Medicine, Baltimore, MD, USA.ORCID 0009-0003-1878-5694
Doris G LeungKennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-2558-7798
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
Caridad M De La UzDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Andreas S BarthDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-5275-8049

Funding

PATHOPHYSIOLOGY OF MYOCARDIAL DISEASEST32HL007227 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI Chulan Kwon, WENDY S POST · 1985 to 2026
$21.2M
NHLBI NIH HHS L30 HL165535NHLBI NIH HHS T32 HL007227
6 · The paper itself

Abstract

Background: Pathogenic variants in the desmin gene ( Methods: We conducted a systematic review and individual patient data meta-analysis of Medline (PubMed) and Embase, including patients with pathogenic or likely pathogenic Results: Fifty-one pediatric patients were included (58.8% male; 64.7% probands; median age at first evaluation: 14.0 years [IQR 11.0-17.0], median follow-up: 5.0 years [1.0-11.5]). Among probands, 60.6% (20/33) had a heterozygous variant (20 non-frameshift/non-truncating and 2 frameshift/truncating), while the remaining 11 (33.3%) harbored biallelic genotypes (homozygous (n=8), compound heterozygous (n=3)). At presentation, 54.9% (28/51) patients had cardiomyopathy and 54.9% had skeletal myopathy. CCD occurred in 39.2% (median age: 19.0 years), sustained VA in 21.6% (median age: 18.0 years), and HF events in 37.3% (median age: 19.0 years). In total, 64.7% experienced MACE (median age: 17.0 years [13.0-19.0]), and 19.6% died during follow-up (median age: 23.5 years [14.8-28.0]). Rates of cardiomyopathy diagnosis, CCD, VA and HF events as well as composite MACE were similar between those with a heterozygous and biallelic variants (p>0.05 for all), but the latter group had nearly twice higher rate of skeletal myopathy (43.6% vs 83.3%, p=0.016). Conclusion: Pediatric

Indexed as

arrhythmogenic cardiomyopathycardiac arrhythmiadilated cardiomyopathygenetic testingprecision medicinesudden cardiac death

Identifiers

PMID41256131
PMCPMC12622146

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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.