Evidence map›Paper›PMID 38927500›Full record

ArticleBiomedicines2024

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience.

Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato and 10 more

Abstract read
In one paragraph

Article in Biomedicines, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
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  6. Review
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

20 authors.

Cinzia ForleoCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0002-9452-4037
Maria Cristina CarellaCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0002-5094-2237
Paolo BasileCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0002-2327-7585
Eugenio CarulliCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0003-1725-0279
Michele Luca DadamoCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Francesca AmatiCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0009-0005-7101-7701
Francesco LoizziCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0002-6556-5227
Sandro SorrentinoCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Ilaria DentamaroCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Marco Maria DicoratoCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0009-0008-4865-2522
Stefano RicciCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Rosanna BagnuloMedical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Matteo IacovielloMedical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0003-4253-4361
Vincenzo Ezio SantobuonoCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0002-8746-729X
Carlo CaiatiCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0002-7447-575X
Martino PepeCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0002-9235-1419
Jean-Francois DesaphyPharmacology Unit, Department of Precision and Regenerative Medicine and Ionian Area, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0001-8816-9369
Marco Matteo CicconeCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.
Nicoletta RestaMedical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0001-8640-5532
Andrea Igoren GuaricciCardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari "Aldo Moro", University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy.ORCID 0000-0001-7133-4401

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ventricular arrhythmia (MVA) of ≥10%. The risk prediction score for MVA includes non-missense LMNA mutations, despite their role as an established risk factor for sudden cardiac death (SCD) has been questioned in several studies. The purpose of this study is to investigate cardiac features and find gene-phenotype correlations that would contribute to the evidence on the prognostic implications of non-missense vs. missense mutations in a cohort of LMNA mutant patients. An observational, prospective study was conducted in which 54 patients positive for a Lamin A/C mutation were enrolled, and 20 probands (37%) were included. The median age at first clinical manifestation was 41 (IQR 19) years. The median follow-up was 8 years (IQR 8). The type of

Indexed as

arrhythmic risk stratificationgene–phenotype correlationimplantable cardioverter defibrillatorLMNA-related cardiomyopathynon-missense mutation

Identifiers

PMID38927500
PMCPMC11201013

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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.