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De Oliveira, Theo Gremen MimaryAuthor

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March 12, 2025
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Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights

Publicated to: Front Cardiovasc Med. 9 823717- - 2022-04-05 9(), DOI: 10.3389/fcvm.2022.823717

Authors:

Pessente, Gabrielle D'Arezzo; Sacilotto, Luciana; Calil, Zaine Oliveira; Olivetti, Natalia Quintella Sangiorgi; Wulkan, Fanny; de Oliveira, Theo Gremen Mimary; Pedrosa, Anisio Alexandre Andrade; Wu, Tan Chen; Hachul, Denise Tessariol; Scanavacca, Mauricio Ibrahim; Krieger, Jose Eduardo; Darrieux, Francisco Carlos da Costa; Pereira, Alexandre da Costa
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Affiliations

Univ Sao Paulo, Heart Inst, Inst Coracao, Arrhythmia Unit,Med Sch, Sao Paulo, Brazil - Author
Univ Sao Paulo, Lab Genet Mol Cardiol LGMC, Heart Inst, Med Sch,Inst Coracao, Sao Paulo, Brazil - Author

Abstract

ObjectiveMutations in the Lamin A/C (LMNA) gene are commonly associated with cardiac manifestations, such as dilated cardiomyopathy (DCM) and conduction system disease. However, the overall spectrum and penetrance of rare LMNA variants are unknown. The present study described the presence of LMNA variants in patients with "lone atrial fibrillation (AF)" as their sole clinical presentation. MethodsOne-hundred and one consecutive patients with "lone AF" criteria were initially screened by genetic testing. Genetic variants were classified according to the American College of Genetic and Genomic criteria. All subjects were evaluated through clinical and familial history, ECG, 24-h Holter monitoring, echocardiogram, cardiac magnetic resonance, treatment response, and the present relatives of LMNA carriers. In addition, whole-exome data from 49,960 UK Biobank (UKB) participants were analyzed to describe the overall penetrance of rare LMNA missense and loss of function (LOF) variants. ResultsThree missense variants in LMNA were identified in probands with AF as their first and unique clinical manifestation. Other five first-degree relatives, after the screening, also presented LMNA gene variants. Among 49,960 analyzed UKB participants, 331 carried rare LMNA missense or LOF variant. Participants who carried a rare LMNA variant were significantly associated with higher odds of arrhythmic events and of an abnormal ECG in the per-protocol ECG exam (p = 0.03 and p = 0.05, respectively). ConclusionAlthough a rare occurrence, our findings emphasize the possibility of an initial presentation of apparently "lone AF" in LMNA gene variant carriers.
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Keywords

AssociationAtrial fibrillationAtrial-fibrillationCardiomyopathyCarrierGeneticGeneticsIdentificationLaminopathyLmnaLone afMolecular-geneticsMuscular-dystrophyMutationRiskVentricular-arrhythmias

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Front Cardiovasc Med due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2022, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Cardiology and Cardiovascular Medicine.

From a relative perspective, and based on the normalized impact indicator calculated from World Citations provided by WoS (ESI, Clarivate), it yields a value for the citation normalization relative to the expected citation rate of: 1.32. This indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: ESI Nov 13, 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2026-04-05, the following number of citations:

  • WoS: 11
  • Europe PMC: 7
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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-05:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 23.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 23 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 11.
  • The number of mentions on the social network X (formerly Twitter): 2 (Altmetric).
  • The number of mentions in news outlets: 1 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
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Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Brazil.

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Awards linked to the item

Funding The authors declare that they have received Grants (426088/2016-6) for support of this study from the National Council for Scientific and Technological Development (CNPq).
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