دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Effect of Occurrence of Lamin A/C ( LMNA ) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
المؤلفون: Pessente GD; Laboratory of Genetics and Molecular Cardiology (LGMC) - Heart Institute (Institute Coração, University of São Paulo Medical School, São Paulo, Brazil.; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Sacilotto L; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Calil ZO; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Olivetti NQS; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Wulkan F; Laboratory of Genetics and Molecular Cardiology (LGMC) - Heart Institute (Institute Coração, University of São Paulo Medical School, São Paulo, Brazil., de Oliveira TGM; Laboratory of Genetics and Molecular Cardiology (LGMC) - Heart Institute (Institute Coração, University of São Paulo Medical School, São Paulo, Brazil., Pedrosa AAA; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Wu TC; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Hachul DT; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Scanavacca MI; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Krieger JE; Laboratory of Genetics and Molecular Cardiology (LGMC) - Heart Institute (Institute Coração, University of São Paulo Medical School, São Paulo, Brazil., Darrieux FCDC; Arrhythmia Unit - Heart Institute (Institute Coração), University of São Paulo Medical School, São Paulo, Brazil., Pereira ADC; Laboratory of Genetics and Molecular Cardiology (LGMC) - Heart Institute (Institute Coração, University of São Paulo Medical School, São Paulo, Brazil.
المصدر: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2022 Apr 05; Vol. 9, pp. 823717. Date of Electronic Publication: 2022 Apr 05 (Print Publication: 2022).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653388 Publication Model: eCollection Cited Medium: Print ISSN: 2297-055X (Print) Linking ISSN: 2297055X NLM ISO Abbreviation: Front Cardiovasc Med Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Lausanne : Frontiers Media S.A., [2014]-
مستخلص: Objective: Mutations 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.
Methods: One-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.
Results: Three 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).
Conclusion: Although a rare occurrence, our findings emphasize the possibility of an initial presentation of apparently "lone AF" in LMNA gene variant carriers.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2022 Pessente, Sacilotto, Calil, Olivetti, Wulkan, Oliveira, Pedrosa, Wu, Hachul, Scanavacca, Krieger, Darrieux and Pereira.)
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معلومات مُعتمدة: MC_PC_17228 United Kingdom MRC_ Medical Research Council; MC_QA137853 United Kingdom MRC_ Medical Research Council
فهرسة مساهمة: Keywords: LMNA; atrial fibrillation; genetics; laminopathy; lone AF
تواريخ الأحداث: Date Created: 20220422 Latest Revision: 20230802
رمز التحديث: 20230802
مُعرف محوري في PubMed: PMC9016147
DOI: 10.3389/fcvm.2022.823717
PMID: 35449878
قاعدة البيانات: MEDLINE
الوصف
تدمد:2297-055X
DOI:10.3389/fcvm.2022.823717