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LETTER TO THE EDITOR
Pathogenic LMNA variant identified in a family with dilated cardiomyopathy and arrhythmias highlights cascade screening importance
1
Department of Cardiology, The Affiliated Hospital of Southwest Medical University, Luzhou, China
2
Collaborative Innovation Centre for Prevention and Treatment of Cardiovascular Disease of Sichuan Province, Southwest Medical University, Luzhou, China
These authors had equal contribution to this work
Submission date: 2026-01-24
Final revision date: 2026-02-16
Acceptance date: 2026-02-27
Online publication date: 2026-02-28
Corresponding author
Jiafu Li
Department of Cardiology The Affiliated Hospital of Southwest Medical University Collaborative Innovation Centre for Prevention and Treatment of Cardiovascular Disease of Sichuan Province Southwest Medical University Luzhou, China
Department of Cardiology The Affiliated Hospital of Southwest Medical University Collaborative Innovation Centre for Prevention and Treatment of Cardiovascular Disease of Sichuan Province Southwest Medical University Luzhou, China
TOPICS
REFERENCES (12)
1.
Morales A, Kinnamon DD, Jordan E, et al. Variant interpretation for dilated cardiomyopathy: refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. Circ Genom Precis Med 2020; 13: e002480.
2.
Kato K, Ohno S, Sonoda K, et al. LMNA missense mutation causes nonsense-mediated mRNA decay and severe dilated cardiomyopathy. Circ Genom Precis Med 2020; 13: 435-43.
3.
Gruenbaum Y, Foisner R. Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation. Ann Rev Biochem 2015; 84: 131-64.
4.
Kumar S, Baldinger SH, Gandjbakhch E, et al. Long-term arrhythmic and nonarrhythmic outcomes of lamin A/C mutation carriers. J Am Coll Cardiol 2016; 68: 2299-307.
5.
Jansweijer JA, Nieuwhof K, Russo F, et al. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. Eur J Heart Fail 2017; 19: 512-21.
6.
Mahrholdt H, Wagner A, Judd RM, Sechtem U, Kim RJ. Delayed enhancement cardiovascular magnetic resonance assessment of non-ischaemic cardiomyopathies. Eur Heart J 2005; 26: 1461-74.
7.
van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, et al. Severe myocardial fibrosis caused by a deletion of the 5’ end of the lamin A/C gene. J Am Coll Cardiol 2007; 49: 2430-9.
8.
Bhaskaran A, Ben Yaou R, Helms AS, et al. Location of LMNA variants and clinical outcomes in cardiomyopathy. JAMA Cardiol 2025; 10: 896-903.
9.
Orphanou N, Papatheodorou E, Anastasakis A. Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments. Heart Fail Rev 2022; 27: 1173-91.
10.
Ferradini V, Cosma J, Romeo F, et al. Clinical features of LMNA-related cardiomyopathy in 18 patients and characterization of two novel variants. J Clin Med 2021; 10: 5075.
11.
Paldino A, Dal Ferro M, Stolfo D, et al. Prognostic prediction of genotype vs phenotype in genetic cardiomyopathies. J Am Coll Cardiol 2022; 80: 1981-94.
12.
McCutcheon SR, Rohm D, Iglesias N, Gersbach CA. Epigenome editing technologies for discovery and medicine. Nat Biotechnol 2024; 42: 1199-217.
| eISSN: | 1896-9151 |
| ISSN: | 1734-1922 |
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