Research & Literature

Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy.

Kumar S, Androulakis AF, Sellal JM, et al.

Circulation. Arrhythmia and electrophysiology 2016; (9(8)).

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features.

Maggi L, Carboni N, Bernasconi P

Cells 2016; (5(3)).

Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.

Kumar S, Baldinger SH, Gandjbakhch E, et al.

Journal of the American College of Cardiology 2016; (68(21)):2299-2307 doi:10.1016/j.jacc.2016.08.058.

Holt-Oram Syndrome: A Rare Variant.

Shankar B, Bhutia E, Kumar D, et al.

Iranian journal of medical sciences 2017; (42(4)):416-419.

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.

Hasselberg NE, Haland TF, Saberniak J, et al.

European heart journal 2018; (39(10)):853-860 doi:10.1093/eurheartj/ehx596.

Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

Nishiuchi S, Makiyama T, Aiba T, et al.

Circulation. Cardiovascular genetics 2017; (10(6)) doi:10.1161/CIRCGENETICS.116.001603.

Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.

Yin Y, Ji J, Borné Y, et al.

Scientific reports 2018; (8(1)):8469 doi:10.1038/s41598-018-26727-4.

Depression and Anxiety in Heart Failure: A Review.

Celano CM, Villegas AC, Albanese AM, et al.

Harvard review of psychiatry 2018; (26(4)):175-184 doi:10.1097/HRP.0000000000000162.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Vanlerberghe C, Jourdain AS, Ghoumid J, et al.

European journal of human genetics : EJHG 2019; (27(3)):360-368 doi:10.1038/s41431-018-0303-3.

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.

Peretto G, Di Resta C, Perversi J, et al.

Annals of internal medicine 2019; (171(7)):458-463 doi:10.7326/M18-2768.

Lamin A/C Cardiomyopathy: Implications for Treatment.

Chen SN, Sbaizero O, Taylor MRG, Mestroni L

Current cardiology reports 2019; (21(12)):160 doi:10.1007/s11886-019-1224-7.

Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.

Barriales-Villa R, Ochoa JP, Larrañaga-Moreira JM, et al.

Revista espanola de cardiologia (English ed.) 2021; (74(3)):216-224 doi:10.1016/j.rec.2020.03.026.

Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study.

Peretto G, Barison A, Forleo C, et al.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020; (22(12)):1864-1872 doi:10.1093/europace/euaa171.

[Care of patients with chronic heart failure: an interdisciplinary challenge].

Störk S, Angermann C, Bauersachs J, Frantz S

Deutsche medizinische Wochenschrift (1946) 2021; (146(5)):309-316 doi:10.1055/a-1235-0422.

Lamin A/C recruits ssDNA protective proteins RPA and RAD51 to stalled replication forks to maintain fork stability.

Graziano S, Coll-Bonfill N, Teodoro-Castro B, et al.

The Journal of biological chemistry 2021; (297(5)):101301 doi:10.1016/j.jbc.2021.101301.

Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants.

Ferradini V, Cosma J, Romeo F, et al.

Journal of clinical medicine 2021; (10(21)) doi:10.3390/jcm10215075.

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).

Zhang Y, Lin Y, Zhang Y, et al.

Heart rhythm 2022; (19(3)):466-475 doi:10.1016/j.hrthm.2021.11.022.

Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy.

Tremblay-Gravel M, Ichimura K, Picard K, et al.

Circulation. Genomic and precision medicine 2023; (16(1)):e003480 doi:10.1161/CIRCGEN.121.003480.

TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.

Farnè M, Fortunato F, Neri M, et al.

European journal of medical genetics 2023; (66(6)):104749 doi:10.1016/j.ejmg.2023.104749.

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.

Cesar S, Campuzano O, Cruzalegui J, et al.

Frontiers in cell and developmental biology 2023; (11()):1142937 doi:10.3389/fcell.2023.1142937.

OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing.

Hornak M, Bezdekova K, Kubicek D, et al.

Journal of assisted reproduction and genetics 2024; (41(1)):185-192 doi:10.1007/s10815-023-02998-3.

The role of detailed medical history for the early diagnosis of familial bradycardia in a patient with associated atrial fibrillation: case report.

Ciacaru A, Tusa A, Magdas A, Podoleanu C

European heart journal. Case reports 2024; (8(3)):ytae116 doi:10.1093/ehjcr/ytae116.

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

Forleo C, Carella MC, Basile P, et al.

Biomedicines 2024; (12(6)) doi:10.3390/biomedicines12061293.

Lamin A/C facilitates DNA damage response by modulating ATM signaling and homologous recombination pathways.

Kim SJ, Park SH, Myung K, Lee KY

Animal cells and systems 2024; (28(1)):401-416 doi:10.1080/19768354.2024.2393820.

Contemporary Insights into LMNA Cardiomyopathy.

Balakrishnan ID, Lakdawala NK

Current cardiology reports 2025; (27(1)):40.

Variant-Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA-Related Cardiomyopathy.

Castrichini M, Garmany R, Siontis KC, et al.

Journal of the American Heart Association 2025; (14(15)):e041230 doi:10.1161/JAHA.124.041230.

Outcomes of Ventricular Tachycardia Ablation in Cardiac Laminopathy: An Updated Systematic Review and Single-Arm Meta-Analysis.

Castrichini M, Ferreira Felix I, Karlinski Vizentin V, et al.

Journal of cardiovascular electrophysiology 2026; (37(2)):268-274 doi:10.1111/jce.70193.

Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures-Case Report.

Oreščanin L, Biloglav Z, Škrlec I

Pathophysiology : the official journal of the International Society for Pathophysiology 2026; (33(1)) doi:10.3390/pathophysiology33010023.

Preimplantation Genetic Testing for Families at Risk of Haemophilia: Ten-Year Single-Centre Experience.

Mortarino M, Garagiola I, Nicotra V, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2026; (32(5)):1239-1246 doi:10.1111/hae.70358.