Research & Literature

Altering lamina assembly reveals lamina-dependent and -independent functions for A-type lamins.

Zwerger M, Roschitzki-Voser H, Zbinden R, et al.

Journal of cell science 2015; (128(19)):3607-20 doi:10.1242/jcs.171843.

Nuclear envelope proteins modulate proliferation of vascular smooth muscle cells during cyclic stretch application.

Qi YX, Yao QP, Huang K, et al.

Proceedings of the National Academy of Sciences of the United States of America 2016; (113(19)):5293-8 doi:10.1073/pnas.1604569113.

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)).

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.

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.

Barateau A, Vadrot N, Vicart P, et al.

PloS one 2017; (12(1)):e0169189 doi:10.1371/journal.pone.0169189.

[Stroke prophylaxis in atrial fibrillation : When, how and for whom?]

Maurer T, Sohns C

Herz 2017; (42(4)):373-379 doi:10.1007/s00059-017-4568-z.

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

Hoorntje ET, Bollen IA, Barge-Schaapveld DQ, et al.

Circulation. Cardiovascular genetics 2017; (10(4)) doi:10.1161/CIRCGENETICS.116.001631.

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 aspects of Emery-Dreifuss muscular dystrophy.

Madej-Pilarczyk A

Nucleus (Austin, Tex.) 2018; (9(1)):268-274 doi:10.1080/19491034.2018.1462635.

The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.

Al-Saaidi RA, Rasmussen TB, Birkler RID, et al.

European journal of heart failure 2018; (20(10)):1404-1412 doi:10.1002/ejhf.1241.

A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family.

Glöcklhofer CR, Steinfurt J, Franke G, 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 2018; (20(12)):2003-2013 doi:10.1093/europace/euy127.

Sustained Cardiac Recovery Hinges on Timing and Natural History of Underlying Condition.

Jaiswal A, Le Jemtel TH, Samson R, Mancini D

The American journal of the medical sciences 2018; (356(1)):47-55 doi:10.1016/j.amjms.2018.02.008.

Heart Failure and Stroke.

Schumacher K, Kornej J, Shantsila E, Lip GYH

Current heart failure reports 2018; (15(5)):287-296 doi:10.1007/s11897-018-0405-9.

Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry.

Nakajima K, Aiba T, Makiyama T, et al.

Circulation journal : official journal of the Japanese Circulation Society 2018; (82(11)):2707-2714 doi:10.1253/circj.CJ-18-0339.

Complex effects of laminopathy mutations on nuclear structure and function.

Ho R, Hegele RA

Clinical genetics 2019; (95(2)):199-209 doi:10.1111/cge.13455.

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G, Arbustini E, Syrris P, et al.

Open heart 2018; (5(2)):e000915 doi:10.1136/openhrt-2018-000915.

Characteristics of ventricular tachycardia and long-term treatment outcome in patients with dilated cardiomyopathy complicated by lamin A/C gene mutations.

Hasebe Y, Fukuda K, Nakano M, et al.

Journal of cardiology 2019; (74(5)):451-459 doi:10.1016/j.jjcc.2019.03.019.

Myocardial Fibrosis as a Pathway of Prediction of Ventricular Arrhythmias and Sudden Cardiac Death in Patients With Nonischemic Dilated Cardiomyopathy.

Centurión OA, Alderete JF, Torales JM, et al.

Critical pathways in cardiology 2019; (18(2)):89-97 doi:10.1097/HPC.0000000000000171.

The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy.

Salvarani N, Crasto S, Miragoli M, et al.

Nature communications 2019; (10(1)):2267 doi:10.1038/s41467-019-09929-w.

Management of monomorphic ventricular tachycardia electrical storm in structural heart disease.

AlKalbani A, AlRawahi N

Journal of the Saudi Heart Association 2019; (31(3)):135-144 doi:10.1016/j.jsha.2019.05.001.

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.

D'Ambrosio P, Petillo R, Torella A, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2019; (38(2)):33-36.

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.

Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy.

Gigli M, Merlo M, Graw SL, et al.

Journal of the American College of Cardiology 2019; (74(11)):1480-1490 doi:10.1016/j.jacc.2019.06.072.

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.

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.

Earle AJ, Kirby TJ, Fedorchak GR, et al.

Nature materials 2020; (19(4)):464-473 doi:10.1038/s41563-019-0563-5.

Early experience of Sacubitril-Valsartan in heart failure with reduced ejection fraction in real-world clinical setting.

Nordberg Backelin C, Fu M, Ljungman C

ESC heart failure 2020; (7(3)):1049-1055 doi:10.1002/ehf2.12644.

BET bromodomain inhibition attenuates cardiac phenotype in myocyte-specific lamin A/C-deficient mice.

Auguste G, Rouhi L, Matkovich SJ, et al.

The Journal of clinical investigation 2020; (130(9)):4740-4758.

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.

2020 Heart Failure Society of South Africa perspective on the 2016 European Society of Cardiology Chronic Heart Failure Guidelines.

Hitzeroth J, Mpe M, Klug E, et al.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2020; (110(8b)):13057.

The subcutaneous ICD for prevention of sudden cardiac death: Current evidence and future directions.

Steffel J

Pacing and clinical electrophysiology : PACE 2020; (43(12)):1421-1427 doi:10.1111/pace.14066.

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.

Hypertrophic cardiomyopathy considerations for the managed care pharmacist.

Taddei-Allen P

The American journal of managed care 2021; (27(6 Suppl)):S118-S125 doi:10.37765/ajmc.2021.88629.

Timing of pacemaker and ICD implantation in LMNA mutation carriers.

Ollila LH, Nikus K, Parikka H, et al.

Open heart 2021; (8(1)) doi:10.1136/openhrt-2021-001622.

Spatial distribution of lamin A/C determines nuclear stiffness and stress-mediated deformation.

Srivastava LK, Ju Z, Ghagre A, Ehrlicher AJ

Journal of cell science 2021; (134(10)) doi:10.1242/jcs.248559.

Management of heart failure with concomitant complete atrioventricular block caused by a novel missense LMNA mutation.

Hayıroğlu Mİ, Şekerci SS, Çinier G, et al.

Journal of electrocardiology 2021; (69()):27-29 doi:10.1016/j.jelectrocard.2021.09.004.

Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report.

Santobuono VE, Guaricci AI, Carulli E, et al.

World journal of clinical cases 2021; (9(25)):7472-7477 doi:10.12998/wjcc.v9.i25.7472.

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.

Lamin C is required to establish genome organization after mitosis.

Wong X, Hoskins VE, Melendez-Perez AJ, et al.

Genome biology 2021; (22(1)):305 doi:10.1186/s13059-021-02516-7.

Laminopathies: should Wenckebach be a cause for concern? A case report.

Sen G, Jackson T

European heart journal. Case reports 2021; (5(11)):ytab331 doi:10.1093/ehjcr/ytab331.

Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.

Bennett JS, Gordon DM, Majumdar U, et al.

Heart rhythm 2022; (19(4)):676-685 doi:10.1016/j.hrthm.2021.12.019.

The response to cardiac resynchronization therapy in LMNA cardiomyopathy.

Sidhu K, Castrini AI, Parikh V, et al.

European journal of heart failure 2022; (24(4)):685-693 doi:10.1002/ejhf.2463.

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

Pessente GD, Sacilotto L, Calil ZO, et al.

Frontiers in cardiovascular medicine 2022; (9()):823717 doi:10.3389/fcvm.2022.823717.

Clinical Profile, Arrhythmias, and Adverse Cardiac Outcomes in Emery-Dreifuss Muscular Dystrophies: A Systematic Review of the Literature.

Valenti AC, Albini A, Imberti JF, et al.

Biology 2022; (11(4)) doi:10.3390/biology11040530.

A case report of successful physiological pacing in a patient with lamin A/C cardiomyopathy.

Chandra Mohan N, Foley P, Chandrasekaran B

European heart journal. Case reports 2022; (6(8)):ytac324 doi:10.1093/ehjcr/ytac324.

Lamin A/C-dependent chromatin architecture safeguards naïve pluripotency to prevent aberrant cardiovascular cell fate and function.

Wang Y, Elsherbiny A, Kessler L, et al.

Nature communications 2022; (13(1)):6663 doi:10.1038/s41467-022-34366-7.

Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort study.

Rootwelt-Norberg C, Skjølsvik ET, Chivulescu M, 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 2023; (25(2)):634-642 doi:10.1093/europace/euac192.

[The new ESC guidelines on the management of ventricular tachyarrhythmias : Implications for daily practice].

Könemann H, Frommeyer G, Zeppenfeld K, Eckardt L

Herz 2023; (48(1)):3-14 doi:10.1007/s00059-022-05148-0.

Timing of cardioverter-defibrillator implantation in patients with cardiac laminopathies-External validation of the LMNA-risk ventricular tachyarrhythmia calculator.

Rootwelt-Norberg C, Christensen AH, Skjølsvik ET, et al.

Heart rhythm 2023; (20(3)):423-429 doi:10.1016/j.hrthm.2022.11.024.

Efficacy and Safety of ARRY-371797 in LMNA-Related Dilated Cardiomyopathy: A Phase 2 Study.

MacRae CA, Taylor MRG, Mestroni L, et al.

Circulation. Genomic and precision medicine 2023; (16(1)):e003730 doi:10.1161/CIRCGEN.122.003730.

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.

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.

Nuclear damage in LMNA mutant iPSC-derived cardiomyocytes is associated with impaired lamin localization to the nuclear envelope.

Wallace M, Zahr H, Perati S, et al.

Molecular biology of the cell 2023; mbcE21100527 doi:10.1091/mbc.E21-10-0527.

Upgrade of right ventricular pacing to cardiac resynchronization therapy in heart failure: a randomized trial.

Merkely B, Hatala R, Wranicz JK, et al.

European heart journal 2023; (44(40)):4259-4269 doi:10.1093/eurheartj/ehad591.

LMNA Cardiomyopathy: Important Considerations for the Heart Failure Clinician.

Rosario KF, Karra R, Amos K, et al.

Journal of cardiac failure 2023; (29(12)):1657-1666 doi:10.1016/j.cardfail.2023.08.016.

2023 HRS/APHRS/LAHRS guideline on cardiac physiologic pacing for the avoidance and mitigation of heart failure.

Chung MK, Patton KK, Lau CP, et al.

Journal of arrhythmia 2023; (39(5)):681-756 doi:10.1002/joa3.12872.

Mapping and Ablation of Ventricular Tachycardia in Inherited Left Ventricular Cardiomyopathies.

Zeppenfeld K, Kimura Y, Ebert M

JACC. Clinical electrophysiology 2024; (10(3)):585-603 doi:10.1016/j.jacep.2023.10.023.

Role of arrhythmic phenotype in prognostic stratification and management of dilated cardiomyopathy.

Setti M, Merlo M, Gigli M, et al.

European journal of heart failure 2024; (26(3)):581-589 doi:10.1002/ejhf.3168.

Nuclear shape is affected differentially by loss of lamin A, lamin C, or both lamin A and C.

Pho M, Berrada Y, Gunda A, Stephens AD

microPublication biology 2024; (2024()) doi:10.17912/micropub.biology.001103.

The role of early cardiac resynchronization therapy implantation in dilated cardiomyopathy patients with narrow QRS carrying lamin A/C mutation.

Blich M, Darawsha W, Eyal A, et al.

American journal of cardiovascular disease 2024; (14(1)):47-53.

Eliminating elevated p53 signaling fails to rescue skeletal muscle defects or extend survival in lamin A/C-deficient mice.

Kirby TJ, Zahr HC, Fong EHH, Lammerding J

Cell death discovery 2024; (10(1)):245 doi:10.1038/s41420-024-01998-1.

Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy.

Chmielewski P, Kowalik I, Truszkowska G, et al.

Journal of clinical medicine 2024; (13(11)) doi:10.3390/jcm13113164.

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.

Microtubule forces drive nuclear damage in LMNA cardiomyopathy.

Pavlov DA, Heffler J, Suay-Corredera C, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2024.02.10.579774.

REALM-DCM: A Phase 3, Multinational, Randomized, Placebo-Controlled Trial of ARRY-371797 in Patients With Symptomatic LMNA-Related Dilated Cardiomyopathy.

Garcia-Pavia P, Palomares JFR, Sinagra G, et al.

Circulation. Heart failure 2024; (17(7)):e011548 doi:10.1161/CIRCHEARTFAILURE.123.011548.

Nuclear envelope lamin-related dilated cardiomyopathy: a case series including histopathology.

O'Connor W, Arshia A, Prabakar D, et al.

European heart journal. Case reports 2024; (8(8)):ytae412 doi:10.1093/ehjcr/ytae412.

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors.

Miller EM, Brown E, Christian S, et al.

Journal of genetic counseling 2025; (34(3)):e1993 doi:10.1002/jgc4.1993.

Dilated Cardiomyopathy: A Genetic Journey from Past to Future.

Newman NA, Burke MA

International journal of molecular sciences 2024; (25(21)) doi:10.3390/ijms252111460.

Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy.

Zhuo W, Jiang Z, Xun M, et al.

International journal of cardiology 2025; (424()):133043 doi:10.1016/j.ijcard.2025.133043.

The Cardiovascular Magnetic Resonance Phenotype of Lamin Heart Disease.

Topriceanu CC, Al-Farih M, Joy G, et al.

JACC. Cardiovascular imaging 2025; (18(6)):644-660 doi:10.1016/j.jcmg.2025.01.004.

Location of LMNA Variants and Clinical Outcomes in Cardiomyopathy.

Bhaskaran A, Ben Yaou R, Helms AS, et al.

JAMA cardiology 2025; (10(9)):896-903 doi:10.1001/jamacardio.2025.2069.

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.

Cardiac fibroblasts counterbalance cardiomyocytes in LMNA cardiomyopathy pathogenesis.

Sikder K, Phillips E, Bouhrira N, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.06.05.657412.

Reciprocated tachycardias in cardiac laminopathy: a clinical case report.

Zhelyakov E, Sonicheva-Paterson N, Aleksandrova S, et al.

European heart journal. Case reports 2025; (9(9)):ytaf417 doi:10.1093/ehjcr/ytaf417.

Predictive value of ambulatory ECG monitoring for malignant arrhythmic events in genetic dilated cardiomyopathy.

Venner MFGHM, Heymans ABM, Beelen NJ, 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 2025; (27(11)) doi:10.1093/europace/euaf279.

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.

Meta-analysis of the role of cardiac magnetic resonance in laminopathy.

Shahshenas S, Anissian A, Jalali Nadoushan M, Soltanipur M

Archives of cardiovascular diseases 2026; (119(5)):357-367 doi:10.1016/j.acvd.2026.02.003.

Cardiac and extracardiac outcomes after heart transplantation in laminopathies.

Giordano G, Coutance G, Wahbi K, et al.

Heart (British Cardiac Society) 2026; doi:10.1136/heartjnl-2026-327844.