Research & Literature

Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin.

Diker-Cohen T, Cochran E, Gorden P, Brown RJ

The Journal of clinical endocrinology and metabolism 2015; (100(5)):1802-10 doi:10.1210/jc.2014-4491.

Interdisciplinary psychosocial care for families with inherited cardiovascular diseases.

Caleshu C, Kasparian NA, Edwards KS, et al.

Trends in cardiovascular medicine 2016; (26(7)):647-53.

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)).

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.

Brown RJ, Araujo-Vilar D, Cheung PT, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(12)):4500-4511 doi:10.1210/jc.2016-2466.

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.

Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers: a follow-up study.

Ollila L, Heliö T, Sovijärvi A, et al.

Clinical physiology and functional imaging 2017; (37(1)):8-16 doi:10.1111/cpf.12260.

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood.

Richardson E, Spinks C, Davis A, et al.

Journal of genetic counseling 2018; (27(3)):549-557 doi:10.1007/s10897-017-0152-1.

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.

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

Hussain I, Patni N, Ueda M, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(3)):1005-1014 doi:10.1210/jc.2017-02078.

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes.

Boriani G, Biagini E, Ziacchi M, et al.

Nucleus (Austin, Tex.) 2018; (9(1)):442-459 doi:10.1080/19491034.2018.1506680.

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Vatier C, Vantyghem MC, Storey C, et al.

Current medical research and opinion 2019; (35(3)):543-552 doi:10.1080/03007995.2018.1533459.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Lessel D, Ozel AB, Campbell SE, et al.

Human genetics 2018; (137(11-12)):921-939 doi:10.1007/s00439-018-1957-1.

Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.

Piekarowicz K, Machowska M, Dzianisava V, Rzepecki R

Cells 2019; (8(2)) doi:10.3390/cells8020088.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, et al.

Circulation 2019; (140(4)):293-302 doi:10.1161/CIRCULATIONAHA.118.039410.

Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.

Sekizkardes H, Cochran E, Malandrino N, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(8)):3068-3076 doi:10.1210/jc.2018-02787.

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.

He G, Yan Z, Sun L, et al.

Endocrine journal 2019; (66(11)):961-969 doi:10.1507/endocrj.EJ19-0014.

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.

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.

Fukaishi T, Minami I, Masuda S, et al.

Endocrine journal 2020; (67(2)):211-218 doi:10.1507/endocrj.EJ19-0226.

Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report.

Jiajue R, Feng K, Wang R, Xia W

Calcified tissue international 2020; (106(3)):325-330 doi:10.1007/s00223-019-00639-5.

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.

Mosbah H, Vatier C, Boccara F, et al.

Cells 2020; (9(3)) doi:10.3390/cells9030765.

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Chmielewski P, Michalak E, Kowalik I, et al.

Journal of clinical medicine 2020; (9(5)) doi:10.3390/jcm9051443.

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.

Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.

Magno S, Ceccarini G, Pelosini C, et al.

Journal of the Endocrine Society 2020; (4(10)):bvaa108 doi:10.1210/jendso/bvaa108.

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.

Hussain I, Jin RR, Baum HBA, et al.

Journal of the Endocrine Society 2020; (4(10)):bvaa104 doi:10.1210/jendso/bvaa104.

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.

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A, Ben Yaou R, Wahbi K, et al.

Journal of neuromuscular diseases 2021; (8(3)):419-439 doi:10.3233/JND-200596.

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.

Adipocyte-Specific Deletion of Lamin A/C Largely Models Human Familial Partial Lipodystrophy Type 2.

Corsa CAS, Walsh CM, Bagchi DP, et al.

Diabetes 2021; (70(9)):1970-1984 doi:10.2337/db20-1001.

Hutchinson-Gilford Progeria Syndrome (Hgps) and Application of Gene Therapy Based Crispr/Cas Technology as A Promising Innovative Treatment Approach.

Rajeev M, Ratan C, Krishnan K, Vijayan M

Recent patents on biotechnology 2021; (15(4)):266-285 doi:10.2174/1872208315666210928114720.

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.

Advances in the care of lipodystrophies.

Shamsudeen I, Hegele RA

Current opinion in endocrinology, diabetes, and obesity 2022; (29(2)):152-160 doi:10.1097/MED.0000000000000695.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Mosbah H, Donadille B, Vatier C, et al.

Orphanet journal of rare diseases 2022; (17(Suppl 1)):170 doi:10.1186/s13023-022-02308-7.

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.

Lipodystrophy for the Diabetologist-What to Look For.

Patni N, Garg A

Current diabetes reports 2022; (22(9)):461-470 doi:10.1007/s11892-022-01485-w.

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.

Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.

Treiber G, Guilleux A, Huynh K, et al.

Diabetes & metabolism 2023; (49(2)):101409 doi:10.1016/j.diabet.2022.101409.

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.

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.

Fernandez-Pombo A, Diaz-Lopez EJ, Castro AI, et al.

Cells 2023; (12(5)) doi:10.3390/cells12050725.

A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.

Huang S, Zhang Y, Zhan Z, Gong S

Journal of diabetes investigation 2023; (14(10)):1221-1225 doi:10.1111/jdi.14055.

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.

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.

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

Besci O, Foss de Freitas MC, Guidorizzi NR, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(3)):e1204-e1224 doi:10.1210/clinem/dgad606.

Information provision and follow-up of French patients with implantable cardioverter-defibrillators: The APODEC survey.

Halin A, Hamelin JL, Defaye P, et al.

Archives of cardiovascular diseases 2023; (116(12)):572-579 doi:10.1016/j.acvd.2023.10.005.

Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review.

van Pottelberghe S, Kupper N, Scheirlynck E, et al.

European journal of human genetics : EJHG 2024; (32(6)):607-618 doi:10.1038/s41431-023-01510-w.

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.

Wilke MVMB, Wick M, Schwab TL, et al.

Genes 2024; (15(1)) doi:10.3390/genes15010112.

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.

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.

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.

Díaz-López EJ, Sánchez-Iglesias S, Castro AI, et al.

International journal of molecular sciences 2024; (25(17)) doi:10.3390/ijms25179324.

Disorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A.

Jin W, Jiang S, Liu X, et al.

Nature communications 2024; (15(1)):10046.

Safety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: Real-life experience from a national reference network.

Lamothe S, Belalem I, Vantyghem MC, et al.

Diabetes, obesity & metabolism 2025; (27(4)):1815-1825 doi:10.1111/dom.16175.

Extensive cardiac involvement in laminopathies diagnosed in pediatric-aged patients: A single-center study.

Hayes EA, Foreman K, Wright LK, et al.

Heart rhythm 2025; (22(12)):3308-3313 doi:10.1016/j.hrthm.2025.01.034.

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.

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.

Familial partial lipodystrophy type 2 associated with a novel LMNA variant (c.604G>C; p.Glu202Gln): a Colombian family case series.

Mendoza C, Cano R, Burgos L, Silvera CA

Frontiers in endocrinology 2026; (17()):1788846 doi:10.3389/fendo.2026.1788846.

Bridging the Gap Between Genetic Cardiomyopathies and Pregnancy.

Flores Rosario K, Hussien M, Grover P, et al.

JACC. Advances 2026; (5(6 Pt 1)):102784 doi:10.1016/j.jacadv.2026.102784.

Prevalence and predictors of adjustment disorder in patients with an implantable cardioverter-defibrillator.

Sila R, von Känel R, Attanasio V, et al.

Journal of psychosomatic research 2026; (209()):112866 doi:10.1016/j.jpsychores.2026.112866.