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Laminopathy type Decaudain-Vigouroux

MedGen UID:
1375333
•Concept ID:
C4518324
•
Disease or Syndrome
Synonyms: laminopathy type Decaudain-Vigouroux; laminopathy with severe metabolic syndrome and myopathy
 
Monarch Initiative: MONDO:0015308

Definition

Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. [from MONDO]

Professional guidelines

PubMed

Small-Molecule Therapeutic Perspectives for the Treatment of Progeria.
Macicior J, Marcos-Ramiro B, Ortega-Gutiérrez S
Int J Mol Sci 2021 Jul 3;22(13) doi: 10.3390/ijms22137190. PMID: 34281245Free PMC Article
Implications of Genetic Testing in Dilated Cardiomyopathy.
Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG
Circ Genom Precis Med 2020 Oct;13(5):476-487. Epub 2020 Sep 3 doi: 10.1161/CIRCGEN.120.003031. PMID: 32880476
An encouraging progress report on the treatment of progeria and its implications for atherogenesis.
Oshima J, Hisama FM, Martin GM
Circulation 2014 Jul 1;130(1):4-6. Epub 2014 May 2 doi: 10.1161/CIRCULATIONAHA.114.010648. PMID: 24795391Free PMC Article

Recent clinical studies

Etiology

Sex Differences in Dilated Cardiomyopathy Prognosis.
Long C, Liu X, Xiong Q, Su Y, Hong K
Int Heart J 2022;63(1):36-42. doi: 10.1536/ihj.20-448. PMID: 35095074
Need for NAD(+): Focus on Striated Muscle Laminopathies.
Cardoso D, Muchir A
Cells 2020 Oct 7;9(10) doi: 10.3390/cells9102248. PMID: 33036437Free PMC Article
Implications of Genetic Testing in Dilated Cardiomyopathy.
Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG
Circ Genom Precis Med 2020 Oct;13(5):476-487. Epub 2020 Sep 3 doi: 10.1161/CIRCGEN.120.003031. PMID: 32880476
Lamin A involvement in ageing processes.
Cenni V, Capanni C, Mattioli E, Schena E, Squarzoni S, Bacalini MG, Garagnani P, Salvioli S, Franceschi C, Lattanzi G
Ageing Res Rev 2020 Sep;62:101073. Epub 2020 May 21 doi: 10.1016/j.arr.2020.101073. PMID: 32446955
Lamin A/C Cardiomyopathy: Implications for Treatment.
Chen SN, Sbaizero O, Taylor MRG, Mestroni L
Curr Cardiol Rep 2019 Nov 26;21(12):160. doi: 10.1007/s11886-019-1224-7. PMID: 31773301

Diagnosis

Left Bundle Branch Block-Induced Cardiomyopathy.
Murat S, Çavuşoğlu Y
Turk Kardiyol Dern Ars 2023 Jun;51(4):274-282. doi: 10.5543/tkda.2023.06737. PMID: 37272151
Implications of Genetic Testing in Dilated Cardiomyopathy.
Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG
Circ Genom Precis Med 2020 Oct;13(5):476-487. Epub 2020 Sep 3 doi: 10.1161/CIRCGEN.120.003031. PMID: 32880476
Nuclear Mechanopathology and Cancer Diagnosis.
Uhler C, Shivashankar GV
Trends Cancer 2018 Apr;4(4):320-331. Epub 2018 Mar 16 doi: 10.1016/j.trecan.2018.02.009. PMID: 29606315
Hutchinson-Gilford progeria syndrome.
Pollex RL, Hegele RA
Clin Genet 2004 Nov;66(5):375-81. doi: 10.1111/j.1399-0004.2004.00315.x. PMID: 15479179
Pathology of the cardiomyopathies.
Waller BF
J Am Soc Echocardiogr 1988 Jan-Feb;1(1):4-19. doi: 10.1016/s0894-7317(88)80060-9. PMID: 3078540

Therapy

Reactive Species in Progeroid Syndromes and Aging-Related Processes.
Crochemore C, Cimmaruta C, Fernández-Molina C, Ricchetti M
Antioxid Redox Signal 2022 Jul;37(1-3):208-228. Epub 2022 Jan 4 doi: 10.1089/ars.2020.8242. PMID: 34428933
New Drugs for Rare Disorders.
Aschenbrenner DS
Am J Nurs 2021 Feb 1;121(2):27. doi: 10.1097/01.NAJ.0000734120.60377.79. PMID: 33497125
Volanesorsen: First Global Approval.
Paik J, Duggan S
Drugs 2019 Aug;79(12):1349-1354. doi: 10.1007/s40265-019-01168-z. PMID: 31301033
Congenital neutropenia.
Christensen RD, Calhoun DA
Clin Perinatol 2004 Mar;31(1):29-38. doi: 10.1016/j.clp.2004.03.011. PMID: 15183654
Nonsustained ventricular tachycardia.
Buxton AE, Duc J, Berger EE, Torres V
Cardiol Clin 2000 May;18(2):327-36, viii. doi: 10.1016/s0733-8651(05)70144-2. PMID: 10849876

Prognosis

The secretome atlas of two mouse models of progeria.
Quintana-Torres D, Valle-Cao A, Bousquets-Muñoz P, Freitas-Rodríguez S, Rodríguez F, Lucia A, López-Otín C, López-Soto A, Folgueras AR
Aging Cell 2023 Oct;22(10):e13952. Epub 2023 Aug 10 doi: 10.1111/acel.13952. PMID: 37565451Free PMC Article
Epigenetics in LMNA-Related Cardiomyopathy.
Wang Y, Dobreva G
Cells 2023 Mar 1;12(5) doi: 10.3390/cells12050783. PMID: 36899919Free PMC Article
Implications of Genetic Testing in Dilated Cardiomyopathy.
Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG
Circ Genom Precis Med 2020 Oct;13(5):476-487. Epub 2020 Sep 3 doi: 10.1161/CIRCGEN.120.003031. PMID: 32880476
Gene of the month: SDH.
Aldera AP, Govender D
J Clin Pathol 2018 Feb;71(2):95-97. Epub 2017 Oct 25 doi: 10.1136/jclinpath-2017-204677. PMID: 29070651
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T, Sola Carvajal A, Eriksson M
J Invest Dermatol 2015 Nov;135(11):2577-2583. Epub 2015 Jul 29 doi: 10.1038/jid.2015.295. PMID: 26290387

Clinical prediction guides

Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS.
Kim BH, Chung YH, Woo TG, Kang SM, Park S, Park BJ
Cells 2023 Sep 18;12(18) doi: 10.3390/cells12182299. PMID: 37759521Free PMC Article
The secretome atlas of two mouse models of progeria.
Quintana-Torres D, Valle-Cao A, Bousquets-Muñoz P, Freitas-Rodríguez S, Rodríguez F, Lucia A, López-Otín C, López-Soto A, Folgueras AR
Aging Cell 2023 Oct;22(10):e13952. Epub 2023 Aug 10 doi: 10.1111/acel.13952. PMID: 37565451Free PMC Article
Hutchinson-Gilford progeria syndrome.
Pollex RL, Hegele RA
Clin Genet 2004 Nov;66(5):375-81. doi: 10.1111/j.1399-0004.2004.00315.x. PMID: 15479179
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS
Nature 2003 May 15;423(6937):293-8. Epub 2003 Apr 25 doi: 10.1038/nature01629. PMID: 12714972Free PMC Article
The nuclear muscular dystrophies.
Wehnert MS, Bonne G
Semin Pediatr Neurol 2002 Jun;9(2):100-7. doi: 10.1053/spen.2002.33806. PMID: 12138994

Recent systematic reviews

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
Desgrouas C, Thalheim T, Cerino M, Badens C, Bonello-Palot N
Cardiovasc Res 2024 Mar 14;120(3):237-248. doi: 10.1093/cvr/cvae005. PMID: 38214891
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
Fernandez-Pombo A, Diaz-Lopez EJ, Castro AI, Sanchez-Iglesias S, Cobelo-Gomez S, Prado-Moraña T, Araujo-Vilar D
Cells 2023 Feb 24;12(5) doi: 10.3390/cells12050725. PMID: 36899861Free PMC Article
Sex Differences in Dilated Cardiomyopathy Prognosis.
Long C, Liu X, Xiong Q, Su Y, Hong K
Int Heart J 2022;63(1):36-42. doi: 10.1536/ihj.20-448. PMID: 35095074
Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.
Peña-Peña ML, Monserrat L
Rev Esp Cardiol (Engl Ed) 2019 Apr;72(4):333-340. Epub 2019 Feb 18 doi: 10.1016/j.rec.2018.10.017. PMID: 30792015
Syndromes of accelerated aging.
Martin GM
Natl Cancer Inst Monogr 1982;60:241-7. PMID: 6214719

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