Emery Dreifuss Müsküler Distrofili (Edmd) Hastada Anestezi Yaklaşımı: Olgu Sunumu
Özet
Referanslar
Yunisova G, Ceylaner S, Oflazer P, Deymeer F, Parman YG, Durmus H. Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study. Neuromuscul Disord. 2022 Sep;32(9):718-727. doi: 10.1016/j.nmd.2022.07.397. Epub 2022 Jul 13. PMID: 35922275.
Cestan R, Lajonne NJ. Dystrophie musculaire. Iconogr Salpetriere. 1902;155:35.
Emery AE, Dreifuss FE. Unusual type of benign x‐linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966;29(4):338‐342.
Rowland LP, Fetell M, Olarte M, Hays A, Singh N, Wanat FE. Emery‐Dreifuss muscular dystrophy. Ann Neurol. 1979;5(2):111‐117.
Heller SA, Shih R, Kalra R, Kang PB. Emery-Dreifuss muscular dystrophy. Muscle Nerve. 2020 Apr;61(4):436-448. doi: 10.1002/mus.26782. Epub 2019 Dec 28. PMID: 31840275; PMCID: PMC7154529.
Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larrañaga-Moreira JM, Medo K, Bermúdez-Jiménez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodríguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jiménez-Jáimez J, Garcia-Pavia P, Charron P, Biagini E, García Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure. Eur Heart J. 2023 Dec 21;44(48):5064-5073. doi: 10.1093/eurheartj/ehad561. PMID: 37639473; PMCID: PMC10733739.
Kandert S, Luke Y, Kleinhenz T, et al. Nesprin‐2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells. Hum Mol Genet. 2007;16(23):2944‐2959.
Wheeler MA, Davies JD, Zhang Q, et al. Distinct functional domains in nesprin‐1alpha and nesprin‐2beta bind directly to emerin and both interactions are disrupted in X‐linked Emery‐Dreifuss muscular dystrophy. Exp Cell Res. 2007;313(13):2845‐2857.
Mah JK, Korngut L, Fiest KM, Dykeman J, Day LJ, Pringsheim T, et al. A systematic review and meta-analysis on the epidemiology of the muscular dystrophies. Can J Neurol Sci 2016;43:163–77. 10.1017/CJN.2015.311
Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285–8. 10.1038/6799
van Berlo JH, de Voogt WG, van der Kooi AJ, et al. Meta‐analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med (Berl). 2005;83(1):79‐83.
Bonne G, Leturcq F, Ben Yaou R. Emery-Dreifuss Muscular Dystrophy. 2004 Sep 29 [Updated 2019 Aug 15]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1436/
Madej‐Pilarczyk A. Clinical aspects of Emery‐Dreifuss muscular dystrophy. Nucleus. 2018;9(1):268‐274. [DOI] [PMC free article] [PubMed] [Google Scholar]
Eymard B, Ferreiro A, Ben Yaou R, Stojkovic T. Muscle diseases with prominent joint contractures: main entities and diagnostic strategy. Rev Neurol (Paris). 2013;169(8–9):546‐563. [DOI] [PubMed] [Google Scholar]
Kang PB, Lidov HG, David WS, et al. Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. Ann Neurol. 2003;54(6):790‐795.
Hsu DT. Cardiac manifestations of neuromuscular disorders in children. Paediatr Respir Rev. 2010;11(1):35‐38.
Verhaert D, Richards K, Rafael‐Fortney JA, Raman SV. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging. 2011;4(1):67‐76.
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000 Aug;48(2):170-80. PMID: 10939567.
Alzira Alves C., Jose L. et al. Emery-Dreifuss muscular dystrophy anotomical-clinical corelation. Arq Neuropsiquiatr 2000;58:1123-27.
Zipes DP, Libby P, Bonnow RO, Braunwald E. Braunwald’s Heart Disease. A textbook of cardiovascular medicine, 7th edition. Elsevier, Inc 2005:2146-82.
James M. Holaska and Katherine L. et al. Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. Anat Rec A Discov Mol Cell Evol Biol 2006; 288:676–80.
Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011;101:155-66.
Feingold B, Mahle WT, Auerbach S, et al. Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation. 2017;136(13):e200‐e231.
Epstein AE, DiMarco JP, Ellenbogen KA, et al. ACC/AHA/HRS 2008 Guidelines for Device‐Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices) developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons. J Am Coll Cardiol. 2008;51(21):e1‐e62.
Epstein AE, DiMarco JP, Ellenbogen KA, et al. 2012 ACCF/AHA/HRS focused update incorporated into the ACCF/AHA/HRS 2008 guidelines for device‐based therapy of cardiac rhythm abnormalities: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society. J Am Coll Cardiol. 2013;61(3):e6‐e75.
Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med. 2006;354(2):209‐210.
Anselme F, Moubarak G, Savoure A, et al. Implantable cardioverter‐defibrillators in lamin A/C mutation carriers with cardiac conduction disorders. Heart Rhythm. 2013;10(10):1492‐1498.
Finsterer J, Stollberger C, Keller H. Arrhythmia‐related workup in hereditary myopathies. J Electrocardiol. 2012;45(4):376‐384.
Kichuk Chrisant MR, Drummond‐Webb J, Hallowell S, Friedman NR. Cardiac transplantation in twins with autosomal dominant Emery‐Dreifuss muscular dystrophy. J Heart Lung Transplant. 2004;23(4):496‐498.
Dell'Amore A, Botta L, Martin Suarez S, et al. Heart transplantation in patients with Emery‐Dreifuss muscular dystrophy: case reports. Transplant Proc. 2007;39(10):3538‐3540.
Qader A. Kidney Dysfunction: A Hidden Torment of Muscular Dystroph, https://www.kireportscommunity.org/post/kidney-dysfunction-a-hidden-torment-of-muscular-dystrophy (Access Date: 11 July 2025)
Madej-Pilarczyk A. Clinical aspects of Emery-Dreifuss muscular dystrophy. Nucleus. 2018 Jan 1;9(1):268-274. doi: 10.1080/19491034.2018.1462635. PMID: 29633897; PMCID: PMC5973255.
Hausmanowa-Petrusewicz I, Madej-Pilarczyk A, Marchel M, et al.. Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest. Neurol Neurochir Pol. 2009;43:415–20.
Boriani G, Gallina M, Merlini L, et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery‐Dreifuss muscular dystrophy: a long‐term longitudinal study. Stroke. 2003;34(4):901‐908.
Ulusoy E. K, Kunak T, Bilen Ş, Ak F. Kardiyak tutulum sonrası gelişen iskemik inme: Emergy Dreifuss hastası. Türk Beyin Damar Hastalıkları Dergisi 2015; 21 (2): 142-145. doi: 10.5505/tbdhd.2015.47450.
Miller RG, Layzer RB, Mellenthin MA, Golabi M, Francoz RA, Mall JC. Emery- Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology 1985;35:1230-3.
Özocak I, Özer Y, Altunkaya H, Demirel C.B. Numanoğlu V. An Anaesthetic Approach To A Case With Emery-Dreifuss Muscular Dystrophy, Journal of Neurological Sciences 2005;22:(2):195-199,
Jensen V. The anaesthetic management of a patient with Emery-Dreifuss muscular dystrophy. Can J Anaesth 1996;43:968-71.
Vianello A, Arcaro G, Peditto P, Iovino S, Marchese-Ragona R. Acute colonic distension in a patient with severe muscular dystrophy receiving non-invasivepositive pressure ventilation. Neuromuscul Disord 2018;28:60–1 .
Fiorentino G, Esquinas AM. Colonic distension treatment in Duchenne muscular dystrophy. Neuromuscul Disord 2019;29:157–8 .
Vianello A, Arcaro G, Ferrarese S, Molena B, Giraudo C. Acute colonic pseudo-obstruction causing acute respiratory failure in Duchenne muscular dystrophy. Pulmonology 2021;27:273–6 .
Pitrone P, Cattafi A, Magnani F, Carerj ML, Bellone IG, Nirta G, et al. Erratum:spontaneous transverse colon volvulus in a patient with Duchenne muscular dystrophy: an unreported complication. Radiol Case Rep 2023;18:2318–22 .
Watson-Fargie T, Raeside D, Davidson S, McCartney R, Clarke A, Farrugia ME.Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series. Neuromuscul Disord 2022;32:578–81 .
Shende D, Agarwal R. Anaesthetic management of a patient with Emery- Dreifuss muscular dystrophy. Anaesth Intensive Care 2002;30:372-5.
Hoenemann CW, Halene-Holtgraeve TB, Booke M, Hinder F, Daudel F, Reich A, Van Aken H. Delayed onset of malignant hyperthermia in desflurane anesthesia. Anesth Analg 2003;96:165-7.
Michalek-Sauberer A, Fricker R, Gradwohl I, Gilly H. A case of suspected malignant hyperthermia during desflurane administration. Anesth Analg 1997;85:461-2
Kunst G, Stucke AG, Graf BM, Martin E, Fink RH. Desflurane induces only minor Ca2+ release from the sarcoplasmic reticulum of mammalian skeletal muscle. Anesthesiology 2000;93:832-6.
Aldwinckle, R.J., Carr, A.S. The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery. Can J Anesth 2002;49:467–470
Ririe DG, Shapiro F, Sethna NF. The response of patients with Duchenne’s muscular dystrophy to neu- romuscular blockade with vecuronium. Anaesthesiology 1998; 88: 351–4.
Jupalli A, Iqbal AM. Enoxaparin. 2023 Aug 28. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 30969687.
Nutescu EA, Burnett A, Fanikos J, Spinler S, Wittkowsky A. Pharmacology of anticoagulants used in the treatment of venous thromboembolism. J Thromb Thrombolysis. 2016 Jan;41(1):15-31.
Febbraro S, Leal Martínez-Bujanda J, Nieto Magro C, Bettica P. Bioavailability study of Enoxaparin Sodium Chemi (80 mg/0.8 mL) and Clexane (80 mg/0.8 mL) subcutaneous injection in healthy adults. Int J Clin Pharmacol Ther. 2021 Nov;59(11):734-744.
Shaikh SA, Regal RE. Dosing of Enoxaparin in Renal Impairment. P T. 2017 Apr;42(4):245-249.