Neuromuscular Disorders
Volume 20, Issue 3 , Pages 174-177 , March 2010

Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery–Dreifuss muscular dystrophy

  • Gerardo Nigro

      Affiliations

    • Department of Cardiothoracic and Respiratory Sciences, Arrhythmology Unit, Second University of Naples, Monaldi Hospital, Naples, Italy
    • ,
  • Vincenzo Russo

      Affiliations

    • Department of Cardiothoracic and Respiratory Sciences, Arrhythmology Unit, Second University of Naples, Monaldi Hospital, Naples, Italy
    • Corresponding Author InformationCorresponding author. Address: Chair of Cardiology – Monaldi Hospital, Via Leonardo Bianchi, 80131 Naples, Italy. Tel.: +39 081 7064149.
    • ,
  • Vega Maria Ventriglia

      Affiliations

    • Department of Experimental Medicine, Cardiomiology and Medical Genetics, Second University of Naples, Naples, Italy
    • ,
  • Nadia Della Cioppa

      Affiliations

    • Department of Anesthesiology, Pediatric Cardiac Surgery, Monaldi Hospital, Naples, Italy
    • ,
  • Alberto Palladino

      Affiliations

    • Department of Experimental Medicine, Cardiomiology and Medical Genetics, Second University of Naples, Naples, Italy
    • ,
  • Vincenzo Nigro

      Affiliations

    • Department of General Pathology, Second University of Naples, Naples, Italy
    • Centre of Excellence for Cardiovascular Diseases, Second University of Naples, Naples, Italy
    • ,
  • Raffaele Calabrò

      Affiliations

    • Department of Cardiothoracic and Respiratory Sciences, Arrhythmology Unit, Second University of Naples, Monaldi Hospital, Naples, Italy
    • ,
  • Giovanni Nigro

      Affiliations

    • Department of Experimental Medicine, Cardiomiology and Medical Genetics, Second University of Naples, Naples, Italy
    • Centre of Excellence for Cardiovascular Diseases, Second University of Naples, Naples, Italy
    • ,
  • Luisa Politano

      Affiliations

    • Department of Experimental Medicine, Cardiomiology and Medical Genetics, Second University of Naples, Naples, Italy
    • Centre of Excellence for Cardiovascular Diseases, Second University of Naples, Naples, Italy

Received 15 December 2008 ,Revised 2 December 2009 ,Accepted 3 December 2009.

References 

  1. Emery AE, Dreifuss FE. Unusual type of benign X-linked muscular dystrophies. J Neurol Neurosurg Psychiatry. 1966;29:338–342
  2. Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, et al. SSCP detection of novel mutations in patients with Emery–Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet. 1995;4(10):2003–2004
  3. Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, et al. X-linked Emery–Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol. 1997;42(2):249–253
  4. Epstein AE, Di Marco 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. Circulation. 2008;117(21):e350–e408
  5. Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, et al. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet. 2003;40(12):e132
  6. Becane HM, Bonne G, Varnous S, et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol. 2000;23:1661–1666
  7. Meune C, Van Berlo JH, Anselme F, et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med. 2006;354:209–210
  8. Walker S, Levy T, Rex S, Paul VE. Biventricular implantable cardioverter defibrillator use in a patient with heart failure and ventricular tachycardia secondary to Emery–Dreifuss syndrome. Europace. 1999;1:206–209
  9. Golzio PG, Chiribiri A, Gaita F. Unexpected sudden death avoided by implantable cardioverter-defibrillator in Emery–Dreifuss patient. Europace. 2007;9(12):1158–1160
  10. Zaim S, Bach J, Michaels J. Sudden death in an Emery–Dreifuss muscular dystrophy patient with an implantable defibrillator. Am J Phys Med Rehabil. 2008;87(4):325–329

PII: S0960-8966(09)00701-9

doi: 10.1016/j.nmd.2009.12.004

Neuromuscular Disorders
Volume 20, Issue 3 , Pages 174-177 , March 2010

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