Heart Rhythm
Volume 7, Issue 1 , Pages 30-32 , January 2010

Mutations in desmosomal protein genes and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

  • Jeffrey E. Saffitz, MD, PhD

      Affiliations

    • Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts
    • Harvard Medical School, Boston, Massachusetts
    • Corresponding Author InformationAddress reprint requests and correspondence: Dr. Jeffrey E. Saffitz, Department of Pathology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Room E106, Boston, Massachusetts 02215
    • ,
  • Calum A. MacRae, MD, PhD

      Affiliations

    • Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts
    • Harvard Medical School, Boston, Massachusetts

References 

  1. Sen-Chowdhry S, Lowe MD, Sporton SC, McKenna WJ. Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis and management. Am J Med. 2004;117:685–695
  2. Sen-Chowdhry S, Syrris P, Prasad SK, et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol. 2008;52:2175–2187
  3. Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007;50:1813–1821
  4. Awad MM, Calkins H, Judge DP. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2008;5:258–267
  5. McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;355:2119–2124
  6. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9:2761–2766
  7. Beffagna G, Occhi G, Nava A, et al. Regulatory mutations in transforming growth factor beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005;65:366–373
  8. Tiso N, Stephan DA, Nava A, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001;10:189–194
  9. Merner ND, Hodgkinson KA, Haywood AF, et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal, arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008;82:809–821
  10. Bauce B, Nava A, Beffagna G, et al. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm. 2010;7:22–29
  11. Asimaki A, Tandri H, Huang H, et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. New Engl J Med. 2009;360:1075–1084
  12. Huang H, Asimaki A, Lo D, McKenna W, Saffitz J. Disparate effects of different mutations in plakoglobin on cell mechanical behavior. Cell Motil Cytoskel. 2008;65:964–978

PII: S1547-5271(09)01203-X

doi: 10.1016/j.hrthm.2009.10.028

Heart Rhythm
Volume 7, Issue 1 , Pages 30-32 , January 2010

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