Cardiovascular Pathology
Volume 19, Issue 3 , Pages 166-170 , May 2010

Arrhythmogenic right ventricular cardiomyopathy: new insights into mechanisms of disease

  • Jeffrey E. Saffitz

      Affiliations

    • Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, USA
    • Corresponding Author InformationCorresponding author. Department of Pathology, Beth Israel Deaconess Medical Center, 330 Brookline Ave., Boston, MA 02115, USA. Tel.: +1 617 667 4343; fax: +1 617 667 2943.
    • ,
  • Angeliki Asimaki

      Affiliations

    • Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, USA
    • ,
  • Hayden Huang

      Affiliations

    • Department of Biomedical Engineering, Columbia University, New York, NY, USA

Received 4 August 2009 ,Revised 6 October 2009 ,Accepted 28 October 2009.

References 

  1. Muthappan P, Calkins H. Arrhythmogenic right ventricular dysplasia. Prog Cardiovasc Dis. 2008;51:31–43
  2. Thiene G, Basso C. Arrhythmogenic right ventricular cardiomyopathy: an update. Cardiovasc Pathol. 2001;10:109–117
  3. Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol. 2005;16:927–935
  4. Zhurinsky J, Shtutman M, Ben-Ze'ev A. Plakoglobin and β-catenin: protein interactions, regulation and biological roles. J Cell Sci. 2000;113:3127–3139
  5. Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004;13:185–194
  6. Asimaki A, Syrris P, Wichter T, Mathias P, Saffitz JE, McKenna WJ. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Human Genet. 2007;81:964–973
  7. Saffitz JE. Dependence of electrical coupling on mechanical coupling in cardiac myocytes. In:  Thiene G,  Pessina AC editor. Advances in Cardiovascular Medicine. Universitá degli Studi di Padova; 2003;p. 15–28
  8. Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, et al. Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest. 2006;116:2012–2021
  9. Kaplan SR, Gard JJ, Protonotarios N, Tsatsopoulou A, Spiliopoulou C, Anastasakis A, et al. Remodeling of gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm. 2004;1:3–11
  10. Kaplan SR, Gard JJ, Carvajal-Huerta L, Ruiz-Cabezas JC, Thiene G, Saffitz JE. Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol. 2004;13:26–32
  11. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar 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
  12. Norgett EE, Hatsell SJ, Carvajal-Huerta K, Carbezas JCR, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Gen. 2000;9:2761–2766
  13. Asimaki A, Tandri H, Huang H, Halushka MK, Gautam S, Basso C, et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Eng J Med. 2009;360:1075–1084
  14. Yamada K, Green KG, Samarel AM, Saffitz JE. Distinct pathways regulate expression of cardiac electrical and mechanical junction proteins in response to stretch. Circ Res. 2005;97:346–353
  15. Huang H, Asimaki A, Lo D, McKenna WJ, Saffitz JE. Disparate effects of different mutations in plakoglobin on cell mechanical behavior. Cell Motil Cytoskel. 2008;65:964–978

 Angeliki Asimaki was supported by the Kenneth M. Rosen Fellowship in Cardiac Pacing and Electrophysiology from the Heart Rhythm Society and Hayden Huang was supported by the Lerner Fund.

PII: S1054-8807(09)00134-3

doi: 10.1016/j.carpath.2009.10.006

Cardiovascular Pathology
Volume 19, Issue 3 , Pages 166-170 , May 2010

Article Tools

* Image Usage & Resolution