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Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy

Netherlands Heart Journal volume 20, pages 234–239 (2012)Cite this article

Abstract

Arrhythmogenic cardiomyopathy (AC) is characterised by myocardial fibrofatty tissue infiltration and presents with palpitations, ventricular arrhythmias, syncope and sudden cardiac death. AC is associated with mutations in genes encoding the desmosomal proteins plakophilin-2 (PKP2), desmoplakin (DSP), desmoglein-2 (DSG2), desmocollin-2 (DSC2) and junctional plakoglobin (JUP). In the present study we compared 28 studies (2004–2011) on the prevalence of mutations in desmosomal protein encoding genes in relation to geographic distribution of the study population. In most populations, mutations in PKP2 showed the highest prevalence. Mutation prevalence in DSP, DSG2 and DSC2 varied among the different geographic regions. Mutations in JUP were rarely found, except in Denmark and the Greece/Cyprus region.

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Acknowledgements

KAJ is a medical student participating in the Honours program of the Faculty of Medicine, UMC Utrecht. This work is financially supported by the Netherlands Heart Foundation grant 2007B139 and the Interuniversity Cardiology Institute of the Netherlands (ICIN) project # 06901.

Author information

Affiliations

  1. Department of Medical Physiology, Division of Heart & Lungs, University Medical Center Utrecht, Yalelaan 50, 3584, CM, Utrecht, the Netherlands

    K. A. Jacob, M. Noorman & M. A. G. van der Heyden

  2. Department of Cardiology, Division of Heart & Lungs, University Medical Center Utrecht, PO Box 85500, 3508, GA, Utrecht, the Netherlands

    K. A. Jacob, M. G. P. J. Cox, J. A. Groeneweg & R. N. W. Hauer

  3. Interuniversity Cardiology Institute of the Netherlands (ICIN), Utrecht, the Netherlands

    M. Noorman, M. G. P. J. Cox, J. A. Groeneweg & R. N. W. Hauer

Authors
  1. K. A. Jacob
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  2. M. Noorman
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  3. M. G. P. J. Cox
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  4. J. A. Groeneweg
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  5. R. N. W. Hauer
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  6. M. A. G. van der Heyden
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Corresponding author

Correspondence to M. A. G. van der Heyden.

Additional information

Kirolos A. Jacob and Maartje Noorman contributed equally to this study.

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Jacob, K.A., Noorman, M., Cox, M.G.P.J. et al. Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy. Neth Heart J 20, 234–239 (2012). https://doi.org/10.1007/s12471-012-0274-x

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  • DOI: https://doi.org/10.1007/s12471-012-0274-x

Keywords

  • Cardiomyopathy
  • Plakophilin-2
  • Mutation
  • Desmosome
  • Prevalence
  • Geography