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

K A Jacob; M Noorman; M G P J Cox; J A Groeneweg; R N W Hauer; M A G van der Heyden

doi:10.1007/s12471-012-0274-x

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

Neth Heart J. 2012 May;20(5):234-9. doi: 10.1007/s12471-012-0274-x.

Authors

K A Jacob¹, M Noorman, M G P J Cox, J A Groeneweg, R N W Hauer, M A G van der Heyden

Affiliation

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

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.