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

被引：0
作者：
K. A. Jacob
M. Noorman
M. G. P. J. Cox
J. A. Groeneweg
R. N. W. Hauer
M. A. G. van der Heyden
机构：
[1] University Medical Center Utrecht,Department of Medical Physiology, Division of Heart & Lungs
[2] University Medical Center Utrecht,Department of Cardiology, Division of Heart & Lungs
[3] Interuniversity Cardiology Institute of the Netherlands (ICIN),undefined
来源：
Netherlands Heart Journal | 2012年 / 20卷
关键词：
Cardiomyopathy; Plakophilin-2; Mutation; Desmosome; Prevalence; Geography;
D O I：
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中图分类号：
学科分类号：
摘要：
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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页码：234 / 239
页数：5
相关论文
共 136 条
  • [1] Basso C(2009)Arrhythmogenic right ventricular cardiomyopathy Lancet 373 1289-1289
  • [2] Corrado D(2009)Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare ‘disease of the desmosome’ with multiple clinical presentations Clin Res Cardiol 98 141-58
  • [3] Marcus FI(2001)Task Force on sudden cardiac death of the European Society of Cardiology Eur Heart J. 22 1374-450
  • [4] Nava A(2009)Cardiac cell-cell junctions in health and disease: Electrical versus mechanical coupling J Mol Cell Cardiol 47 23-31
  • [5] Thiene G(2011)Cortactin is required for N-cadherin regulation of Kv1.5 channel function J Biol Chem 286 20478-89
  • [6] Herren T(2004)Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Nat Genet 36 62-1164
  • [7] Gerber PA(2009)ARVC Registry of the Cardiac Arrhythmia Society of Southern Africa (CASSA). Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa Hear Rhythm 6 S10-7
  • [8] Duru F(2011)Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy Hear Rhythm 8 1214-21
  • [9] Priori SG(2010)Recurrent and founder mutations in the Netherlands Neth Heart J. 18 583-91
  • [10] Aliot E(2010)Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria Eur Heart J. 31 806-14
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