Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy.
Neth Heart J
; 20(5): 234-9, 2012 May.
Article
em En
| MEDLINE
| ID: mdl-22527912
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Prevalence_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Neth Heart J
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Holanda