Genetics of arrhythmogenic right ventricular cardiomyopathy

Antonio Oliva, Vincenzo Lorenzo Pascali, Sara Partemi, Oscar Campuzano, Mireia Alcalde, Catarina Allegue, Anna Iglesias, Pablo García-Pavía, Paola Berne, Georgia Sarquella-Brugada, Josep Brugada, Pedro Brugada, Ramon Brugada

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

38 Citazioni (Scopus)

Abstract

Arrhythmogenic right ventricular cardiomyopathy is a rare clinical entity characterised by fibro-fatty replacement of myocardium, mainly involving right ventricular free wall, leading to malignant electrical instability and sudden cardiac death. The disease is inherited in up to 50% of cases, with incomplete penetrance and variable phenotypic expression. To date, more than 300 pathogenic mutations have been identified in 12 genes, mainly with autosomal dominant inheritance. Here, we focus on recent advances in the genetics of arrhythmogenic right ventricular cardiomyopathy. Despite continuous improvements, current genotype-phenotype studies have not contributed yet to establish a genetic risk stratification of the disease.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaEJMG
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • arrhythmias
  • sudden cardiac death

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