Genetics of arrhythmogenic right ventricular cardiomyopathy

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

doi:10.1136/jmedgenet-2013-101523

Genetics of arrhythmogenic right ventricular cardiomyopathy

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

Research output: Contribution to journal › Article › peer-review

39 Citations (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.

Original language	English
Pages (from-to)	N/A-N/A
Journal	EJMG
DOIs	https://doi.org/10.1136/jmedgenet-2013-101523
Publication status	Published - 2013

Keywords

arrhythmias
sudden cardiac death

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title = "Genetics of arrhythmogenic right ventricular cardiomyopathy",

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.",

keywords = "arrhythmias, sudden cardiac death, arrhythmias, sudden cardiac death",

author = "Oscar Campuzano and Mireia Alcalde and Catarina Allegue and Anna Iglesias and Pablo Garc{\'i}a-Pav{\'i}a and Sara Partemi and Antonio Oliva and Pascali, {Vincenzo Lorenzo} and Paola Berne and Georgia Sarquella-Brugada and Josep Brugada and Pedro Brugada and Ramon Brugada",

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doi = "10.1136/jmedgenet-2013-101523",

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T1 - Genetics of arrhythmogenic right ventricular cardiomyopathy

AU - Campuzano, Oscar

AU - Alcalde, Mireia

AU - Allegue, Catarina

AU - Iglesias, Anna

AU - García-Pavía, Pablo

AU - Partemi, Sara

AU - Oliva, Antonio

AU - Pascali, Vincenzo Lorenzo

AU - Berne, Paola

AU - Sarquella-Brugada, Georgia

AU - Brugada, Josep

AU - Brugada, Pedro

AU - Brugada, Ramon

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - arrhythmias

KW - sudden cardiac death

KW - arrhythmias

KW - sudden cardiac death

UR - http://hdl.handle.net/10807/41472

U2 - 10.1136/jmedgenet-2013-101523

DO - 10.1136/jmedgenet-2013-101523

M3 - Article

SN - 1468-6244

SP - N/A-N/A

JO - EJMG

JF - EJMG

ER -

Genetics of arrhythmogenic right ventricular cardiomyopathy

Abstract

Keywords

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