Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

Mireia Alcalde; Oscar Campuzano; Georgia Sarquella-Brugada; Elena Arbelo; Catarina Allegue; Sara Partemi; Anna Iglesias; Antonio Oliva; Josep Brugada; Ramon Brugada

doi:10.1007/s00392-014-0794-z

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

Mireia Alcalde, Oscar Campuzano, Georgia Sarquella-Brugada, Elena Arbelo, Catarina Allegue, Sara Partemi, Anna Iglesias, Antonio Oliva, Josep Brugada, Ramon Brugada

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

11 Citations (Scopus)

Abstract

Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. New genetic technologies allow further genetic analysis, generating a significant amount of genetic data in novel genes, which is often classified as of ambiguous significance. We focus on genetic advances of arrhythmogenic right ventricular cardiomyopathy, helping clinicians to interpret and translate genetic data into clinical practice.

Original language	English
Pages (from-to)	288-303
Number of pages	16
Journal	Clinical Research in Cardiology
Volume	104
DOIs	https://doi.org/10.1007/s00392-014-0794-z
Publication status	Published - 2015

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ARVD

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10.1007/s00392-014-0794-z

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title = "Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy",

abstract = "Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. New genetic technologies allow further genetic analysis, generating a significant amount of genetic data in novel genes, which is often classified as of ambiguous significance. We focus on genetic advances of arrhythmogenic right ventricular cardiomyopathy, helping clinicians to interpret and translate genetic data into clinical practice.",

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author = "Mireia Alcalde and Oscar Campuzano and Georgia Sarquella-Brugada and Elena Arbelo and Catarina Allegue and Sara Partemi and Anna Iglesias and Antonio Oliva and Josep Brugada and Ramon Brugada",

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AU - Alcalde, Mireia

AU - Campuzano, Oscar

AU - Sarquella-Brugada, Georgia

AU - Arbelo, Elena

AU - Allegue, Catarina

AU - Partemi, Sara

AU - Iglesias, Anna

AU - Oliva, Antonio

AU - Brugada, Josep

AU - Brugada, Ramon

PY - 2015

Y1 - 2015

N2 - Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. New genetic technologies allow further genetic analysis, generating a significant amount of genetic data in novel genes, which is often classified as of ambiguous significance. We focus on genetic advances of arrhythmogenic right ventricular cardiomyopathy, helping clinicians to interpret and translate genetic data into clinical practice.

AB - Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. New genetic technologies allow further genetic analysis, generating a significant amount of genetic data in novel genes, which is often classified as of ambiguous significance. We focus on genetic advances of arrhythmogenic right ventricular cardiomyopathy, helping clinicians to interpret and translate genetic data into clinical practice.

KW - ARVD

UR - http://hdl.handle.net/10807/65926

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DO - 10.1007/s00392-014-0794-z

M3 - Article

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VL - 104

SP - 288

EP - 303

JO - Clinical Research in Cardiology

JF - Clinical Research in Cardiology

ER -

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

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