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Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

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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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Acknowledgments

This work was supported by ‘Fundació La Caixa’ and RETICS (Red Cardiovascular Enfermedades. RETICS Cardiopatías Familiares y Congénitas. Instituto de Salud Carlos III).

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Authors and Affiliations

  1. Cardiovascular Genetics Centre, IDIBGI-University of Girona, C/Pic de Peguera 11, 17003, Girona, Spain

    Mireia Alcalde, Oscar Campuzano, Catarina Allegue, Anna Iglesias & Ramon Brugada

  2. Medical Science Department, School of Medicine, University of Girona, Girona, Spain

    Oscar Campuzano & Ramon Brugada

  3. Arrhythmias Unit, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain

    Georgia Sarquella-Brugada & Josep Brugada

  4. Arrhythmia Unit, Hospital Clinic Barcelona, University of Barcelona, Barcelona, Spain

    Elena Arbelo & Josep Brugada

  5. Institute of Public Health, Section Legal Medicine, Catholic University, School Medicine, Rome, Italy

    Sara Partemi & Antonio Oliva

  6. Cardiology Service, Hospital Josep Trueta, Girona, Spain

    Ramon Brugada

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  1. Mireia Alcalde
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  2. Oscar Campuzano
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  3. Georgia Sarquella-Brugada
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  4. Elena Arbelo
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  5. Catarina Allegue
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  6. Sara Partemi
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  7. Anna Iglesias
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  8. Antonio Oliva
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  9. Josep Brugada
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  10. Ramon Brugada
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Correspondence to Oscar Campuzano.

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Alcalde, M., Campuzano, O., Sarquella-Brugada, G. et al. Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy. Clin Res Cardiol 104, 288–303 (2015). https://doi.org/10.1007/s00392-014-0794-z

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  • DOI: https://doi.org/10.1007/s00392-014-0794-z

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