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BMC Medical Genetics

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Open Access 01-12-2015 | Case report

Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report

Authors: Teresa Trenkwalder, Isabel Deisenhofer, Martin Hadamitzky, Heribert Schunkert, Wibke Reinhard

Published in: BMC Medical Genetics | Issue 1/2015

Abstract

Background

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms the diagnosis of ARVC is still challenging and requires clinical testing and expert knowledge. Genetic testing of index patients is helpful in the primary diagnosis and further testing of family members may allow for prevention of sudden cardiac death.

Case presentation

We report a case of newly diagnosed ARVC where genetic testing identified a novel familial frame-shift mutation in the PKP2 gene. Screening of the family members identified both children and the father as mutation carriers following an autosomal-dominant inheritance pattern.

Conclusion

Our findings emphasize the importance of genetic family screening after the identification of a causative mutation in an index case.

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Title: Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report
Authors: Teresa Trenkwalder
Isabel Deisenhofer
Martin Hadamitzky
Heribert Schunkert
Wibke Reinhard
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2015
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-015-0263-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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