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Case Report

Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease

1
Cardiology Department, Inherited Cardiac Conditions Clinic, Queen Elizabeth University Hospital, 1345 Govan Road, Glasgow G51 4TF, UK
2
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, 1345 Govan Road, Glasgow G51 4TF, UK
3
Department of Pathology, Queen Elizabeth University Hospital, 1345 Govan Road, Glasgow G51 4TF, UK
*
Author to whom correspondence should be addressed.
Academic Editors: Tiina Heliö, Juha W. Koskenvuo and Katriina Aalto-Setälä
Cardiogenetics 2021, 11(4), 219-229; https://doi.org/10.3390/cardiogenetics11040022
Received: 20 September 2021 / Revised: 24 October 2021 / Accepted: 2 November 2021 / Published: 10 November 2021
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led to the newer term of arrhythmogenic cardiomyopathy (ACM). We report on a family with autosomal dominant desmoplakin (DSP) related ACM to illustrate the broad clinical spectrum of disease. The importance of evaluation of relatives with cardiac magnetic resonance imaging and consideration of genetic testing in the absence of Task Force diagnostic criteria is discussed. The practical and ethical issues of access to the Guthrie collection for deoxyribonucleic acid (DNA) testing are considered. View Full-Text
Keywords: arrhythmogenic cardiomyopathy; desmoplakin; blood spot; Task Force criteria; arrhythmogenic right ventricular cardiomyopathy arrhythmogenic cardiomyopathy; desmoplakin; blood spot; Task Force criteria; arrhythmogenic right ventricular cardiomyopathy
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MDPI and ACS Style

Simpson, J.; Anusas, J.; Oxnard, D.; Wright, S.; McGowan, R.; Coats, C. Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease. Cardiogenetics 2021, 11, 219-229. https://doi.org/10.3390/cardiogenetics11040022

AMA Style

Simpson J, Anusas J, Oxnard D, Wright S, McGowan R, Coats C. Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease. Cardiogenetics. 2021; 11(4):219-229. https://doi.org/10.3390/cardiogenetics11040022

Chicago/Turabian Style

Simpson, Joanne, Joan Anusas, Denise Oxnard, Sylvia Wright, Ruth McGowan, and Caroline Coats. 2021. "Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease" Cardiogenetics 11, no. 4: 219-229. https://doi.org/10.3390/cardiogenetics11040022

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