A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis

Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (<i>DSP</i>) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old...

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Main Authors: Tolga Çimen, Argelia Medeiros-Domingo, Antonios Kolios, Deniz Akdiş, Shehab Anwer, Felix C. Tanner, Corinna Brunckhorst, Firat Duru, Ardan M. Saguner
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Journal of Clinical Medicine
Subjects:
Online Access:https://www.mdpi.com/2077-0383/12/3/913
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author Tolga Çimen
Argelia Medeiros-Domingo
Antonios Kolios
Deniz Akdiş
Shehab Anwer
Felix C. Tanner
Corinna Brunckhorst
Firat Duru
Ardan M. Saguner
author_facet Tolga Çimen
Argelia Medeiros-Domingo
Antonios Kolios
Deniz Akdiş
Shehab Anwer
Felix C. Tanner
Corinna Brunckhorst
Firat Duru
Ardan M. Saguner
author_sort Tolga Çimen
collection DOAJ
description Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (<i>DSP</i>) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting with a history of cardiomyopathy with recurrent sustained ventricular tachycardia and palmoplantar keratosis. The cardiological evaluation showed biventricular cardiomyopathy, and repeated genetic testing identified a novel <i>DSP</i> variant. Repeated genetic testingis clinically meaningful in patients with a high probability of a specific inherited cardiac disease, such as CCS, particularly if molecular screening has been performed in the pre-NGS era with an incomplete NGS panel or outdated technology as presented in this case report.
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spelling doaj.art-7865d13313d64b5cb4f72e1e3df0908d2023-11-16T17:09:00ZengMDPI AGJournal of Clinical Medicine2077-03832023-01-0112391310.3390/jcm12030913A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar KeratosisTolga Çimen0Argelia Medeiros-Domingo1Antonios Kolios2Deniz Akdiş3Shehab Anwer4Felix C. Tanner5Corinna Brunckhorst6Firat Duru7Ardan M. Saguner8Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, SwitzerlandSwiss DNAlysis Laboratory, 8600 Dubendorf, SwitzerlandDepartment of Dermatology, University Hospital Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, SwitzerlandCardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (<i>DSP</i>) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting with a history of cardiomyopathy with recurrent sustained ventricular tachycardia and palmoplantar keratosis. The cardiological evaluation showed biventricular cardiomyopathy, and repeated genetic testing identified a novel <i>DSP</i> variant. Repeated genetic testingis clinically meaningful in patients with a high probability of a specific inherited cardiac disease, such as CCS, particularly if molecular screening has been performed in the pre-NGS era with an incomplete NGS panel or outdated technology as presented in this case report.https://www.mdpi.com/2077-0383/12/3/913desmoplakinarrhythmogenic cardiomyopathycardiocutaneous syndromerepeat genetic testing
spellingShingle Tolga Çimen
Argelia Medeiros-Domingo
Antonios Kolios
Deniz Akdiş
Shehab Anwer
Felix C. Tanner
Corinna Brunckhorst
Firat Duru
Ardan M. Saguner
A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis
Journal of Clinical Medicine
desmoplakin
arrhythmogenic cardiomyopathy
cardiocutaneous syndrome
repeat genetic testing
title A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis
title_full A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis
title_fullStr A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis
title_full_unstemmed A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis
title_short A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis
title_sort novel heterozygous desmoplakin variant causes cardiocutaneous syndrome with arrhythmogenic cardiomyopathy and palmoplantar keratosis
topic desmoplakin
arrhythmogenic cardiomyopathy
cardiocutaneous syndrome
repeat genetic testing
url https://www.mdpi.com/2077-0383/12/3/913
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