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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MDPI AG
2023-01-01
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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such as CCS, particularly if molecular screening has been performed in the pre-NGS era with an incomplete NGS panel or outdated technology as presented in this case report. |
first_indexed | 2024-03-11T09:39:00Z |
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institution | Directory Open Access Journal |
issn | 2077-0383 |
language | English |
last_indexed | 2024-03-11T09:39:00Z |
publishDate | 2023-01-01 |
publisher | MDPI AG |
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series | Journal of Clinical Medicine |
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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