{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T11:42:22Z","timestamp":1769600542502,"version":"3.49.0"},"reference-count":12,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Georg und Bertha Schwyzer-Winiker Foundation","award":["FF17019"],"award-info":[{"award-number":["FF17019"]}]},{"name":"Georg und Bertha Schwyzer-Winiker Foundation","award":["320030\u2013160327"],"award-info":[{"award-number":["320030\u2013160327"]}]},{"name":"Swiss National Science Foundation","award":["FF17019"],"award-info":[{"award-number":["FF17019"]}]},{"name":"Swiss National Science Foundation","award":["320030\u2013160327"],"award-info":[{"award-number":["320030\u2013160327"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (DSP) 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 DSP 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such as CCS, particularly if molecular screening has been performed in the pre-NGS era with an incomplete NGS panel or outdated technology as presented in this case report.<\/jats:p>","DOI":"10.3390\/jcm12030913","type":"journal-article","created":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T04:22:16Z","timestamp":1674620536000},"page":"913","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3374-2583","authenticated-orcid":false,"given":"Tolga","family":"\u00c7imen","sequence":"first","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5586-3418","authenticated-orcid":false,"given":"Argelia","family":"Medeiros-Domingo","sequence":"additional","affiliation":[{"name":"Swiss DNAlysis Laboratory, 8600 Dubendorf, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonios","family":"Kolios","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deniz","family":"Akdi\u015f","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4357-8913","authenticated-orcid":false,"given":"Shehab","family":"Anwer","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix C.","family":"Tanner","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinna","family":"Brunckhorst","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4748-0158","authenticated-orcid":false,"given":"Firat","family":"Duru","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland"},{"name":"Center for Integrative Human Physiology (ZIHP), University of Zurich, 8057 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1896-0803","authenticated-orcid":false,"given":"Ardan M.","family":"Saguner","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1161\/CIRCULATIONAHA.119.044934","article-title":"Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"141","author":"Smith","year":"2020","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1111\/jdv.18164","article-title":"A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign","volume":"36","author":"Karvonen","year":"2022","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1038\/s41431-017-0004-3","article-title":"Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy","volume":"25","author":"Robyns","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1093\/eurheartj\/ehq025","article-title":"Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: Proposed modification of the Task Force Criteria","volume":"31","author":"Marcus","year":"2010","journal-title":"Eur. Heart J."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.ijcard.2020.06.005","article-title":"Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria","volume":"319","author":"Corrado","year":"2020","journal-title":"Int. J. Cardiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.hrthm.2020.09.015","article-title":"Differentiating hereditary arrhythmogenic right ventricular cardiomyopathy from cardiac sarcoidosis fulfilling 2010 ARVC Task Force Criteria","volume":"18","author":"Gasperetti","year":"2021","journal-title":"Heart Rhythm."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1086\/344208","article-title":"Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy","volume":"71","author":"Rampazzo","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1093\/eurheartj\/ehi341","article-title":"Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations","volume":"26","author":"Bauce","year":"2005","journal-title":"Eur. Heart J."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1111\/bjd.17388","article-title":"Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype","volume":"180","author":"Maruthappu","year":"2019","journal-title":"Br. J. Dermatol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e002467","DOI":"10.1161\/CIRCGEN.119.002467","article-title":"Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo","volume":"12","author":"Murray","year":"2019","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s11886-021-01489-0","article-title":"Role of Exercise as a Modulating Factor in Arrhythmogenic Cardiomyopathy","volume":"23","author":"Zorzi","year":"2021","journal-title":"Curr. Cardiol. 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