{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T05:15:23Z","timestamp":1789708523753,"version":"4.0.1"},"reference-count":64,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"17","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2025,4,29]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND:<\/jats:title>\n                    <jats:p>\n                      Genetic variants in desmosomal cadherins, desmoglein 2 (\n                      <jats:italic>DSG2<\/jats:italic>\n                      ) and desmocollin 2 (\n                      <jats:italic>DSC2<\/jats:italic>\n                      ), cause a distinct form of arrhythmogenic right ventricular cardiomyopathy (ARVC), which remains poorly reported. In this study, we aimed to provide a comprehensive description of the phenotypic expression, natural history, and clinical outcomes of patients with this ARVC subset.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS:<\/jats:title>\n                    <jats:p>\n                      Genetic and clinical data of\n                      <jats:italic>DSG2<\/jats:italic>\n                      and\n                      <jats:italic>DSC2<\/jats:italic>\n                      variant carriers were collected from 5 countries in Europe and Asia. We assessed the phenotypic profile of these patients and their clinical outcomes, focusing on heart failure and ventricular arrhythmia events.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>\n                      Overall, 271 subjects, 254 with\n                      <jats:italic>DSG2<\/jats:italic>\n                      variants, were included in this study (median age, 38 years [interquartile range, 25\u201352]; 62.7% male). Of these, 165 were probands, and 200 were diagnosed with definite ARVC. A total of 181 (66.8%) individuals carried missense variants, mainly distributed in the extracellular domains. Notably, we included 78 (28.8%) individuals with multiple variants. Of the 200 cases with diagnosed ARVC, 41 (20.5%) experienced premature cardiac death before the age of 65. Among the 81 individuals for whom both left ventricular ejection fraction and right ventricular fractional area change data were available at presentation, 29 (35.8%) had isolated right ventricular dysfunction, and 16 (19.8%) had biventricular dysfunction. Single-variant carriers who engaged in intense physical exercise were younger at disease onset compared with those who did not (\n                      <jats:italic>P<\/jats:italic>\n                      =0.001). Compared with single-variant carriers, those with multiple variants were more likely to be diagnosed with ARVC (96.2% versus 64.8%;\n                      <jats:italic>P<\/jats:italic>\n                      &lt;0.001) and exhibited more severe left ventricular dysfunction (44.4% versus 22.1%;\n                      <jats:italic>P<\/jats:italic>\n                      =0.001) and right ventricular dilation (88.9% versus 55.8%,\n                      <jats:italic>P<\/jats:italic>\n                      &lt;0.001). Multiple-variant carriers were significantly younger at ARVC diagnosis compared with single-variant carriers (33 [18\u201349] years versus 42 [27\u201354] years;\n                      <jats:italic>P<\/jats:italic>\n                      &lt;0.001]. During follow-up, end-stage heart failure (\n                      <jats:italic>P<\/jats:italic>\n                      &lt;0.001) and malignant ventricular arrhythmias (\n                      <jats:italic>P<\/jats:italic>\n                      =0.004) were significantly more frequent in multiple-variant compared with single-variant carriers. Compared with\n                      <jats:italic>PKP2<\/jats:italic>\n                      patients,\n                      <jats:italic>DSG2\/DSC2<\/jats:italic>\n                      patients exhibited a significantly higher risk of end-stage heart failure (\n                      <jats:italic>P<\/jats:italic>\n                      &lt;0.001).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>ARVC attributable to variants in desmosomal cadherins mostly present with right ventricular or biventricular disease. Multiple variants are common in these patients and are associated with more frequent clinical penetrance, earlier onset of disease, and adverse clinical outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circulationaha.124.072226","type":"journal-article","created":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T05:09:24Z","timestamp":1742792964000},"page":"1213-1230","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":31,"title":["Natural History and Clinical Outcomes of Patients With\n                    <i>DSG2\/DSC2<\/i>\n                    Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy"],"prefix":"10.1161","volume":"151","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6374-112X","authenticated-orcid":true,"given":"Liang","family":"Chen","sequence":"first","affiliation":[{"name":"State Key Laboratory of Cardiovascular Disease, National Clinical Research Center for Cardiovascular Diseases (L.C., Y.H., Y. Liu, A.S., Zhongli Chen, L.W., X.L., X. Zhou, S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."},{"name":"Department of Cardiac Surgery (L.C., A.S., X.L., S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."},{"name":"Center for Translational and Experimental Cardiology (CTEC), University of Zurich, Switzerland (L.C., Y.H., A.M.S., F.D.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1557-3288","authenticated-orcid":true,"given":"Yuxiao","family":"Hu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Cardiovascular Disease, National Clinical Research Center for Cardiovascular Diseases (L.C., Y.H., Y. Liu, A.S., Zhongli Chen, L.W., X.L., X. Zhou, S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."},{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, Switzerland (Y.H., A.M.S., F.G., C. Brunckhorst, F.D.)."},{"name":"Center for Translational and Experimental Cardiology (CTEC), University of Zurich, Switzerland (L.C., Y.H., A.M.S., F.D.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1896-0803","authenticated-orcid":true,"given":"Ardan M.","family":"Saguner","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, Switzerland (Y.H., A.M.S., F.G., C. Brunckhorst, F.D.)."},{"name":"Center for Translational and Experimental Cardiology (CTEC), University of Zurich, Switzerland (L.C., Y.H., A.M.S., F.D.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7357-293X","authenticated-orcid":true,"given":"Barbara","family":"Bauce","sequence":"additional","affiliation":[{"name":"Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (B.B., M.B.M., S.P., R.C., M.C., M.M., I.R., C. Basso, K.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4796-7353","authenticated-orcid":true,"given":"Yaxin","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Cardiovascular Disease, National Clinical Research Center for Cardiovascular Diseases (L.C., Y.H., Y. Liu, A.S., Zhongli Chen, L.W., X.L., X. Zhou, S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."},{"name":"Department of Cardiology, Fuwai Hospital, Chinese Academy of Medical Sciences, Shenzhen, China (Y. Liu)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anteng","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Cardiovascular Disease, National Clinical Research Center for Cardiovascular Diseases (L.C., Y.H., Y. Liu, A.S., Zhongli Chen, L.W., X.L., X. Zhou, S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."},{"name":"Department of Cardiac Surgery (L.C., A.S., X.L., S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1832-4201","authenticated-orcid":true,"given":"Fu","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, Switzerland (Y.H., A.M.S., F.G., C. Brunckhorst, F.D.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3135-2669","authenticated-orcid":true,"given":"Zhongli","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Cardiovascular Disease, National Clinical Research Center for Cardiovascular Diseases (L.C., Y.H., Y. Liu, A.S., Zhongli Chen, L.W., X.L., X. Zhou, S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."},{"name":"Cardiac Arrhythmias Center (Zhongli Chen, L.W.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9601-3671","authenticated-orcid":true,"given":"Maria","family":"Bueno Marinas","sequence":"additional","affiliation":[{"name":"Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (B.B., M.B.M., S.P., R.C., M.C., M.M., I.R., C. Basso, K.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5180-4772","authenticated-orcid":true,"given":"Lingmin","family":"Wu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Cardiovascular Disease, National Clinical Research Center for Cardiovascular Diseases (L.C., Y.H., Y. Liu, A.S., Zhongli Chen, L.W., X.L., X. Zhou, S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."},{"name":"Cardiac Arrhythmias Center (Zhongli Chen, L.W.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7586-1871","authenticated-orcid":true,"given":"Deborah","family":"Foltran","sequence":"additional","affiliation":[{"name":"Cardiology Department, Rangueil University Hospital, Toulouse, France (D.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Hermida","sequence":"additional","affiliation":[{"name":"Amiens Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France (A.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4749-1428","authenticated-orcid":true,"given":"Veronique","family":"Fressart","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle de Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, DMU Biogem, Service de Biochimie M\u00e9tabolique (V.F.)"},{"name":"AP-HP-Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re-Charles Foix, Paris, France (V.F., E.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Pinci","sequence":"additional","affiliation":[{"name":"Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (B.B., M.B.M., S.P., R.C., M.C., M.M., I.R., C. 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Basso, K.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zixian","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Radiology, The First Hospital of Lanzhou University, Lanzhou, Gansu, China (Zixian Chen)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baowei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center of Cardiology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China (B.Z., B.Y.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7625-3579","authenticated-orcid":true,"given":"Yubi","family":"Lin","sequence":"additional","affiliation":[{"name":"The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, China (Y. 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Zhou, S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."},{"name":"Department of Cardiac Surgery (L.C., A.S., X.L., S.H.), Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3051-8065","authenticated-orcid":true,"given":"Marco","family":"Cason","sequence":"additional","affiliation":[{"name":"Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (B.B., M.B.M., S.P., R.C., M.C., M.M., I.R., C. Basso, K.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0522-8408","authenticated-orcid":true,"given":"Marika","family":"Martini","sequence":"additional","affiliation":[{"name":"Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (B.B., M.B.M., S.P., R.C., M.C., M.M., I.R., C. Basso, K.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Rigato","sequence":"additional","affiliation":[{"name":"Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (B.B., M.B.M., S.P., R.C., M.C., M.M., I.R., C. Basso, K.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Brunckhorst","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center, University Hospital Zurich, Switzerland (Y.H., A.M.S., F.G., C. 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