{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T12:08:31Z","timestamp":1785586111272,"version":"3.56.0"},"reference-count":31,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>(1) Introduction: Dilated cardiomyopathy (DCM) mainly affects young individuals and is the main indication of heart transplantation. The variant c.77T&gt;C (p.Val26Ala) of the gene coding for emerin (EMD) in chromosome Xq28 has been catalogued as a pathogenic variant for the development of DCM, exhibiting an X-linked inheritance pattern. (2) Methods: A retrospective study was conducted covering the period 2015\u20132023 in patients with DCM of genetic origin. The primary endpoint was patient age at onset of the first composite major cardiac event, in the form of a first episode of heart failure, malignant ventricular arrhythmia, or end-stage heart failure, according to the presence of truncating variant in titin gene (TTNtv) versus the p.Val26Ala mutation in the EMD protein. (3) Results: A total of 31 and 22 patients were included in the EMD group and TTNtv group, respectively. The primary endpoint was significantly higher in the EMD group, with a hazard ratio of 4.16 (95% confidence interval: 1.83\u20139.46; p = 0.001). At 55 years of age, all the patients in the EMD group had already presented heart failure, nine presented malignant ventricular arrhythmia (29%), and 13 required heart transplantation (42%). (4) Conclusions: DCM secondary to the c.77T&gt;C (p.Val26Ala) mutation in the EMD gene is associated to an increased risk of major cardiac events compared to patients with DCM due to TTNtv, with a large proportion of transplanted patients in the fifth decade of life.<\/jats:p>","DOI":"10.3390\/jcm13030660","type":"journal-article","created":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T04:54:01Z","timestamp":1706072041000},"page":"660","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Natural History of Dilated Cardiomyopathy Due to c.77T&gt;C (p.Val26Ala) in Emerin Protein"],"prefix":"10.3390","volume":"13","author":[{"given":"N\u00e9stor","family":"B\u00e1ez-Ferrer","sequence":"first","affiliation":[{"name":"Cardiology Department, Hospital Universitario de Canarias, 38320 Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fel\u00edcitas","family":"D\u00edaz-Flores-Est\u00e9vez","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Universitario de Canarias, 38320 Tenerife, Spain"},{"name":"Department of Laboratory, Hospital Universitario de Canarias, 38320 Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"P\u00e9rez-Cejas","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Universitario de Canarias, 38320 Tenerife, Spain"},{"name":"Department of Laboratory, Hospital Universitario de Canarias, 38320 Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4958-6108","authenticated-orcid":false,"given":"Pablo","family":"Avanzas","sequence":"additional","affiliation":[{"name":"\u00c1rea del Coraz\u00f3n, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain"},{"name":"Departamento de Medicina, Universidad de Oviedo, 33003 Oviedo, Spain"},{"name":"Centro de Investigaci\u00f3n en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7803-4011","authenticated-orcid":false,"given":"Rebeca","family":"Lorca","sequence":"additional","affiliation":[{"name":"\u00c1rea del Coraz\u00f3n, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain"},{"name":"Departamento de Biolog\u00eda Funcional, \u00c1rea de Fisiolog\u00eda, Universidad de Oviedo, 33003 Oviedo, Spain"},{"name":"Unidad de Cardiopat\u00edas Familiares, \u00c1rea del Coraz\u00f3n y Departamento de Gen\u00e9tica Molecular, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"},{"name":"Redes de Investigaci\u00f3n Cooperativa Orientadas a Resultados en Salud (RICORs), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7553-1784","authenticated-orcid":false,"given":"Pedro","family":"Abreu-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Physiology Department, Faculty of Medicine, Universidad de La Laguna, 38200 Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6384-6893","authenticated-orcid":false,"given":"Alberto","family":"Dom\u00ednguez-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Universitario de Canarias, 38320 Tenerife, Spain"},{"name":"Centro de Investigaci\u00f3n en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Facultad de Ciencias de la Salud, Universidad Europea de Canarias, 38300 Tenerife, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,23]]},"reference":[{"key":"ref_1","first-page":"31","article-title":"Epidemiology and treatment of heart failure in Spain: The HF-PATHWAYS study","volume":"75","author":"Palacios","year":"2022","journal-title":"Rev. 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