{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T04:54:42Z","timestamp":1781931282769,"version":"3.54.5"},"reference-count":45,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T00:00:00Z","timestamp":1702944000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III (ISCIII)","award":["PI22\/00705"],"award-info":[{"award-number":["PI22\/00705"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Introduction: Basal cardiovascular risk assessment in cardio-oncology is essential. Integrating clinical information, ECG and transthoracic echocardiogram can identify concealed inherited cardiomyopathies (ICMPs) with potential added risk of cardiotoxicity. We aimed to evaluate the impact of our Cardio-Oncology Unit design in detecting concealed ICMPs. Methods: We carried out a retrospective study of all consecutive breast cancer patients referred to the Cardio-Oncology Unit for cardiac evaluation (2020\u20132022). ICMPs diagnosis was provided according to ESC guidelines and underwent genetic testing. ICMPs prevalence in this cohort was compared to the highest and lowest frequency reported in the general population. Results: Among 591 breast cancer patients, we identified eight patients with ICMPs: one arrhythmogenic cardiomyopathy (ACM), three familial non-ischemic dilated cardiomyopathy (DCM), three hypertrophic cardiomyopathy (HCM) and one left ventricular non-compaction cardiomyopathy (LVNC), which has now been reclassified as non-dilated left ventricular cardiomyopathy. The number of ICMPs identified was within the expected range (neither overdiagnosed nor overlooked): ACM 0.0017 vs. 0.0002\u20130.001 (p 0.01\u20130.593); DCM 0.0051 vs. 0.002\u20130.0051 (p 0.094\u20130.676); HCM 0.005 vs. 0.0002\u20130.002 (p &lt; 0.001\u20130.099); LVCN 0.0017 vs. 0.00014\u20130.013 (p 0.011\u20130.015). Genetic testing identified a pathogenic FLNC variant and two pathogenic TTN variants. Conclusion: Opportunistic screening of ICMPs during basal cardiovascular risk assessment can identify high-risk cancer patients who benefit from personalized medicine and enables extension of prevention strategies to all available relatives at concealed high cardiovascular risk.<\/jats:p>","DOI":"10.3390\/jcm13010002","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T04:18:37Z","timestamp":1702959517000},"page":"2","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7803-4011","authenticated-orcid":false,"given":"Rebeca","family":"Lorca","sequence":"first","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\/0000-0001-5433-1364","authenticated-orcid":false,"given":"Isaac","family":"Pascual","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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5311-822X","authenticated-orcid":false,"given":"Maria","family":"Fernandez","sequence":"additional","affiliation":[{"name":"\u00c1rea del Coraz\u00f3n, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2837-7374","authenticated-orcid":false,"given":"Rut","family":"Alvarez-Velasco","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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santiago","family":"Colunga","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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Mu\u00f1iz","sequence":"additional","affiliation":[{"name":"Oncolog\u00eda M\u00e9dica, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Izquierdo","sequence":"additional","affiliation":[{"name":"Oncolog\u00eda M\u00e9dica, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolanda","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Oncolog\u00eda M\u00e9dica, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilio","family":"Esteban","sequence":"additional","affiliation":[{"name":"Departamento de Medicina, Universidad de Oviedo, 33003 Oviedo, Spain"},{"name":"Oncolog\u00eda M\u00e9dica, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3318-4649","authenticated-orcid":false,"given":"Juan","family":"Gomez","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias (ISPA), 33011 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\/0000-0002-4958-6108","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\/0000-0002-3414-7022","authenticated-orcid":false,"given":"Teresa","family":"Lopez-Fernandez","sequence":"additional","affiliation":[{"name":"Cardiolog\u00eda, Hospital Universitario la Paz, IdiPAZ Research Institute, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/j.mayocp.2014.05.013","article-title":"Evaluation and management of patients with heart disease and cancer: 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