{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T09:10:32Z","timestamp":1772356232322,"version":"3.50.1"},"reference-count":55,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T00:00:00Z","timestamp":1675382400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III (ISCIII)","award":["PI17\/00648"],"award-info":[{"award-number":["PI17\/00648"]}]},{"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>Heart transplantation remains the gold standard for the treatment of advanced heart failure (HF). Identification of the etiology of HF is mandatory, as the specific pathology can determine subsequent treatment. Early identification of familial hypercholesterolemia (FH), the most common genetic disorder associated with premature cardiovascular disease, has a potential important impact on clinical management and public health. We evaluated the genetic information in the genes associated with FH in a cohort of 140 heart-transplanted patients. All patients underwent NGS genetic testing including LDLR, APOB, and PCSK9. We identified four carriers of rare pathogenic variants in LDLR and APOB. Although all four identified carriers had dyslipidemia, only the one carrying the pathogenic variant LDLR c.676T&gt;C was transplanted due to CAD. Another patient with heart valvular disease was carrier of the controversial LDLR c.2096C&gt;T. Two additional patients with non-ischemic dilated cardiomyopathy were carriers of variants in APOB (c.4672A&gt;G and c.5600G&gt;A). In our cohort, we identified the genetic cause of FH in patients that otherwise would not have been diagnosed. Opportunistic genetic testing for FH provides important information to perform personalized medicine and risk stratification not only for patients but also for relatives at concealed high cardiovascular risk. Including the LDLR gene in standard NGS cardiovascular diagnostics panels should be considered.<\/jats:p>","DOI":"10.3390\/jcm12031233","type":"journal-article","created":{"date-parts":[[2023,2,6]],"date-time":"2023-02-06T01:35:13Z","timestamp":1675647313000},"page":"1233","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Opportunistic Genetic Screening for Familial Hypercholesterolemia in Heart Transplant Patients"],"prefix":"10.3390","volume":"12","author":[{"given":"Mar\u00eda","family":"Salgado","sequence":"first","affiliation":[{"name":"\u00c1rea del Coraz\u00f3n, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7773-8121","authenticated-orcid":false,"given":"Beatriz","family":"D\u00edaz-Molina","sequence":"additional","affiliation":[{"name":"\u00c1rea del Coraz\u00f3n, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"},{"name":"Unidad de Insuficiencia Cardiaca Avanzada y Trasplante, \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":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0924-0962","authenticated-orcid":false,"given":"El\u00edas","family":"Cuesta-Llavona","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33011 Oviedo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Aparicio","sequence":"additional","affiliation":[{"name":"\u00c1rea del Coraz\u00f3n, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5311-822X","authenticated-orcid":false,"given":"Mar\u00eda","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"\u00c1rea del Coraz\u00f3n, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanesa","family":"Alonso","sequence":"additional","affiliation":[{"name":"\u00c1rea del Coraz\u00f3n, Hospital Universitario Central Asturias, 33011 Oviedo, Spain"},{"name":"Unidad de Insuficiencia Cardiaca Avanzada y Trasplante, \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":[{"role":"author","vocabulary":"crossref"}]},{"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Neuhalfen","sequence":"additional","affiliation":[{"name":"Departamento de Medicina, Universidad de Oviedo, 33003 Oviedo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8649-9150","authenticated-orcid":false,"given":"Eliecer","family":"Coto","sequence":"additional","affiliation":[{"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":"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":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3318-4649","authenticated-orcid":false,"given":"Juan","family":"G\u00f3mez","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"},{"name":"CIBER-Enfermedades Respiratorias, 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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, 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