{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T16:49:44Z","timestamp":1740156584805,"version":"3.37.3"},"reference-count":36,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,4,24]],"date-time":"2019-04-24T00:00:00Z","timestamp":1556064000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["PTDC\/BIM-MEC\/0650\/2012"],"award-info":[{"award-number":["PTDC\/BIM-MEC\/0650\/2012"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology Research and Practice"],"published-print":{"date-parts":[[2019,4,24]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Sudden cardiac death (SCD) risk stratification in dilated cardiomyopathy (DCM) has been based on left ventricular ejection fraction (LVEF), even though SCD may occur with LVEF\u2009&gt;\u200935%. Family history of unexplained SCD, especially in the young, raises concern about potential inheritable risk factors. It remains largely unknown how genetic tests can be integrated into clinical practice, particularly in the selection of implantable cardioverter defibrillator (ICD) candidates. We aimed to assess the diagnostic yield of genetic testing in DCM patients with a class I recommendation for ICD implantation, based on current guidelines. <jats:italic>Methods<\/jats:italic>. We included ambulatory stable adult patients with idiopathic or familial DCM with previously implanted ICD. Molecular analysis included 15 genes (<jats:italic>LMNA<\/jats:italic>, <jats:italic>MYH7<\/jats:italic>, <jats:italic>MYBPC3<\/jats:italic>, <jats:italic>TNNT2<\/jats:italic>, <jats:italic>ACTC1<\/jats:italic>, <jats:italic>TPM1<\/jats:italic>, <jats:italic>CSRP3<\/jats:italic>, <jats:italic>TCAP<\/jats:italic>, <jats:italic>SGCD<\/jats:italic>, <jats:italic>PLN<\/jats:italic>, <jats:italic>MYL2<\/jats:italic>, <jats:italic>MYL3<\/jats:italic>, <jats:italic>TNNI3<\/jats:italic>, <jats:italic>TAZ<\/jats:italic>, and <jats:italic>LDB3<\/jats:italic>) using next-generation sequencing. <jats:italic>Results<\/jats:italic>. We evaluated 21 patients, 12 (57%) males and 9 (43%) with familial DCM, including 3 (14%) with a family history of premature unexplained SCD. Mean age at DCM diagnosis was 40\u2009\u00b1\u20092\u2009years, and mean age at ICD implantation was 50\u2009\u00b1\u200912\u2009years. LVEF was 27\u2009\u00b1\u20099%, and LV end-diastolic diameter was 65\u2009\u00b1\u20097\u2009mm. Genetic variants were found in six (29%) patients, occurring in 5 genes: <jats:italic>TPM1<\/jats:italic>, <jats:italic>TNNT2<\/jats:italic>, <jats:italic>MYH7<\/jats:italic>, <jats:italic>PLN<\/jats:italic>, and <jats:italic>MYBPC3<\/jats:italic>. The majority were classified as variants of uncertain significance. Family history of SCD was present in both patients with <jats:italic>PLN<\/jats:italic> variants. <jats:italic>Conclusion<\/jats:italic>. In patients with DCM and ICD, genetic variants could be identified in a significant proportion of patients in several genes, highlighting the potential role of genetics in DCM SCD risk stratification.<\/jats:p>","DOI":"10.1155\/2019\/2743650","type":"journal-article","created":{"date-parts":[[2019,4,24]],"date-time":"2019-04-24T19:31:12Z","timestamp":1556134272000},"page":"1-9","source":"Crossref","is-referenced-by-count":3,"title":["Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?"],"prefix":"10.1155","volume":"2019","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2323-9191","authenticated-orcid":true,"given":"Alexandra","family":"Sousa","sequence":"first","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"},{"name":"Cintesis-Center for Research in Health Technologies and Services, Rua Dr. Pl\u00e1cido da Costa, 4200-450 Porto, Portugal"},{"name":"Department of Cardiology, Santa Maria Maior Hospital, Campo da Rep\u00fablica, Apartado 181, 4754-909 Barcelos, Portugal"}]},{"given":"Paulo","family":"Canedo","sequence":"additional","affiliation":[{"name":"i3S\u2010Institute for Research and Innovation in Health, Rua Alfredo Allen, 4200-135 Porto, Portugal"}]},{"given":"Manuel","family":"Campelo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"},{"name":"Cintesis-Center for Research in Health Technologies and Services, Rua Dr. Pl\u00e1cido da Costa, 4200-450 Porto, Portugal"},{"name":"Department of Cardiology, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, E.P.E., Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]},{"given":"Brenda","family":"Moura","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Hospital das For\u00e7as Armadas - P\u00f3lo Porto, Av. Da Boavista, 4050-113 Porto, Portugal"}]},{"given":"S\u00e9rgio","family":"Leite","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Alto Ave Hospital Center\u2013Guimar\u00e3es Unity, Rua dos Cutileiros 114, Creixomil, 4835-044 Guimar\u00e3es, Portugal"}]},{"given":"M\u00e1rcia","family":"Baixia","sequence":"additional","affiliation":[{"name":"i3S\u2010Institute for Research and Innovation in Health, Rua Alfredo Allen, 4200-135 Porto, Portugal"}]},{"given":"Adriana","family":"Belo","sequence":"additional","affiliation":[{"name":"National Center for Data Collection in Cardiology, Rua de Oliven\u00e7a n\u00b0 11, 7\u00b0 Piso, Sala 701, 3000-306 Coimbra, Portugal"}]},{"given":"Francisco","family":"Rocha-Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"},{"name":"i3S\u2010Institute for Research and Innovation in Health, Rua Alfredo Allen, 4200-135 Porto, Portugal"}]},{"given":"Jos\u00e9 Carlos","family":"Machado","sequence":"additional","affiliation":[{"name":"i3S\u2010Institute for Research and Innovation in Health, Rua Alfredo Allen, 4200-135 Porto, Portugal"}]},{"given":"Jos\u00e9","family":"Silva-Cardoso","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"},{"name":"Cintesis-Center for Research in Health Technologies and Services, Rua Dr. Pl\u00e1cido da Costa, 4200-450 Porto, Portugal"},{"name":"Department of Cardiology, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, E.P.E., Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6944-2953","authenticated-orcid":true,"given":"Elisabete","family":"Martins","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, 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