{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T07:19:19Z","timestamp":1778743159934,"version":"3.51.4"},"reference-count":44,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005632","name":"Narodowe Centrum Bada\u0144 i Rozwoju","doi-asserted-by":"publisher","award":["ERA-CVD DETECTIN-HF\/2\/2017"],"award-info":[{"award-number":["ERA-CVD DETECTIN-HF\/2\/2017"]}],"id":[{"id":"10.13039\/501100005632","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004442","name":"Narodowym Centrum Nauki","doi-asserted-by":"publisher","award":["2011\/01\/B\/NZ4\/03455"],"award-info":[{"award-number":["2011\/01\/B\/NZ4\/03455"]}],"id":[{"id":"10.13039\/501100004442","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institute of Cardiology, Warsaw, Poland","award":["2.57\/VII\/03"],"award-info":[{"award-number":["2.57\/VII\/03"]}]},{"name":"National Institute of Cardiology, Warsaw, Poland","award":["2.18\/II\/08"],"award-info":[{"award-number":["2.18\/II\/08"]}]},{"name":"National Institute of Cardiology, Warsaw, Poland","award":["2.10\/II\/10"],"award-info":[{"award-number":["2.10\/II\/10"]}]},{"name":"National Institute of Cardiology, Warsaw, Poland","award":["2.56\/II\/14"],"award-info":[{"award-number":["2.56\/II\/14"]}]},{"DOI":"10.13039\/501100006047","name":"Komitet Bada\u0144 Naukowych","doi-asserted-by":"publisher","award":["0010\/P05B\/98\/14"],"award-info":[{"award-number":["0010\/P05B\/98\/14"]}],"id":[{"id":"10.13039\/501100006047","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Mutations in the lamin A\/C gene are variably phenotypically expressed; however, it is unclear whether circulating cardiac biomarkers are helpful in the detection and risk assessment of cardiolaminopathies. We sought to assess (1) clinical characteristics including serum biomarkers: high sensitivity troponin T (hsTnT) and N-terminal prohormone brain natriuretic peptide (NT-proBNP) in clinically stable cardiolaminopathy patients, and (2) outcome among pathogenic\/likely pathogenic lamin A\/C gene (LMNA) mutation carriers. Our single-centre cohort included 53 patients from 21 families. Clinical, laboratory, follow-up data were analysed. Median follow-up was 1522 days. The earliest abnormality, emerging in the second and third decades of life, was elevated hsTnT (in 12% and in 27% of patients, respectively), followed by the presence of atrioventricular block, heart failure, and malignant ventricular arrhythmia (MVA). In patients with missense vs. other mutations, we found no difference in MVA occurrence and, surprisingly, worse transplant-free survival. Increased levels of both hsTnT and NT-proBNP were strongly associated with MVA occurrence (HR &gt; 13, p \u2264 0.02 in both) in univariable analysis. In multivariable analysis, NT-proBNP level &gt; 150 pg\/mL was the only independent indicator of MVA. We conclude that assessment of circulating cardiac biomarkers may help in the detection and risk assessment of cardiolaminopathies.<\/jats:p>","DOI":"10.3390\/jcm9051443","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T10:53:55Z","timestamp":1589280835000},"page":"1443","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6655-0070","authenticated-orcid":false,"given":"Przemyslaw","family":"Chmielewski","sequence":"first","affiliation":[{"name":"Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1834-3848","authenticated-orcid":false,"given":"Ewa","family":"Michalak","sequence":"additional","affiliation":[{"name":"Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilona","family":"Kowalik","sequence":"additional","affiliation":[{"name":"Department of Coronary Artery Disease and Cardiac Rehabilitation, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0719-1933","authenticated-orcid":false,"given":"Maria","family":"Franaszczyk","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Department of Medical Biology, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata","family":"Sobieszczanska-Malek","sequence":"additional","affiliation":[{"name":"Department of Heart Failure and Transplantology, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9577-5145","authenticated-orcid":false,"given":"Grazyna","family":"Truszkowska","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Department of Medical Biology, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata","family":"Stepien-Wojno","sequence":"additional","affiliation":[{"name":"Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elzbieta Katarzyna","family":"Biernacka","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogna","family":"Foss-Nieradko","sequence":"additional","affiliation":[{"name":"Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Lewandowski","sequence":"additional","affiliation":[{"name":"2nd Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Artur","family":"Oreziak","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Bilinska","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariusz","family":"Kusmierczyk","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery and Transplantology, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7362-7056","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9rique","family":"Tesson","sequence":"additional","affiliation":[{"name":"Interdisciplinary School of Health Sciences, Faculty of Health Sciences, University of Ottawa, Ottawa, ON K1N 6N5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek","family":"Grzybowski","sequence":"additional","affiliation":[{"name":"Department of Cardiomyopathy, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9277-0552","authenticated-orcid":false,"given":"Tomasz","family":"Zielinski","sequence":"additional","affiliation":[{"name":"Department of Heart Failure and Transplantology, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafal","family":"Ploski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1451-2069","authenticated-orcid":false,"given":"Zofia T.","family":"Bilinska","sequence":"additional","affiliation":[{"name":"Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,12]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., and Amemiya, A. 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Sensors, 19.","DOI":"10.3390\/s19225003"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/5\/1443\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:28:08Z","timestamp":1760174888000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/5\/1443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,12]]},"references-count":44,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2020,5]]}},"alternative-id":["jcm9051443"],"URL":"https:\/\/doi.org\/10.3390\/jcm9051443","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,12]]}}}