{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T03:43:16Z","timestamp":1771472596256,"version":"3.50.1"},"reference-count":50,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,12,22]],"date-time":"2021-12-22T00:00:00Z","timestamp":1640131200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005632","name":"National Centre for Research and Development","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":"National Science Centre, Poland","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":["2.56\/II\/14"],"award-info":[{"award-number":["2.56\/II\/14"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early indicators of cardiotitinopathy including the serum biomarkers high-sensitivity cardiac troponin T (hs-cTnT) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) in clinically stable patients, and 2) predictors of outcome among TTNtv carriers. Our single-center cohort consisted of 108 TTNtv carriers (including 70 DCM patients) from 43 families. Clinical, laboratory and follow-up data were analyzed. The earliest abnormality was left ventricular dysfunction, present in 8, 26 and 47% of patients in the second, third and fourth decade of life, respectively. It was followed by symptoms of heart failure, linked to NT-proBNP elevation and severe left ventricular systolic dysfunction, and later by arrhythmias. Hs-cTnT serum levels were increased in the late stage of the disease only. During the median follow-up of 5.2 years, both malignant ventricular arrhythmia (MVA) and end-stage heart failure (esHF) occurred in 12% of TTNtv carriers. In multivariable analysis, NT-proBNP level \u2265650 pg\/mL was the best predictor of both composite endpoints (MVA and esHF) and of MVA alone. In conclusion, echocardiographic abnormalities are the first detectable anomalies in the course of cardiotitinopathies. The assessment of circulating cardiac biomarkers is not useful in the detection of the disease onset but may be helpful in risk assessment.<\/jats:p>","DOI":"10.3390\/diagnostics12010013","type":"journal-article","created":{"date-parts":[[2021,12,22]],"date-time":"2021-12-22T10:24:52Z","timestamp":1640168692000},"page":"13","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6655-0070","authenticated-orcid":false,"given":"Przemys\u0142aw","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\/0000-0002-9577-5145","authenticated-orcid":false,"given":"Gra\u017cyna","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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8040-5109","authenticated-orcid":false,"given":"Ilona","family":"Kowalik","sequence":"additional","affiliation":[{"name":"Clinical Research Support Center, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6969-0535","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Rydzanicz","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\/0000-0003-1834-3848","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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6977-4173","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Sobieszcza\u0144ska-Ma\u0142ek","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\/0000-0002-0719-1933","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":"Piotr","family":"Stawi\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"St\u0119pie\u0144-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":"Artur","family":"Or\u0119ziak","sequence":"additional","affiliation":[{"name":"Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha\u0142","family":"Lewandowski","sequence":"additional","affiliation":[{"name":"Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Przemys\u0142aw","family":"Leszek","sequence":"additional","affiliation":[{"name":"Department of Heart Failure and Transplantology, National Institute of Cardiology, 04-628 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Bili\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Arrhythmia, 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":"Zieli\u0144ski","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":"Rafa\u0142","family":"P\u0142oski","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":"Bili\u0144ska","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":[[2021,12,22]]},"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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