{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T06:05:32Z","timestamp":1775109932901,"version":"3.50.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T00:00:00Z","timestamp":1612224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T00:00:00Z","timestamp":1612224000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neth Heart J"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by truncating variants in the <jats:italic>MYBPC3<\/jats:italic> gene. HCM is an important cause of sudden cardiac death; however, overall prognosis is good and penetrance in genotype-positive individuals is incomplete. The underlying mechanisms are poorly understood and risk stratification remains limited.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Aim<\/jats:title>\n                <jats:p>To create a\u00a0nationwide cohort of carriers of truncating <jats:italic>MYBPC3<\/jats:italic> variants for identification of predictive biomarkers for HCM development and progression.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In the multicentre, observational BIO FOr CARe (Identification of BIOmarkers of hypertrophic cardiomyopathy development and progression in Dutch <jats:italic>MYBPC3<\/jats:italic> FOunder variant CARriers) cohort, carriers of the c.2373dupG, c.2827C\u202f&gt;\u202fT, c.2864_2865delCT and c.3776delA <jats:italic>MYBPC3<\/jats:italic> variants are included and prospectively undergo longitudinal blood collection. Clinical data are collected from first presentation onwards. The primary outcome constitutes a\u00a0composite endpoint of HCM progression (maximum wall thickness \u2265\u202f20\u202fmm, septal reduction therapy, heart failure occurrence, sustained ventricular arrhythmia and sudden cardiac death).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>So far, 250 subjects (median age 54.9\u00a0years (interquartile range 43.3, 66.6), 54.8% male) have been included. HCM was diagnosed in 169 subjects and dilated cardiomyopathy in\u00a04. The primary outcome was met in 115 subjects. Blood samples were collected from 131 subjects.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>BIO FOr CARe is a\u00a0genetically homogeneous, phenotypically heterogeneous cohort incorporating a\u00a0clinical data registry and longitudinal blood collection. This provides a\u00a0unique opportunity to study biomarkers for HCM development and prognosis. The established infrastructure can be extended to study other genetic variants. Other centres are invited to join our consortium.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12471-021-01539-w","type":"journal-article","created":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T19:19:44Z","timestamp":1612293584000},"page":"318-329","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants\u2014design and status"],"prefix":"10.1007","volume":"29","author":[{"given":"M.","family":"Jansen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Christiaans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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