BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status

M. Jansen*, I. Christiaans, S. N. van der Crabben, M. Michels, R. Huurman, Y. M. Hoedemaekers, D. Dooijes, J. D.H. Jongbloed, L. G. Boven, R. H. Lekanne Deprez, A. A.M. Wilde, J. J.M. Jans, J. van der Velden, R. A. de Boer, J. P. van Tintelen, F. W. Asselbergs, A. F. Baas

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)
14 Downloads (Pure)


Background: Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by truncating variants in the MYBPC3 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. Aim: To create a nationwide cohort of carriers of truncating MYBPC3 variants for identification of predictive biomarkers for HCM development and progression. Methods: In the multicentre, observational BIO FOr CARe (Identification of BIOmarkers of hypertrophic cardiomyopathy development and progression in Dutch MYBPC3 FOunder variant CARriers) cohort, carriers of the c.2373dupG, c.2827C > T, c.2864_2865delCT and c.3776delA MYBPC3 variants are included and prospectively undergo longitudinal blood collection. Clinical data are collected from first presentation onwards. The primary outcome constitutes a composite endpoint of HCM progression (maximum wall thickness ≥ 20 mm, septal reduction therapy, heart failure occurrence, sustained ventricular arrhythmia and sudden cardiac death). Results: So far, 250 subjects (median age 54.9 years (interquartile range 43.3, 66.6), 54.8% male) have been included. HCM was diagnosed in 169 subjects and dilated cardiomyopathy in 4. The primary outcome was met in 115 subjects. Blood samples were collected from 131 subjects. Conclusion: BIO FOr CARe is a genetically homogeneous, phenotypically heterogeneous cohort incorporating a clinical data registry and longitudinal blood collection. This provides a unique 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.

Original languageEnglish
Pages (from-to)318-329
Number of pages12
JournalNetherlands Heart Journal
Issue number6
Publication statusPublished - 2 Feb 2021

Bibliographical note

Funding Information:
This work was supported by the Netherlands Cardiovascular Research Initiative: an initiative with the support of the Dutch Heart Foundation (CVON2014-40 DOSIS to F.W.A., J.P.v.T., J.v.d.V, M.M. and R.A.d.B.; CVON2015-12 e‑Detect to F.W.A, J.P.v.T.; CVON2018-30 PREDICT2 to A.A.M.W., J.P.v.T. and R.A.d.B); the Dutch Heart Foundation (Dekker 2015T041 to A.F.B. and M.J.); the Netherlands Organization for Sciences (NWO)-ZonMW (VICI 91818602 to J.v.d.V.); ZonMW and the Dutch Heart Foundation for the translational research program ENERY trial, project 95105003 (to J.v.d.V and M.M.); UCL Hospitals NIHR Biomedical Research Centre (to F.W.A.).

Publisher Copyright: © 2021, The Author(s).


Dive into the research topics of 'BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status'. Together they form a unique fingerprint.

Cite this