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

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 C... Mehr ...

Verfasser: Jansen, M
Christiaans, I
van der Crabben, S N
Michels, M
Huurman, R
Hoedemaekers, Y M
Dooijes, D
Jongbloed, J D H
Boven, L G
Lekanne Deprez, R H
Wilde, A A M
Jans, J J M
van der Velden, J
de Boer, R A
van Tintelen, J P
Asselbergs, F W
Baas, A F
Dokumenttyp: Artikel
Erscheinungsdatum: 2021
Schlagwörter: Biomarkers / Hypertrophic cardiomyopathy / MYBPC3 / Prognosis / Cardiology and Cardiovascular Medicine / Journal Article
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27457689
Datenquelle: BASE; Originalkatalog
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Link(s) : https://dspace.library.uu.nl/handle/1874/442240