20.500.12556/DiRROS-28375 Clinical outcome of hypertrophic cardiomyopathy in probands with the founder variant c.913_914del in MYBPC3 a Slovenian cohort study Hypertrophic cardiomyopathy is often caused by pathogenic MYBPC3 variants. The study of Italian patients with HCM and MYBPC3(NM_000256.3):c.913_914del showed a higher disease penetrance in males and a higher frequency of arrhythmias compared to patients with other likely pathogenic and pathogenic (LP/P) MYBPC3 variants. We investigated the clinical outcomes of Slovenian probands with MYBPC3 LP/P variants, estimated the variant penetrance and compared the results with an Italian study. We identified 31 haplotype-matched individuals with MYBPC3:c.913_914del and 34 individuals with other LP/P MYBPC3 variants. We observed some significant differences in clinical and echocardiographic characteristics and frequency of adverse cardiac events between Slovenian and Italian probands with MYBPC3:c913_914del. We were unable to replicate previous findings for MYBPC3:c.913_914del, highlighting the complexity of genotype–phenotype associations. cardiogenetics cardiology MYBPC3 hypertrophic cardiomyopathy true false true Angleški jezik Ni določen Neznano 2026-03-16 10:59:18 2026-03-16 10:59:19 2026-03-24 03:50:48 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira dne 22. 9. 2024; str. 110-120 Vol. 18 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.1:575 1937-5395 10.1007/s12265-024-10551-5 208400387 RAZ_Vodnjov_Nina_2025.pdf RAZ_Vodnjov_Nina_2025.pdf 1 BA117B2718F257B073642194846CDE1E 5d4f724293ca45bba05fec7caac609fc923ad1dbc9750139189ccf83d35686e5 fb90b87d-211e-11f1-a455-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41954 https://link.springer.com/article/10.1007/s12265-024-10551-5 1 cea845a9-211e-11f1-a455-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41953 Univerzitetni klinični center Ljubljana 0 0 0