Clinical outcome of hypertrophic cardiomyopathy in probands with the founder variant c.913_914del in in MYBPC3 : a Slovenian cohort study

Vodnjov, Nina (author), Maver, Aleš (author), Teran, Nataša (author), Peterlin, Borut (author), Toplišek, Janez (author), Writzl, Karin (author)

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.

• Language: English
• Keywords: cardiogenetics, cardiology, MYBPC3, hypertrophic cardiomyopathy, HCM, C.913_914del, MYBPC3: c.913_914del
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: BF - Biotechnical Faculty; MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2025
• Number of pages: Str. 110–120
• Numbering: Vol. 18, iss. 1
• PID: 20.500.12556/RUL-167732
• UDC: 578
• ISSN on article: 1937-5395
• DOI: 10.1007/s12265-024-10551-5
• COBISS.SI-ID: 208400387
• Publication date in RUL: 10.03.2025

Record is a part of a journal

• Title: Journal of cardiovascular translational research
• Shortened title: J. cardiovasc. transl. res.
• Publisher: Springer Nature, International Society of Cardiovascular Translational Research
• ISSN: 1937-5395
• COBISS.SI-ID: 519133721

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Projects

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P3-0326
• Name: Ginekologija in reprodukcija: genomika za personalizirano medicino