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

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

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.

• Jezik: Angleški jezik
• Ključne besede: cardiogenetics, cardiology, MYBPC3, hypertrophic cardiomyopathy, HCM, C.913_914del, MYBPC3: c.913_914del
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: BF - Biotehniška fakulteta ; MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2025
• Št. strani: Str. 110–120
• Številčenje: Vol. 18, iss. 1
• PID: 20.500.12556/RUL-167732
• UDK: 578
• ISSN pri članku: 1937-5395
• DOI: 10.1007/s12265-024-10551-5
• COBISS.SI-ID: 208400387
• Datum objave v RUL: 10.03.2025

Gradivo je del revije

• Naslov: Journal of cardiovascular translational research
• Skrajšan naslov: J. cardiovasc. transl. res.
• Založnik: Springer Nature, International Society of Cardiovascular Translational Research
• ISSN: 1937-5395
• COBISS.SI-ID: 519133721

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Projekti

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: P3-0326
• Naslov: Ginekologija in reprodukcija: genomika za personalizirano medicino