Vodnjov Nina, Maver Aleš, Teran Nataša, Peterlin Borut, Toplišek Janez, Writzl Karin
University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia.
Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia.
J Cardiovasc Transl Res. 2025 Feb;18(1):110-120. doi: 10.1007/s12265-024-10551-5. Epub 2024 Aug 19.
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.
肥厚型心肌病通常由致病性MYBPC3变异引起。对患有肥厚型心肌病且携带MYBPC3（NM_000256.3）：c.913_914del的意大利患者的研究表明，与其他可能致病和致病（LP/P）的MYBPC3变异患者相比，男性的疾病外显率更高，心律失常的发生率也更高。我们调查了携带MYBPC3 LP/P变异的斯洛文尼亚先证者的临床结局，估计了变异外显率，并将结果与一项意大利研究进行了比较。我们确定了31名携带MYBPC3：c.913_914del的单倍型匹配个体和34名携带其他LP/P MYBPC3变异的个体。我们观察到，携带MYBPC3：c913_914del的斯洛文尼亚和意大利先证者在临床和超声心动图特征以及不良心脏事件发生率方面存在一些显著差异。我们无法重复之前关于MYBPC3：c.913_914del的研究结果，这突出了基因型-表型关联的复杂性。
