Front Cardiovasc Med. 2026 Jun 25;13:1841777. doi: 10.3389/fcvm.2026.1841777. eCollection 2026.
ABSTRACT
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant primary myocardial disease, primarily caused by pathogenic variants in genes encoding sarcomere-associated proteins. Among these, the cardiac myosin-binding protein C (MYBPC3) gene and the MYH7 gene are the two most common causative genes in patients with HCM, accounting for approximately 70% of cases with positive genetic variants. In patients with HCM, left ventricular aneurysm has been reported in fewer than 5% of cases in the absence of coronary artery disease. Variants in the KCNJ5 gene often lead to familial hyperaldosteronism type III and long QT syndrome type 13. Here, we report a rare case of HCM complicated by an apical ventricular aneurysm, accompanied by novel mutations in MYBPC3 and KCNJ5. This rare case, featuring two novel genetic variants, will help expand research on the genotype-phenotype relationship in hypertrophic cardiomyopathy.
PMID:42428486 | PMC:PMC13345877 | DOI:10.3389/fcvm.2026.1841777