Genetic mutations significantly affect myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy (HCM).
This study investigates how genetic mutations impact myofiber function and patterns of fibrosis in patients diagnosed with hypertrophic cardiomyopathy (HCM). Specifically, it examines the relationship between sarcomere-associated mutations and left ventricular mechanics, fibrosis patterns, and diastolic function.
The study involved researchers from Yonsei University College of Medicine, with contributions from multiple authors including MK, YK, and EYC, among others.
The study was published in 2025. It enrolled patients over several years prior to its publication.
The research was conducted at Gangnam Severance Hospital, affiliated with Yonsei University.
Understanding the impact of genetic mutations on the mechanical function of the heart and fibrosis patterns is important for improving the risk stratification and management of patients with HCM.
The study utilized cardiac magnetic resonance imaging (CMR), genetic testing, and echocardiographic analysis to assess myocardial function and fibrosis.
The study included 133 HCM patients who underwent detailed imaging evaluations and had their genetic profiles analyzed for sarcomere mutations.
Circumferential myocardial function was significantly reduced in patients with SM, independent of the extent of fibrosis and hypertrophy.
The midepicardial LGE pattern was significantly and independently correlated with SM.
Introduction: Introduce hypertrophic cardiomyopathy (HCM) and the significance of genetic mutations, highlighting the role of sarcomere mutations (SM) and their impact on left ventricular function.
Background: Discuss previous findings related to HCM, the importance of myocyte disarray, and the relevance of cardiac fibrosis patterns. Explain the genetic aspect related to sarcomere mutations and their link to HCM pathophysiology.
Methodology and Discovery: Describe the study design, including the CMR imaging techniques, echocardiographic analysis, and genetic testing processes. Explain how these methods were used to evaluate myocardial mechanics and fibrosis patterns.
Findings and Implications: Present the key findings, including how SM is linked to impaired circumferential strain and increased prevalence of midepicardial fibrosis, impacting heart function significantly. Highlight the clinical relevance of these findings for patient management and risk assessment. Incorporate relevant quotes to support these findings.
Conclusion: Summarize the study's main findings and suggest future research directions. Highlight the potential impact of these findings on clinical practices for managing HCM patients with genetic mutations.