Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy
Abstract Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-01-01
|
| Series: | Scientific Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1038/s41598-025-85201-0 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832571777794965504 |
|---|---|
| author | Minjeong Kim Yoonjung Kim Hyemoon Chung Jiwon Seo Chul Hwan Park Tae Hoon Kim Se-Joong Rim Kyung-A Lee Eui-Young Choi |
| author_facet | Minjeong Kim Yoonjung Kim Hyemoon Chung Jiwon Seo Chul Hwan Park Tae Hoon Kim Se-Joong Rim Kyung-A Lee Eui-Young Choi |
| author_sort | Minjeong Kim |
| collection | DOAJ |
| description | Abstract Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM. A total of 133 patients with HCM underwent chamber geometry, late gadolinium enhancement (LGE), and T1-mapping evaluation using 1.5T cardiac magnetic resonance (CMR) imaging, echo-derived diastolic function analyses, and genetic testing. Left ventricular (LV) segmental and global longitudinal strain (LS), circumferential strain (CS), and rotation were measured using feature tracking analysis. Patients with sarcomere-associated mutation (SM, n = 41) exhibited lower LV-CS (all three slices) and higher basal rotationendo, along with a higher prevalence of midepicardial LGE. The relationship between SM and LV-CSmyo was independent of LGE amount (ß = 0.239, p = 0.008). However, global LS and E/e’ were not correlated with SM but were associated with LV mass index and LGE extent. SM was significantly correlated with the presence of midepicardial LGE (odds ratio 5.81, 95% confidence interval 2.15–15.72, p = 0.001), independent of LV mass index, hypertrophy pattern and E/e’. Augmented LV basal segmental rotation was significantly associated with dynamic obstruction. Circumferential fiber dysfunction and midepicardial fibrosis were related to SM, independent of the extent of LV hypertrophy. However, longitudinal fiber function was correlated to the extent of hypertrophy and fibrosis, regardless of SM. Subendocardial fibrosis did not show a significant association with SM. |
| format | Article |
| id | doaj-art-2eb60adea4534d66999d2e40201dbdc9 |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj-art-2eb60adea4534d66999d2e40201dbdc92025-02-02T12:18:57ZengNature PortfolioScientific Reports2045-23222025-01-011511910.1038/s41598-025-85201-0Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathyMinjeong Kim0Yoonjung Kim1Hyemoon Chung2Jiwon Seo3Chul Hwan Park4Tae Hoon Kim5Se-Joong Rim6Kyung-A Lee7Eui-Young Choi8Division of Cardiology, Ewha Woman’s University Mokdong HospitalDepartment of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of MedicineDivision of Cardiology, Kyung Hee University Hospital, Kyung Hee UniversityDivision of Cardiology, Gangnam Severance Hospital, Yonsei University College of MedicineDepartment of Radiology, Gangnam Severance Hospital, Yonsei University College of MedicineDepartment of Radiology, Gangnam Severance Hospital, Yonsei University College of MedicineDivision of Cardiology, Gangnam Severance Hospital, Yonsei University College of MedicineDepartment of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of MedicineDivision of Cardiology, Gangnam Severance Hospital, Yonsei University College of MedicineAbstract Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM. A total of 133 patients with HCM underwent chamber geometry, late gadolinium enhancement (LGE), and T1-mapping evaluation using 1.5T cardiac magnetic resonance (CMR) imaging, echo-derived diastolic function analyses, and genetic testing. Left ventricular (LV) segmental and global longitudinal strain (LS), circumferential strain (CS), and rotation were measured using feature tracking analysis. Patients with sarcomere-associated mutation (SM, n = 41) exhibited lower LV-CS (all three slices) and higher basal rotationendo, along with a higher prevalence of midepicardial LGE. The relationship between SM and LV-CSmyo was independent of LGE amount (ß = 0.239, p = 0.008). However, global LS and E/e’ were not correlated with SM but were associated with LV mass index and LGE extent. SM was significantly correlated with the presence of midepicardial LGE (odds ratio 5.81, 95% confidence interval 2.15–15.72, p = 0.001), independent of LV mass index, hypertrophy pattern and E/e’. Augmented LV basal segmental rotation was significantly associated with dynamic obstruction. Circumferential fiber dysfunction and midepicardial fibrosis were related to SM, independent of the extent of LV hypertrophy. However, longitudinal fiber function was correlated to the extent of hypertrophy and fibrosis, regardless of SM. Subendocardial fibrosis did not show a significant association with SM.https://doi.org/10.1038/s41598-025-85201-0Hypertrophic cardiomyopathyGeneticsMyofiberFibrosis |
| spellingShingle | Minjeong Kim Yoonjung Kim Hyemoon Chung Jiwon Seo Chul Hwan Park Tae Hoon Kim Se-Joong Rim Kyung-A Lee Eui-Young Choi Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy Scientific Reports Hypertrophic cardiomyopathy Genetics Myofiber Fibrosis |
| title | Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy |
| title_full | Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy |
| title_fullStr | Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy |
| title_full_unstemmed | Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy |
| title_short | Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy |
| title_sort | effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy |
| topic | Hypertrophic cardiomyopathy Genetics Myofiber Fibrosis |
| url | https://doi.org/10.1038/s41598-025-85201-0 |
| work_keys_str_mv | AT minjeongkim effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy AT yoonjungkim effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy AT hyemoonchung effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy AT jiwonseo effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy AT chulhwanpark effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy AT taehoonkim effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy AT sejoongrim effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy AT kyungalee effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy AT euiyoungchoi effectsofgeneticmutationsonleftventricularmyocardialmechanicsandfibrosispatternsinhypertrophiccardiomyopathy |