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- Title
Effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in patients with hypertrophic cardiomyopathy.
- Authors
Chung, Hyemoon; Kim, Yoonjung; Park, Chul-Hwan; Kim, Jong-Youn; Min, Pil-Ki; Yoon, Young Won; Kim, Tae Hoon; Lee, Byoung Kwon; Hong, Bum-Kee; Rim, Se-Joong; Kwon, Hyuck Moon; Lee, Kyung-A; Choi, Eui-Young
- Abstract
Background: Myocardial fibrosis is an important prognostic factor in hypertrophic cardiomyopathy (HCM). However, the contribution from a wide spectrum of genetic mutations has not been well defined. We sought to investigate effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in HCM. Methods: In 133 HCM patients, comprehensive genetic analysis was performed in 82 nuclear DNA (33 sarcomere-associated genes, 5 phenocopy genes, and 44 nuclear genes linked to mitochondrial cardiomyopathy) and 37 mitochondrial DNA. In all patients, cardiovascular magnetic resonance (CMR) was performed, including 16-segmental thickness, late gadolinium enhancement (LGE), native and post-T1, extracellular volume fraction (ECV), and T2, along with echo-Doppler evaluations. Results: Patients with sarcomere mutation (SM, n = 41) had higher LGE involved segment, % LGE mass, ECV and lower post-T1 compared to patients without SM (n = 92, all p < 0.05). When classified into, non-mutation (n = 67), only mitochondria-related mutation (MM, n = 24), only-SM (n = 36) and both SM and MM (n = 5) groups, only-SM group had higher ECV and LGE than the non-mutation group (all p < 0.05). In non-LGE-involved segments, ECV was significantly higher in patients with SM. Within non-SM group, patients with any sarcomere variants of uncertain significance had higher echocardiographic Doppler E/e' (p < 0.05) and tendency of higher LGE amount and ECV (p > 0.05). However, MM group did not have significantly higher ECV or LGE amount than non-mutation group. Conclusions: SMs are significantly related to increase in myocardial fibrosis. Although, some HCM patients had pathogenic MMs, it was not associated with an increase in myocardial fibrosis.
- Subjects
GENETIC mutation; DNA; MUSCLES; CARDIAC hypertrophy; CARDIOMYOPATHIES; FIBROSIS; MAGNETIC resonance imaging; MITOCHONDRIA; DOPPLER echocardiography
- Publication
Journal of Cardiovascular Magnetic Resonance (BioMed Central), 2021, Vol 23, Issue 1, p1
- ISSN
1532-429X
- Publication type
Article
- DOI
10.1186/s12968-021-00718-3