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Effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in patients with hypertrophic cardiomyopathy

Authors
 Hyemoon Chung  ;  Yoonjung Kim  ;  Chul-Hwan Park  ;  Jong-Youn Kim  ;  Pil-Ki Min  ;  Young Won Yoon  ;  Tae Hoon Kim  ;  Byoung Kwon Lee  ;  Bum-Kee Hong  ;  Se-Joong Rim  ;  Hyuck Moon Kwon  ;  Kyung-A Lee  ;  Eui-Young Choi 
Citation
 JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE, Vol.23(1) : 18, 2021-03 
Journal Title
 JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE 
ISSN
 1097-6647 
Issue Date
2021-03
Keywords
Hypertrophic cardiomyopathy ; Mitochondria ; Myocardial fibrosis ; Sarcomere gene mutation
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.
Files in This Item:
T202100779.pdf Download
DOI
10.1186/s12968-021-00718-3
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Hyuck Moon(권혁문) ORCID logo https://orcid.org/0000-0001-9901-5015
Kim, Yoon Jung(김윤정) ORCID logo https://orcid.org/0000-0002-4370-4265
Kim, Jong Youn(김종윤) ORCID logo https://orcid.org/0000-0001-7040-8771
Kim, Tae Hoon(김태훈) ORCID logo https://orcid.org/0000-0003-3598-2529
Min, Pil Ki(민필기) ORCID logo https://orcid.org/0000-0001-7033-7651
Park, Chul Hwan(박철환) ORCID logo https://orcid.org/0000-0002-0004-9475
Yoon, Young Won(윤영원) ORCID logo https://orcid.org/0000-0002-0907-0350
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Byoung Kwon(이병권) ORCID logo https://orcid.org/0000-0001-9259-2776
Rim, Se Joong(임세중) ORCID logo https://orcid.org/0000-0002-7631-5581
Choi, Eui Young(최의영) ORCID logo https://orcid.org/0000-0003-3732-0190
Hong, Bum Kee(홍범기) ORCID logo https://orcid.org/0000-0002-6456-0184
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/182233
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