SARC Gene Mutation Is Associated With Myocardial Fibrosis Measured by Histopathology and Cardiac Magnetic Resonance in Patients With Hypertrophic Cardiomyopathy

Background Sarcomere gene mutation and myocardial fibrosis are both associated with poorer clinical outcomes in patients with hypertrophic cardiomyopathy (HCM). The aim of this study was to determine the relationship between sarcomere gene mutation and myocardial fibrosis measured by both histopatho...

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Published in:Journal of the American Heart Association 2023-03, Vol.12 (5), p.e028293-e028293
Main Authors: Huang, Manyun, Zhang, Jian, Song, Changpeng, Wang, Shuiyun, Zhou, Zhou, Wang, Hongyue, Zhao, Shihua, Yin, Kunlun, Li, Li, Yang, Shujuan, Zheng, Xinxin, Lu, Jie, Huang, Xiaohong
Format: Article
Language:English
Subjects:
Adult
Cardiomyopathy, Hypertrophic - complications
Cardiomyopathy, Hypertrophic - diagnostic imaging
Cardiomyopathy, Hypertrophic - genetics
Contrast Media
Female
Fibrosis
Gadolinium
histopathology
Humans
hypertrophic cardiomyopathy
magnetic resonance imaging
Magnetic Resonance Spectroscopy
Male
Mutation
myocardial fibrosis
Original Research
Retrospective Studies
sarcomere gene mutation
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Summary:Background Sarcomere gene mutation and myocardial fibrosis are both associated with poorer clinical outcomes in patients with hypertrophic cardiomyopathy (HCM). The aim of this study was to determine the relationship between sarcomere gene mutation and myocardial fibrosis measured by both histopathology and cardiac magnetic resonance (CMR). Methods and Results Two hundred twenty-seven patients with HCM who underwent surgical treatment, genetic testing, and CMR were enrolled. We retrospectively analyzed basic characteristics, sarcomere gene mutation, and myocardial fibrosis measured by CMR and histopathology. In our study, the mean age was 43 years, and 152 patients (67.0%) were men. A total of 107 patients (47.1%) carried a positive sarcomere gene mutation. The myocardial fibrosis ratio was significantly higher in the late gadolinium enhancement (LGE)+ group (LGE+ 14.3±7.5% versus LGE- 9.0±4.3%; =0.001). Patients with HCM with SARC+ showed a high probability of fibrosis both in histopathology (myocardial fibrosis ratio 15.3±8.0% versus 12.4±6.5%; =0.003) and CMR examination (LGE+ 98.1% versus 84.2%;
ISSN:2047-9980
2047-9980
DOI:10.1161/JAHA.122.028293