Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy

Cardiovascular Ultrasound - 2021
Hyemoon Chung1, Yoonjung Kim2, Chul Hwan Park3, In Soo Kim4, Jong Youn Kim4, Pil‐Ki Min4, Young Won Yoon4, Tae Hoon Kim4, Byoung Kwon Lee4, Bum‐Kee Hong4, Se Joong Rim4, Hyuck Moon Kwon4, Kyung A. Lee2, Eui‐Young Choi4
1Department of Internal Medicine, Division of Cardiology, Kyung Hee University School of Medicine, Seoul, South Korea
2Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-Ro, Gangnam-Gu, Seoul, 06273, Republic of Korea
3Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea
4Division of Cardiology, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-Ro, Gangnam-Gu, Seoul, 06273, Republic of Korea

Tóm tắt

Abstract Background Left atrial (LA) enlargement and dysfunction are related to clinical course in patients with hypertrophic cardiomyopathy (HCM). We aimed to investigate genetic contribution to LA structural and functional remodeling. Methods Two hundred twelve patients were consecutively enrolled, and echocardiography and extensive genetic analysis were performed. Cardiac magnetic resonance (CMR) was performed in 135 patients. Echocardiography was also performed in controls (n = 30). Results Patients with HCM had lower late-diastolic mitral annular velocity (a’) and higher LA volume index (LAVI) than controls. Patients with pathogenic or likely pathogenic sarcomere gene mutations (PSM, n = 67, 32%) had higher LAVI and lower CMR-derived LA total emptying fraction (37.0 ± 18.5 vs. 44.2 ± 12.4%, p = 0.025). In patients without AF (n = 187), the PSM had lower a’ (6.9 ± 2.0 vs. 7.8 ± 1.9 cm/s, p = 0.004) than others. The PSM had higher prevalence and amount of late gadolinium enhancement (LGE) in the left ventricle (LV). In multivariate analysis, PSM was significantly related to lower a’ independent of E/e’, LV mass index, and LAVI. However, the relation significantly attenuated after adjustment for the extent of LGE in the LV, suggesting common myopathy in the LV and LA. In addition, PSM was significantly related to lower LA total emptying fraction independent of age, E/e’, s’, LV ejection fraction, LV myocardial global longitudinal strain and %LGE mass. Conclusions PSM was related to LA dysfunction independent of LV filling pressure and LAVI, suggesting its contribution to atrial myopathy in HCM.

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