Department of Internal Medicine, Division of Cardiology, Kyung Hee University School of Medicine, Seoul, South Korea.
Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-Ro, Gangnam-Gu, Seoul, 06273, Republic of Korea.
Cardiovasc Ultrasound. 2021 Jan 6;19(1):4. doi: 10.1186/s12947-020-00233-y.
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.
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).
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.
PSM was related to LA dysfunction independent of LV filling pressure and LAVI, suggesting its contribution to atrial myopathy in HCM.
左心房（LA）扩大和功能障碍与肥厚型心肌病（HCM）患者的临床病程有关。我们旨在研究遗传因素对 LA 结构和功能重塑的贡献。
连续招募了 212 名患者，并进行了超声心动图和广泛的基因分析。135 名患者进行了心脏磁共振（CMR）检查。对照组（n=30）也进行了超声心动图检查。
与对照组相比，HCM 患者的舒张晚期二尖瓣环速度（a'）较低，左心房容积指数（LAVI）较高。有致病性或可能致病性肌节基因突变（PSM，n=67，32%）的患者 LAVI 较高，CMR 测定的左心房总排空分数较低（37.0±18.5%比 44.2±12.4%，p=0.025）。在没有房颤（AF）的患者（n=187）中，PSM 的 a'（6.9±2.0 比 7.8±1.9 cm/s，p=0.004）较低。PSM 患者的左心室（LV）有更高的晚期钆增强（LGE）发生率和程度。在多变量分析中，PSM 与较低的 a'独立于 E/e'、LV 质量指数和 LAVI 相关。然而，在调整 LV 中 LGE 的程度后，这种关系显著减弱，提示 LV 和 LA 中有共同的肌病。此外，PSM 与较低的 LA 总排空分数独立于年龄、E/e'、s'、LV 射血分数、LV 心肌整体纵向应变和%LGE 质量相关。
PSM 与 LA 功能障碍有关，与 LV 充盈压和 LAVI 无关，提示其对 HCM 中的心房肌病有贡献。
