肥厚性心肌病患者肌节基因突变对左房功能的影响。

IF 1.9 3区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Hyemoon Chung, Yoonjung Kim, Chul Hwan Park, In-Soo Kim, 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
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引用次数: 7

摘要

背景:肥厚性心肌病(HCM)患者的左心房(LA)增大和功能障碍与临床病程有关。我们的目的是研究遗传对LA结构和功能重塑的贡献。方法:连续纳入212例患者,进行超声心动图和广泛的遗传分析。135例患者行心脏磁共振(CMR)检查。对照组(n = 30)也行超声心动图检查。结果:HCM患者舒张后期二尖瓣血流速度(a′)低于对照组,左室容积指数(LAVI)高于对照组。致病性或可能致病性肌瘤基因突变(PSM, n = 67, 32%)的患者LAVI较高,cmr衍生的LA总排空分数较低(37.0±18.5比44.2±12.4%,p = 0.025)。无房颤患者(n = 187) PSM的a′(6.9±2.0 vs. 7.8±1.9 cm/s, p = 0.004)低于其他患者。PSM在左心室(LV)有较高的发病率和晚期钆增强(LGE)的数量。在多变量分析中,PSM与较低的“独立于E/ E”、左室质量指数和LAVI显著相关。然而,在调整了左室LGE的程度后,这种关系显著减弱,表明左室和左室有共同的肌病。与年龄、E/ E′、s′、左室射血分数、左室心肌总纵应变和%LGE质量无关,PSM与低左室总空分数显著相关。结论:PSM与左室充盈压和LAVI无关,与左室功能障碍有关,提示PSM与HCM心房肌病有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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

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

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

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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来源期刊
Cardiovascular Ultrasound
Cardiovascular Ultrasound CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
4.10
自引率
0.00%
发文量
28
审稿时长
>12 weeks
期刊介绍: Cardiovascular Ultrasound is an online journal, publishing peer-reviewed: original research; authoritative reviews; case reports on challenging and/or unusual diagnostic aspects; and expert opinions on new techniques and technologies. We are particularly interested in articles that include relevant images or video files, which provide an additional dimension to published articles and enhance understanding. As an open access journal, Cardiovascular Ultrasound ensures high visibility for authors in addition to providing an up-to-date and freely available resource for the community. The journal welcomes discussion, and provides a forum for publishing opinion and debate ranging from biology to engineering to clinical echocardiography, with both speed and versatility.
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