Department of Radiology, Kuopio University Hospital, Kuopio, Finland.
Heart and Lung Center, Department of Cardiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Sci Rep. 2019 Apr 11;9(1):5960. doi: 10.1038/s41598-019-42376-7.
This manuscript has not been published before and is not currently being considered for publication elsewhere. Increased septal convexity of left ventricle has been described in subjects with hypertrophic cardiomyopathy (HCM) -causing mutations without left ventricular hypertrophy (LVH). Our objective was to study septal convexity by cardiac magnetic resonance (CMR) in subjects with the Finnish founder mutation Q1016X in the myosin-binding protein C gene (MYBPC3). Septal convexity was measured in end-diastolic 4-chamber CMR image in 67 study subjects (47 subjects with the MYBPC3-Q1061X mutation and 20 healthy relatives without the mutation). Septal convexity was significantly increased in subjects with the MYBPC3-Q1061X mutation and LVH (n = 32) compared to controls (11.4 ± 4.3 vs 2.7 ± 3.2 mm, P < 0.001). In mutation carriers without LVH, there was a trend for increased septal convexity compared to controls (4.9 ± 2.5 vs 2.7 ± 3.2 mm, P = 0.074). When indexed for BSA, septal convexity in mutation carriers without LVH was 2.8 ± 1.4 mm/m and 1.5 ± 1.6 mm/m in controls (P = 0.036). In all mutation carriers, septal convexity correlated significantly with body surface area, age, maximal LV wall thickness, LV mass, and late gadolinium enhancement. Subjects with the MYBPC3-Q10961X mutation have increased septal convexity irrespective of the presence of LVH. Septal convexity appears to reflect septal remodeling, and could be useful in recognizing LVH negative mutation carriers.
这篇手稿以前从未发表过，目前也不在其他地方考虑发表。在没有左心室肥厚（LVH）的情况下，患有肥厚型心肌病（HCM）的基因突变的患者的左心室心尖凸度增加已有描述。我们的目的是通过心脏磁共振（CMR）研究肌球蛋白结合蛋白 C 基因（MYBPC3）中的芬兰创始突变 Q1016X 患者的室间隔凸度。在 67 名研究对象的舒张末期 4 腔 CMR 图像中测量室间隔凸度（47 名 MYBPC3-Q1061X 突变患者和 20 名无突变的健康亲属）。与对照组相比，MYBPC3-Q1061X 突变和 LVH 患者（n=32）的室间隔凸度显著增加（11.4±4.3 与 2.7±3.2mm，P<0.001）。在没有 LVH 的突变携带者中，与对照组相比，室间隔凸度有增加的趋势（4.9±2.5 与 2.7±3.2mm，P=0.074）。当按 BSA 索引时，无 LVH 的突变携带者的室间隔凸度为 2.8±1.4mm/m，对照组为 1.5±1.6mm/m（P=0.036）。在所有突变携带者中，室间隔凸度与体表面积、年龄、最大 LV 壁厚度、LV 质量和晚期钆增强显著相关。无论是否存在 LVH，携带 MYBPC3-Q10961X 突变的患者的室间隔凸度均增加。室间隔凸度似乎反映了室间隔重塑，对于识别 LVH 阴性的突变携带者可能有用。
