Rozwadowska Katarzyna, Daniłowicz-Szymanowicz Ludmiła, Fijałkowski Marcin, Sikorska Katarzyna, Gałąska Rafał, Kozłowski Dariusz, Gruchała Marcin, Raczak Grzegorz
Clinical Centre of Cardiology, University Clinical Centre, Gdansk, Poland.
II Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdansk, Poland.
Echocardiography. 2018 Nov;35(11):1772-1781. doi: 10.1111/echo.14141. Epub 2018 Sep 25.
Hereditary haemochromatosis (HH) is a common inherited disease. Abnormally increased intestinal iron absorption and accelerated recycling of iron by macrophages lead to progressive body iron accumulation and the generation of oxidative stress. In the late stages, iron overload can lead to dysfunction of the left ventricle (LV). It is believed that two-dimensional speckle tracking echocardiography (2D STE) can evaluate LV dysfunction more accurately than conventional echocardiography. This accurate evaluation seems to be clinically important in the early stages of HH before substantial damage of the LV. Evaluation of this assessment was the purpose of this paper.
We prospectively enrolled 24 patients with early diagnosed HH and without any history of cardiovascular diseases; 23 healthy age- and sex-matched volunteers constituted the control group. Standard echocardiographic parameters and LV rotation and strain parameters were assessed and compared between the groups.
All echocardiographic parameters were within normal ranges, and there were no differences between the groups. 2D STE revealed significantly worse basal and apical rotation, twist and torsion values in HH patients. The peak systolic longitudinal strain was decreased in HH patients, even though the LV ejection fraction (LVEF) was normal. There were weak correlations between the iron turnover and 2D STE parameters.
2D STE seems to be more sensitive than traditional echocardiography for detecting LV abnormalities in HH patients who are diagnosed early. The results of this study may be clinically useful, but their relevance and therapeutic implications remain to be confirmed by further studies.
遗传性血色素沉着症（HH）是一种常见的遗传性疾病。肠道铁吸收异常增加以及巨噬细胞铁循环加速导致体内铁逐渐蓄积并产生氧化应激。在疾病后期，铁过载可导致左心室（LV）功能障碍。人们认为二维斑点追踪超声心动图（2D STE）比传统超声心动图能更准确地评估左心室功能障碍。在HH患者左心室发生实质性损害之前的早期阶段，这种准确评估在临床上似乎很重要。本文旨在评估这种评估方法。
我们前瞻性纳入了24例早期诊断为HH且无任何心血管疾病史的患者；23名年龄和性别匹配的健康志愿者组成对照组。评估并比较两组的标准超声心动图参数以及左心室旋转和应变参数。
所有超声心动图参数均在正常范围内，两组之间无差异。2D STE显示HH患者的基底段和心尖段旋转、扭转和扭矩值明显更差。尽管左心室射血分数（LVEF）正常，但HH患者的收缩期峰值纵向应变降低。铁周转率与2D STE参数之间存在弱相关性。
对于早期诊断的HH患者，2D STE在检测左心室异常方面似乎比传统超声心动图更敏感。本研究结果可能具有临床实用性，但其相关性和治疗意义仍有待进一步研究证实。
