Saccheri María C, Cianciulli Tomás F, Lax Jorge A, Gagliardi Juan A, Cáceres Guillermo L, Quarin Alejandra E, Kisinovsky Isaac, Rozenfeld Paula A, Reisin Ricardo C
Cardiology Department, Hospital of the Government of the City of Buenos Aires "Dr. Cosme Argerich", Buenos Aires, Argentina.
Echocardiography. 2013 Oct;30(9):1069-77. doi: 10.1111/echo.12216. Epub 2013 Apr 19.
Fabry disease (FD) is characterized by left ventricular hypertrophy (LVH). Conventional echocardiography is not sensitive enough to perform the preclinical diagnosis To assess whether longitudinal myocardial strain of the left ventricle (LV), using speckle tracking, is useful to detect early myocardial involvement in FD. Forty-four patients with FD who were diagnosed with genetic testing were prospectively included and were compared to a sex-matched control group. They were divided into three groups: 22 with LVH (Group I), 22 without LVH (Group II), and 22 healthy volunteers (Group III). LV longitudinal strain was measured from the apical views. An ANOVA test was used for multiple comparisons for variables with a normal distribution, and a Kruskal-Wallis test was used for variables with non-Gaussian distribution. Longitudinal LV strain was different in the three groups: it was ≥-15% in at least one segment in all Group I patients, in 50% of patients of Group II and in no patient of Group III. Seventy percent of the segments with abnormal strain in Group II were located in the basal regions (32/46). These findings show that the presence of at least one strain value ≥-15% demonstrates subclinical myocardial dysfunction in patients with preclinical FD. Longitudinal myocardial LV strain measured with speckle tracking is a useful tool to detect early myocardial involvement in young patients with FD. This information allows the detection and treatment of myocardial dysfunction at an early stage, which is of high clinical importance.
法布里病（FD）的特征是左心室肥厚（LVH）。传统超声心动图对进行临床前诊断不够敏感。为了评估使用斑点追踪技术测量的左心室（LV）纵向心肌应变是否有助于检测FD患者早期心肌受累情况。前瞻性纳入了44例经基因检测确诊的FD患者，并与性别匹配的对照组进行比较。他们被分为三组：22例有LVH的患者（I组），22例无LVH的患者（II组），以及22名健康志愿者（III组）。从心尖视图测量左心室纵向应变。对于呈正态分布的变量，使用方差分析进行多重比较；对于呈非高斯分布的变量，使用Kruskal-Wallis检验。三组的左心室纵向应变不同：I组所有患者中至少有一个节段的纵向应变≥-15%，II组50%的患者以及III组无患者达到该标准。II组中应变异常的节段70%位于基底部区域（32/46）。这些发现表明，至少有一个应变值≥-15%表明临床前FD患者存在亚临床心肌功能障碍。使用斑点追踪技术测量的左心室纵向心肌应变是检测FD年轻患者早期心肌受累的有用工具。该信息有助于早期检测和治疗心肌功能障碍，具有很高的临床重要性。
