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首页> 外文期刊>Ultrasound in Medicine and Biology >Prominent papillary muscles in Fabry disease: a diagnostic marker?
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Prominent papillary muscles in Fabry disease: a diagnostic marker?

机译：法布里病中突出的乳头肌：诊断标志物？

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Fabry disease is often linked with a prominent papillary muscle. It remains unknown whether this sign could be used as a diagnostic marker to screen for Fabry patients. Standard echo was performed in 101 consecutive patients with concentric left ventricular (LV) hypertrophy (28 Fabry, 30 Friedreich, 34 isolated arterial hypertension, 9 amyloidosis) and 50 healthy controls. In addition, the areas of both papillary muscles, as well as the LV endocardial circumference, were manually traced in short axis views. A ratio of papillary muscle size to LV circumference was calculated (PM_LV_ratio). The papillary muscle area was positively correlated to LV wall thickness in this cohort (p < 0.0001; r = 0.58). In all patient subgroups, the absolute papillary muscle area was significantly enlarged and the PM_LV_ratio was significantly higher when compared with controls. However, Fabry patients showed a significantly larger absolute papillary muscle area than Friedreich and amyloidosis patients and a higher PM_LV_ratio than hypertensive and amyloidosis patients. Enlarged absolute papillary muscle area was evidenced in 21 (75%), and increased PM_LV_ratio was found in 22 (78%) of 28 Fabry patients. Combining these two parameters yields a sensitivity of 75% and specificity of 86% for diagnosing Fabry disease with LV hypertrophy. Only 10 of 73 non-Fabry patients (14%) (4 Friedreich, 1 amyloidosis, 5 hypertensive) showed an increased absolute papillary muscle area and PM_LV_ratio. In conclusion, this study confirmed the assumption that the prominent papillary muscle could be an echocardiographic marker for detection of Fabry patients with concentric LV hypertrophy.
机译：法布里病通常与突出的乳头肌相关。尚不知道该体征是否可用作诊断法布里（Fabry）患者的诊断标记。在101名连续性同心左心室（LV）肥大患者中（28 Fabry，30 Friedreich，34个孤立性动脉高血压，9个淀粉样变性）和50个健康对照进行了标准回声。此外，在短轴视图中手动绘制了两个乳头肌以及左心内膜周围区域。计算乳头肌大小与左心室周长的比率（PM_LV_ratio）。在该队列中，乳头肌面积与左室壁厚度呈正相关（p <0.0001; r ​​= 0.58）。与对照组相比，在所有患者亚组中，绝对乳头肌面积均显着增大，PM_LV_ratio显着更高。但是，法布里（Fabry）患者显示的绝对乳头肌面积明显大于弗里德里希（Friedreich）和淀粉样变性患者，并且PM_LV_ratio比高血压和淀粉样变性患者更高。在28名法布里（Fabry）患者中，有21名（75％）的绝对乳头肌面积增大，并且PM_LV_ratio增加了（22％（78％））。将这两个参数结合起来，可诊断出法布里病伴有LV肥大，敏感性为75％，特异性为86％。 73名非法布里病患者中只有10名（14％）（弗里德里希（Friedreich），淀粉样变性1例，高血压5例）显示绝对乳头肌面积和PM_LV_ratio增加。总之，这项研究证实了以下假设：突出的乳头肌可能是超声心动图标记，可用于检测法布里患有同心性LV肥大的患者。

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