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Echocardiographic Assessment of Left Ventricular Function in Type 1 Gaucher's Disease

机译：超声心动图评估1型高雪氏病左心室功能

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There is predominate opinion among physicians managing type 1 Gauchers' disease (GD) that cardiac involvement is not an issue in these patients. In order to follow this hypothesis, we prospectively investigated 15 adult imiglucerase-treated type 1 GD patients by echocardiography, Doppler, and tissue Doppler echocardiography. This was a case-controlled study with 18 matched healthy volunteers. The obtained data was correlated with the levels of NT-proBNP (brain natriuretic peptide). None of the GD patients had clinical signs of heart disease. In 3 of the 15 patients, we observed echocardiographic signs of aortic and mitral valve calcification. The left ventricular systolic function was within normal limits. Compared to the control group, there was no statistically significant difference observed in the most sensitive indices of left ventricular diastolic function, parameterEm(P=.095), andE/Emratio (P=.097), as demonstrated by tissue Doppler echocardiography. However, there was a positive correlation between theE/Emratio and NT-proBNP plasma levels (P=.009). In conclusion, the prospective echocardiographic study of type 1 GD patients did not validate any left ventricular dysfunction. But, theE/Emratio showed a strong statistical correlation with the most sensitive indicators of heart failure, NT-proBNP. Research on larger groups of patients and the usage of even more sensitive methods as strain-rate imaging will be necessary to confirm eventual myocardial involvement in GD patients.
机译：在治疗1型Gauchers病（GD）的医生中，多数人认为在这些患者中心脏受累不是问题。为了遵循该假设，我们通过超声心动图，多普勒和组织多普勒超声心动图检查了15名成年伊米苷酶治疗的1型GD患者。这是一项由18名匹配的健康志愿者进行的病例对照研究。获得的数据与NT-proBNP（脑利钠肽）水平相关。 GD患者均无心脏病的临床症状。在15例患者中的3例中，我们观察到了主动脉和二尖瓣钙化的超声心动图迹象。左心室收缩功能在正常范围内。组织多普勒超声心动图显示，与对照组相比，左心室舒张功能的最敏感指标，参数Em（P = .095）和E / Emratio（P = .097）没有观察到统计学上的显着差异。但是，E / Eratio与NT-proBNP血浆水平之间存在正相关（P = .009）。总之，对1型GD患者的前瞻性超声心动图研究未证实任何左心功能不全。但是，E / Eratio与心衰最敏感的指标NT-proBNP表现出很强的统计相关性。为了确认GD患者最终有心肌受累，有必要对更大范围的患者进行研究，并采用更敏感的方法作为应变率成像。

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