法布瑞氏症是一種罕見的隱性X染色體性聯遺傳疾病，由於缺乏α-Gal A，導致鞘糖脂的病理性堆積。法布瑞氏症患者可以通過基因檢測和血液酶檢測來發現，但早期發現法布瑞氏症患者有心血管疾病的研究尚不成熟，我們無法知道法布瑞氏症何時會導致心血管系統的病變。我們的目的是找出判別心血管系統是否受到法布瑞氏症影響。
　　我們招募了70名健康受試者和35名法布瑞氏症患進行檢查。掃描動態短軸影像，用於評估心臟體積、質量和功能。組織相位圖以評估左心室整體的心肌運動。獲得二維和四維血流磁振造影用於分析主動脈血流。ROC curve用於計算靈敏度、特異性和準確性，以及對心臟容積，心肌運動和主動脈血流進行相關分析。
　　法布瑞氏症患者有較低的左心室縱向收縮縱向速度、主動脈總流量和平均速度，以及較高的左心室射出分率、左心室峰值射出速率、左心室舒張縱向不同步指數和主動脈逆流。法布瑞氏症患者的左心室舒張期徑向不同步指數和左心室質量以及左心室質量指數呈正相關。正常人的主動脈平均速度和左心室舒張末期容積指數、左心室收縮末期容積指數、左心室心搏量以及左心室質量指數呈正相關。法布瑞氏症患者的主動脈逆流和左心室舒張徑向速度以及左心室舒張縱向速度呈負相關；和左心室舒張徑向不同步指數，左心室收縮縱向不同步指數和左心室舒張縱向不同步指數呈正相關。
　　本研究中的分析有助於在法布瑞氏症患者早期發現心血管系統的病變，以及探討心臟容積、心肌運動和主動脈血流這三種參數的潛在相互作用。

Fabry disease (FD) is a rare recessive X-linked disorder which caused by deficiency of the enzyme alpha-galactosidase A (α-Gal A) leading to pathologic accumulation. FD patients can be detected by genetic test and blood-enzyme test, but the study of early detecting FD patients with cardiovascular manifestation is still immature and we do not know when FD will cause cardiovascular system damaged. Our purpose is to early detect cardiovascular manifestation for FD patients with preserved cardiac function.
We recruited 70 normal volunteers and 35 FD patients. Scanned cine short-axis view for evaluating the cardiac volume, mass and function. Tissue phase mapping was performed for evaluating left ventricular (LV) global myocardial motion. Acquired 2D and 4D flow MRI for analyzing aortic flow. Receiver operating characteristic curve was used to calculate sensitivity, specificity and accuracy. Correlation analysis was performed on cardiac volumetric index, myocardial motion and aortic flow.
FD patients showed lower LV systolic Vz, aortic total flow and mean velocity and higher LV ejection fraction, LV peak ejection rate, LV diastolic dyssynchrony index in longitudinal direction and aortic retrograde flow. LV diastolic dyssynchrony index (DI) in radial direction positively correlates with LV mass and LV mass index (LVMI) in FD patients. Aortic mean velocity positively correlates with LV end diastolic volumetric index, LV end systolic volumetric index, LV stroke volume and LVMI in normal volunteer. Aortic mean velocity positively correlates with LV diastolic Vr and LV systolic Vz and negatively correlates with LV diastolic DIz in FD patients. Aortic retrograde flow positively correlates with LV diastolic DIr, LV systolic DIz and LV diastolic DIz in FD patients.
In conclusion, the analysis in our study can help us early find cardiovascular system with lesion and understand the potential interaction of cardiac volumetric motion, myocardial motion and aortic flow.

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