P397What are the specific features of Fabry cardiomyopathy

Aim: To determine specific clinical, ECG, echocardiography and cardiac magnetic resonance imaging (CMR) features of fabry disease cardiomyopathy (FCM) in comparison to FD patients without cardiac involvement (N-FCM). Methods: We retrospectively included sixty height subjects, thirty-four patients with FD and thirty-four normal (N) subjects between 2004 and 2013. Detailed demographic, clinical, any organ involvement, ECG, echocardiography and CMR features were recorded. In this study FCM was considered present in subjects with left ventricular hypertrophy based on echocardiography measurement and or the presence of at least two of the following criteria : inverted T waves, Sa velocity at lateral mitral annulus <8 m/sec, global longitudinal strain <18%. Results: The age was 39 [31.5-54.5] years. No difference in demography of the groups. Higher ECG conduction abnormalities (44.1% vs 14.7%, p=0.02), shorter PR (20.6% vs 0%, p=0.01), and higher frequency of inverted T waves (29.4 % vs 0%, p<0.001) in FD vs N. Higher left ventricular mass (LVM) (187.8 [165.9-213] vs 131 [106.1-158], p<0.001), diastolic left ventricular diameter (98 [82-110] vs 75.5 [70-81], p=0.006) and E/Ea (6 [6-7.9] vs 6 [5-6.1], p=0.02), cardiac index (3.25 [2.5-4.4] vs 2.72 [2.4-2.9], p = 0.01), left atrium diameter (19 [17.6-21] vs 15 [13.8-18], p<0.001), diastolic right ventricular diameter (9.4 [7.9-10.2] vs 8.1 [7.2-8.8], p= 0.02) in FD vs N group. In FD, there was (70.1%) cardiac (FCM), (55.9%) renal, (61.8%) neurological, (64.7%) dermatological, (76.5%) ORL, (82.4%) ophthalmologic, (11.8%), pulmonary involvements. 79.4% was under treatment, duration treatment was 35.2 [9-81] months. No difference regards treatment between FCM and N-FCM. No difference in cardiovascular clinical symptoms between FCM and N-FCM. No difference in all organs involvements between FCM and N-FCM. No difference in ECG features except for inverted T waves (FCM 5 (20.8%) vs (0%) in N-FCM, p= 0.02). Higher echocardiography LVMI (117 [97.7-126.8] vs 86 [65-98], p<0.001), a lower E wave velocity in FCM as compared to N-FCM (79 [66.3-92] vs 99 [85.4-105], p= 0.02). In FCM, the LVMI was correlated with age (r=0.6, p=0.0015), and inversely correlated to E/A (r=-0.5, p=0.019). In contrast, LVMI was not correlated to inverted T waves on ECG (r=0.17, p=0.41). Using, cardiac MRI myocardial fibrosis was present in 4 (16.6%) in FCM. Conclusion: The diagnosis of early stage FCM is still challenging. There are no specific clinical features of FCM. The inverted T waves could be useful in the diagnosis of early stage of FCM even without the presence of LVH.