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Table 1 The demographic data and clinical manifestations of the Fabry disease patients with IVS4 + 919G > A mutation

From: Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

Pt Age Sex Comorbidity Histologya α-Gal Ac LysoGb3d LVMIe Cr/eGEFf LEg ERTi/Dosej
HC MB MFL Other Diameter Initial biopsy
1 58 M Hyperlipidemia; Hypertension + + +   34.7 ± 4.4 1.35 3.21 57.0 57.0 0.88/94.5 No Not yet/0
2 61 M Hyperlipidemia; Hepatitis B + + +   21.8 ± 3.3 2.75 6.51 66.9 66.9 0.92/88.9 severe Not yet/0
3 75 M Coronary artery disease; Arrhythmia; Hepatitis C; Cholecystitis + + +   31.5 ± 4.0 1.15 6.51 83.0 83.0 1.29/57.7 NAh Not yet/0
4 66 M DM; Hypertension;ESRD s/p renal transplantation; Cholecystitis; Hyperuricemia + + +   30.8 ± 5.6 1.29 7.13 154.9 154.9 1.77/41.1 severe Not yet/0
5 64 M Hypertension; Coronary artery disease; Hyperlipidemia; Hyperuricemia + + +   33.5 ± 8.0 1.32 7.47 128.1 128.1 0.97/82.8 No Not yet/0
6 58 M Hyperlipidemia + + -   24.1 ± 2.4 2.17 9.60 54.5 38.5 1.01/80.6 No 8M/3.80
7 61 M Cubital tunnel syndrome + + +   25.9 ± 2.8 1.54 7.53 52.2 52.2 0.85/97.4 severe 10M/4.11
8 56 M Hypertension; DM; Duodenal ulcer + + -   25.6 ± 7.0 1.39 6.13 74.5 74.8 0.92/90.5 No 10M/4.35
9 66 M Hyperlipidemia; Sick sinus syndrome + + + Fattyb 24.9 ± 3.6 1.15 9.77 136.4 113.9 1.4/53.9 No 1Y5M/7.53
10 52 M Coronary artery disease; Fatty liver + + + Fibrosis 21.1 ± 5.0 0.94 11.27 54.8 61.0 0.86/99.3 No 1Y6M/8.18
11 62 M BPH; Bladder cancer; Osteoarthritis + + -   21.6 ± 4.0 0.79 5.06 50.7 52.8 0.95/85.4 mild 1Y11M/9.76
12 63 M Hyperlipidemia; Arrhythmia s/p pacemaker + + -   23.2 ± 3.4 1.02 13.51 51.2 50.9 1.16/67.6 NAh 2Y9M/14.90
13 58 M Hypertension; Hyperlipidemia + + +   26.2 ± 5.6 1.32 5.44 50.5 41.0 1.15/69.4 mild 2Y10M/15.61
14 58 M Hypertension + + +   24.0 ± 5.4 1.30 8.22 66.5 83.7 1.1470.1 No 2Y11M/16.33
15 66 M Hypertension, Hyperuricemia + + +   24.2 ± 4.1 1.47 14.54 88.2 81.4 0.81/101.3 severe 2Y11M/16.33
16 47 M Hypertension; Arrhythmia + Scanty -   23.1 ± 4.1 0.65 6.16 92.1 74.9 0.8/110.1 severe 4Y3M/44.84
17 58 M Hypertension; DM; BPH + No -   23.6 ± 3.8 0.88 5.19 76.0 71.4 0.84/99.8 severe 4Y3M/36.13
18 60 F Lung adenocarcinoma; Hypertension; Insomnia + + -   24.6 ± 3.4 5.79 2.12 48.9 31.2 0.75/83.8 No 1Y2M/6.51
19 65 F Hypertension + + +   20.5 ± 3.3 9.63 4.24 52.1 37.2 0.62/102.7 No 2Y2M/12.34
20 70 F Hypertension; Major depression + + +   25.8 ± 6.9 6.51 3.67 64.0 54.1 0.67/92.5 mild 2Y9M/14.90
21 62 F Hypertension + + + Fattyb 23.5 ± 3.5 5.17 3.49 53.4 31.1 0.83/74.0 mild 2Y10M/15.35
22 61 F Chronic renal insufficiency; Hyperuricemia + Scanty -   23.5 ± 7.1 4.03 2.60 59.2 49.0 2.98/17.0 No 3Y1M/18.50
  1. DM: diabetes mellitus, BPH: benign prostate hyperplasia, ERT: enzyme replacement therapy, ESRD: end-stage renal disease, MRI: magnetic resonance imaging. aHistology of endomyocardial biopsies: HC: hypertrophic cardiomyocyte; MB: myelin bodies; MFL: myofibrillolysis; Diameter: minor cardiomyocyte diameter in mean ± SD (μm), and the control: 14.89 ± 2.63 μm; bFatty: fatty infiltration within the myocardium; cα-Gal A: normal reference ranges: 7.9-16.9 nmol/hr/ml; dLysoGb3: normal reference ranges:<0.5 nM; eLVMI (g/m2.7): left ventricular mass index; fCr/eGFR: Cr(serum creatinine): normal range: 0.5-1.5 mg/dl; eGFR (estimated glomerular filtration rate): normal range: >60 ml/min/1.73 m2; gLE: late-enhancement by MRI: No: no fibrosis, mild: one segment, severe: more than 2 segment; hNA: not available. The two patients had arrhythmia with implanted pacemaker and MRI cannot be arranged; iERT duration before biopsy; jDose (mg/kg): the cumulative dose of ERT before endomyocardial biopsy.