Fabry biomarkers and CMR findings of the male in his 40s with GLA-Thr140Ala mutation
| At baseline | 4 years later | 7 years later | 10 years later | 11 years later | |
| Lyso-Gb3 (patient on ERT) | 13,1 | 7,3 | 7,9 | 11,5 | |
| eGFR | 80 | >60 | 57 | 71 | 65 |
| U-Alb | 13 | 26 | 97 | 39 | 8 |
| TnT | 0.04✶ | 22 | 34 | 37 | 45 |
| pro-BNP | 50 | 44 | 49 | 123 | 498 |
| CMR | LGE- IVS 13 mm Aorta 48×46 mm LVEDD/SD 55/35 mm LVEDVI 102 mL/m2 LVESVI 38 mL/m2 LVEF 68% | LGE- IVS 19 mm Aorta 48×46 mm LVEDD 49 mm LVESD 24 mm LVEDVI 74 mL/m2 LVESVI 24 mL/m2 LVEF 68% | LGE+ IVS 22 mm Aorta 48×47 mm LVEDD 45 mm LVESD 31 mm LVEDVI 76 mL/m2 LVESVI 19 mL/m2 LVEF 74%. | LGE+ IVS 19 mm Aorta 48×47 mm LVEDD/SD 49/25 mm LVEDVI 89 mL/m2 LVESVI 23 mL/m2 LVEF 74 % Low T1 time <900 ms (except high T1 time >1000 ms in the fibrotic area posterolaterally) | LGE+ IVS 25 mm Aorta 48×46 mm LVEDD/SD 48/23 mm LVEDVI 88 mL/m2 LVESVI 22 mL/m2 LVEF 75 % SAM phenomenon |
| ERT | Agalsidase alfa 0.20 mg/kg i.v. e.o.w. started at the age of 46 | Agalsidase beta 1 mg/kg i.v. e.o.w. | Agalsidase beta 1 mg/kg i.v. e.o.w. | Agalsidase beta 1 mg/kg i.v. e.o.w. | Agalsidase beta 1 mg/kg i.v. e.o.w. |
| IgG-antibodies | Negative | Negative | Negative | Negative |
Aorta, dimensions at sinus Valsalva (normal >40 mm); CMR, eGFR, (normal >60 mL/min/1.73); (normal <12 mm), this measurement from basal posterolateral septum; LGE, LVEDVI, (normal values for men 57–105 mL/m2); LVEF, left ventricular ejection fraction (normal >50%); LVESVI, (normal values for men 14–38 mL/m2); Lyso-Gb3, (normal 0.0–3.5 ng/mL) measured in ARCHIMEDlife laboratory in Vienna of dried blood spot sample; pro-BNP, (normal 0–900 ng/L); SAM, TnT, (normal 0–15 ng/L) (✶normal 0–0.1 ug/L)); U-Alb, (normal 0–25 mg/L).
BNP, brain natriuretic peptide; CMR, cardiac MR; eGFR, estimated glomerular filtration rate; IVS, interventricular septum; LGE, late gadolinium enhancement; LVEDI, Left Ventricular End-Diastolic Volume Index; LVESVI, Left Ventricular End-Systolic Volume Index; Lyso-Gb3, globotriaosylsphingosine; SAM, systolic anterior movement; TnT, troponin; U-Alb, urine albumin.