Table 2

Fabry biomarkers and CMR findings of the male in his 40s with GLA-Thr140Ala mutation

At baseline4 years later7 years later10 years later11 years later
(patient on ERT)
IVS 13 mm
Aorta 48×46 mm
LVEDD/SD 55/35 mm
LVEDVI 102 mL/m2
LVESVI 38 mL/m2
LVEF 68%
IVS 19 mm
Aorta 48×46 mm
LVEDD 49 mm
LVESD 24 mm
LVEDVI 74 mL/m2
LVESVI 24 mL/m2
LVEF 68%
IVS 22 mm
Aorta 48×47 mm
LVEDD 45 mm
LVESD 31 mm
LVEDVI 76 mL/m2
LVESVI 19 mL/m2
LVEF 74%.
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)
IVS 25 mm
Aorta 48×46 mm
LVEDD/SD 48/23 mm
LVEDVI 88 mL/m2
LVESVI 22 mL/m2
LVEF 75 %
SAM phenomenon
ERTAgalsidase alfa 0.20 mg/kg i.v. e.o.w. started at the age of 46Agalsidase 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.
  • 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.