Table 1

Biomarkers and the summary of cardiac findings of the patients with A143T/GLA and cardiomyopathy

Heterozygote index female in her 60s on ERT100%2.5–2.1–3.2*DDD due to sick sinus syndromeLVEDVI /LVESVI 93/31 mL/m2
LVEF 67%
IVS 14 mm
Hemizygous male in his 30s on ERT25%9.8–1.2–3.0*DDD due to
third degree AV block
LV dilated: LVEDVI/ESVI 107/48 mL/m2
LVEF 55%
IVS 13 mm
Mild LGE in the BIFL LV wall
Hemizygous male in his 20s not on ERT<40%1.8–2.3–4.1NoneLV dilated: LVEDVI/ESVI 115/52 mL/m2
LVEF 55%
IVS 11 mm
  • Lyso-Gb3 level (normal range 0–3.5 ng/mL).

  • GLA activity in leucocytes, % (normal 100%–250%).

  • *Patient on ERT at the time of the lyso-Gb3 measurement.

  • AV block, atrioventricular block; BIFL LV wall, basal inferolateral left ventricular wall; CMR, cardiac magnetic resonance imaging; DDD, dual chamber pacing device; GB3, globotriaosylceramide; IVS, maximal interventricular septum thickness in diastole (normal <12 mm); LGE, late gadolinium enhancement; LVEDVI, left ventricular end-diastolic volume index (normal values for men 57–105 mL/m2); LVEF, left ventricular ejection fraction (normal > 50%); LVESVI, left ventricular end-systolic volume index (normal values for men 14­­­–38 mL/m2); lyso-Gb3, globotriaosylsphingosine.