Biomarkers and the summary of cardiac findings of the patients with A143T/GLA and cardiomyopathy
| Patient | GLA | Lyso-Gb3 | Pacemaker | CMR |
| Heterozygote index female in her 60s on ERT | 100% | 2.5–2.1–3.2* | DDD due to sick sinus syndrome | LVEDVI /LVESVI 93/31 mL/m2
LVEF 67% IVS 14 mm No LGE |
| Hemizygous male in his 30s on ERT | 25% | 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% | 1.8–2.3–4.1 | None | LV dilated: LVEDVI/ESVI 115/52 mL/m2
LVEF 55% IVS 11 mm No LGE |
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.