Table 2.
Characteristics of patients with genetically confirmed Fabry disease
| Sex | Age | Gene variant | Variant type | AGALA activity (μmo/L/h) | Lyso‐Gb3 (ng/mL) | Septal thickness (mm) | Posterior wall thickness (mm) | LVMi (g/m2) | LVOTO | ECG | ICD | Positive family history | Non‐cardiac Fabry disease manifestation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M | 56 | p.N215S | Cardiac | 0.4 | ‐ | 20 | 17 | 107 | Yes | Atrial fibrillation, LBBB | No | No | No |
| M | 57 | p.N215S | Cardiac | 0.7 | ‐ | 23 | 21 | 131 | No |
RBBB + LAH LV hypertrophy |
No | No | No |
| M | 55 | p.N215S | Cardiac | 0.3 | ‐ | 27 | 12 | 112 | No | RBBB + LAH | No | No | No |
| M | 66 | p.N215S | Cardiac | 0.3 | ‐ | 22 | 14 | 96 | No |
RBBB + LAH LV hypertrophy |
No | Yes | Proteinuria |
| F | 56 | p.N215S | Cardiac | 0.3 | 10.0 | 17 | 23 | 111 | Yes | LV hypertrophy | Yes | Yes |
Proteinuria Neuropathic pain |
| F | 53 | p.L294* | Novel | 0.6 | 16.0 | 18 | 14 | 116 | No | LV hypertrophy | No | No |
Proteinuria Angiokeratomas Neuropathic pain |
AGAL, α‐galactosidase; ECG, electrocardiography; ICD, implantable cardioverter‐defibrillator; LAH, left anterior hemiblock; LBBB, left bundle branch block; LV, left ventricle; LVMi, left ventricular mass index; LVOTO, left ventricular outflow tract obstruction; Lyso‐Gb3, plasma globotriaosylsphingosine; RBBB, right bundle branch block.