Characteristics of patient with hemizygous Fabry disease
| Characteristics | Patient 1 | Patient 2 |
| Demographics | ||
| Age | 58 | 51 |
| Sex | m | m |
| α Gal activity and genetic | ||
| α Gal (µmol/L/hour)* | 0.7 | 1.6 |
| Lyso Gb3 (ng/mL)† | 9.8 | 1.2 |
| Mutation | c.644A>G p. N215S | Arg118Cys |
| Medical history and symptoms | ||
| Familial history of HCM | 0 | 0 |
| Hypertension | 0 | 1 |
| Stroke | 0 | 0 |
| Chronic renal failure | 0 | 0 |
| Angiokeratoma | 0 | 0 |
| Acroparesthesia | 0 | 0 |
| Cornea opacities | 0 | 0 |
| Angor | 1 | 0 |
| Arrhythmia | 0 | 0 |
| Pacemaker | 0 | 0 |
| Echocardiography | ||
| Wall thickness | 22 | 21 |
| Binary endocardium | 0 | 0 |
| LVOTO | 0 | 1 |
| Valvulopathy | AR | RMN |
| RV Hypertrophy | 0 | 0 |
| RMN | ||
| T1 mapping (ms) | 730 | 850 |
| LGE fibrosis | Absent | Absent |
* Reference value≥1.8 µmol/L/hour.
† Reference value≤1.8 ng/mL.
α Gal, α galactosidase A activity; HCM, hypertrophic cardiomyopathy; LGE, late gadolinium enhancement; LVOTO, left ventricular outflow tract obstruction; Lyso Gb3, Lyso globotriaosylceramide; RMN, resonance magnetic nuclear; RV, right ventricular.