Table 1.
Main clinical features and extracardiac manifestations of patients
| Variables | Case 1 | Case 2 | Case 3 |
|---|---|---|---|
| Sex | M | M | M |
| Age at diagnosis | 49 | 48 | 50 |
| Mutation | c.801 + 1G > T | c.747C > A | c.548G > C |
| α‐GAL A activity on leucocytes, nmol/mL/h | 3.38 ± 0.17 | 4.19 ± 0.75 | 4.61 ± 0.62 |
| NYHA at first evaluation | II | I | I |
| Kidney | Kidney transplant a | No | Kidney transplant a |
| Brain | No | No | No |
| Neuropathy | Yes | Yes | Yes |
| Skin | Yes | Yes | Yes |
| Gastrointestinal tract | Yes | No | No |
| Eye | No | Yes | No |
| MSSI | 57 | 40 | 51 |
| Beta‐blockers | Yes | Yes | Yes |
| ERT duration, years | 4 | 9 | 10 |
ERT, enzyme replacement therapy; GAL, galactosidase; MSSI, Mainz Severity Score Index; NYHA, New York Heart Association.
a
Immunosuppressive therapy in these patients did not include tacrolimus.