Table 2.
Clinical and echocardiographic characteristics of patients with events
| Family | Age/gender | a‐GAL‐A activity on leukocytes nmol/mg/h | a‐GAL‐A activity on leukocytes % | GLA mutation | GAL A protein effect | NYHA | GFR (MDRD, mL/min/1.73 m2) | Proteinuria (g/L/24 h) | LVWT (mm) | LVMi (g/m2) | RVWT (mm) | Fastex score | CV events | Non‐CV events |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 57 M | 4.04 | 9,52 | c.548G > C | p. Gly183Ala | II | 36.6 | 0.69 | 26 | 426.39 | 10 | 55 | PM | ‐ |
| 1 | 55/M | 0.95 | 2,23 | c.548G > C | p. Gly183Ala | II | 50.7 | 1.02 | 20 | 195 | 7 | 60 | AF | ‐ |
| 2 | 43/F | n.a. | c.758 T > C | p.Ile253Thr | III | 68.9 | 2.39 | 13 | 93 | 2.5 | 100 | ‐ | eGFR decline, Stroke | |
| 2 | 68/M | 0.8 | 1.98 | c.758T > C | p.Ile253Thr | III | 92 | 0.57 | 17 | 185.7 | 4 | 100 | ‐ | Stroke |
| 3 | 52/M | 2.08 | 4.90 | c.639 + 1G > A | splicing alteration | II | 21 | 18 | 239.6 | 6 | 0 | ‐ | eGFR decline (dialysis) | |
| 4 | 69/F | n.a. | c.644A > G | p.(ans215Ser) | III | 77 | 0.59 | 13 | 122.6 | 6 | 50 | ‐ | Death | |
| 5 | 66/F | n.a. | c.680G > A | p.(arg227Gln) | II | 92.3 | 0.13 | 13 | 141.8 | 6 | 75 | PM, AF | ‐ | |
| 6 | 70/M | 7.72 | 18.16 | c.644A > G | p.(ans215Ser) | II | 66.6 | 0.09 | 23 | 268.3 | 7.5 | 85 | PM, AF | ‐ |
| 7 | 78/M | 2,0 | 4,70 | c.644A > G | p.(ans215Ser) | II | 58.6 | 0.07 | 28 | 301.9 | 7.2 | 65 | PM | ‐ |
| 8 | 50/M | 3,25 | 7,66 | c.747C > A | p.(Ans249Lys) | II‐III | 98.2 | 0.44 | 25 | 281.7 | 7.7 | 100 | Worsening NHYA | ‐ |
| 9 | 51/M | 2.45 | 5,78 | c.547 + 1G > T | Splicing alteration | II | 24.2 | 18 | 220.5 | 5 | 55 | PM | Kidney TX | |
| 10 | 50/M | 6,55 | 15,41 | c.644° > G | p.(ans215Ser) | I | 62 | 0.7 | 12 | 95.8 | 3.1 | 95 | PM | ‐ |
| 5 | 39/M | 0.63 | 1,49 | c.680G > A | p.(arg227Gln) | I | 182 | 0.15 | 12 | 104.1 | 2.5 | 35 | ‐ | Death, Stroke |
AF, atrial fibrillation; GFR, glomerular filtration rate calculated with The Modification of Diet in Renal Disease Study (MDRD) equation; LVMi left ventricular mass index; LVWT, left ventriclular wall thickness; PM, pacemaker implantation; RVWT, right ventricular wall thickness.
The Fastex score was calculated using the available online tool (www.fastex.online). The normal range for a‐GAL‐A activity is 20 to 65 nmol/mg/hr. a‐GAL‐A activity was not measured in female patients. We report proteinuria dosage only for patients with GFR ≥ 30 mL/min/m2 according to MDRD method.