Table 3.
Long-term FUP characteristics in participants with the D313Y genotype
| Follow-up characteristics |
Mean±SD |
|||||
|---|---|---|---|---|---|---|
| Variable/participant (#) | 1 | 2 | 3 | Baseline (n=3) | Follow-up (n=3) | p Value |
| Follow-up time (years) | 5 | 5 | 2.5 | 4.2±1.4 | ||
| Demographics (mean/range) | ||||||
| Age (years) | 56 | 26 | 22 | 30±18 | 35±19 | 0.027 |
| Gender (male/female) | Male | Female | Female | 1/3 (33/66%) | 1/3 (33/66%) | – |
| BMI (kg/m2) | 20.5 | 24.9 | 20.8 | 23±1.7 | 22±3 | 0.236 |
| Biomarkers (mean/range) | ||||||
| Serum lyso-Gb3 (ng/mL) | LLOQ | 0.23 | 0.8 | 0.6±0.5 | 0.5±0.4 | 0.487 |
| NT-proBNP (pg/mL) | 49 | 48 | 30 | 103±110 | 42±11 | 0.477 |
| Cardiovascular (mean/range) | ||||||
| SBP (mm Hg) | 125 | 135 | 104 | 120±5 | 121±16 | 0.892 |
| DBP (mm Hg) | 75 | 85 | 73 | 81±6 | 78±6 | 0.095 |
| HR (bpm) | 64 | 76 | 66 | 75±13 | 69±6 | 0.159 |
| Malignant cardiac arrhythmia (%) | no | no | no | 0 | 0 | – |
| Echocardiography (mean/range) | ||||||
| LVEF (%) | 55 | 65 | 63 | 66±5 | 61±5 | 0.417 |
| IVSed (mm) | 7 | 8 | 7 | 7.6±1.5 | 7.3±0.6 | 0.423 |
| LVPWed (mm) | 7 | 8 | 7 | 7.3±1.5 | 7.3±0.6 | 0.184 |
| E/A | 1.2 | 1.2 | 1.4 | 1.5±0.3 | 1.3±0.1 | 0.184 |
| DT (ms) | 191 | 207 | 155 | 185±49 | 184±27 | 0.989 |
| 2D-Speckle tracking (mean/range) | ||||||
| Global strain (%) | −16.25 | −18.28 | −20.81 | −20.6±2.46 | −18.45±2.28 | 0.243 |
| Global strain rate(S−1) | −0.89 | −1.00 | −0.96 | −1.09±0.1 | −0.95±0.06 | 0.222 |
| Cardiac MRI (mean/range) | ||||||
| LGE (%) | no | no | no | 0 | 0 | – |
| n LVM (g/m2) | 53 | 49 | 49 | 48±6 | 50±2 | 0.844 |
| n ESV (mL/m2) | 21 | 28 | 24 | 40±4 | 24±4 | 0.590 |
| n EDV (mL/m2) | 66 | 74 | 67 | 116±3 | 69±4 | 0.410 |
| n SV (mL/m2) | 45 | 47 | 43 | 76±6 | 79±5 | 0.205 |
| CI (L/min/m2) | 3.0 | 2.9 | 2.8 | 3.5±0.6 | 2.9±0.1 | 0.330 |
| LVEF (%) | 60 | 63 | 64 | 65±4 | 62±2 | 0.742 |
| Renal (mean/range) | ||||||
| eGFR (mL/min/1.73 qm) | 75 | 88 | 106 | 106±7 | 90±16 | 0.320 |
| Serum–creatinine (mg/dL) | 1.08 | 0.83 | 0.73 | 0.8±0.06 | 0.9±0.18 | 0.380 |
| Cystatin C (mg/L) | 0.83 | 0.63 | 0.86 | 0.6±0.08 | 0.8±0.13 | 0.060 |
| UPCR (mg/gL) | 47 | 38 | 76 | 63±21 | 54±20 | 0.824 |
| Fabry-associated (%) | ||||||
| Angiokeratoma | no | no | no | 0 | 0 | – |
| Cornea verticillata | no | no | no | 0 | 0 | – |
| Frequent diarrhoea | no | no | no | 33 | 0 | 1.000 |
| Vertigo | yes | no | no | 33 | 33 | – |
| Tinnitus | yes | no | no | 33 | 33 | – |
| Neurology (%) | ||||||
| Fabry-associated pain | no | no | no | 0 | 0 | – |
| Hypohidrosis | no | no | no | 33 | 0 | 1.000 |
| Heat intolerance | no | no | no | 33 | 0 | 1.000 |
| Cold intolerance | no | no | no | 0 | 33 | 1.000 |
| History of TIA | no | no | (yes) | 33 | 33 | – |
| History of cerebrovascular insult | no | no | no | 0 | 0 | – |
BMI, body-mass-index in kg/m2; CI, cardiac index in cardiac MRI; DBP, diastolic blood pressure; DT, deceleration time; eGFR, estimated glomerular filtration rate (MDRD formula); HR, heart rate in bpm; IVSed, interventricular septum thickness in end-diastole; LGE, late gadolinium enhancement; LLOQ, lower limit of quantification; LVDED, left ventricular diameter in end-diastole; LVDES, left ventricular diameter in end-systole; LVEF, left ventricular ejection fraction; LVPWed, left ventricular posterior wall thickness in end-diastole; Lyso-Gb3 reference: <0.9 ng/mL; n EDV, normalised end-diastolic volume in cardiac MRI; n ESV, normalised end-systolic volume in cardiac MRI; n LVM, normalised left ventricular mass in cardiac MRI; n SV, normalised stroke volume in cardiac MRI; NT-proBNP, N-terminal pro-brain natriuretic peptide, reference: age-dependent, <125 pg/mL; SBP, systolic blood pressure; SR, sinus rhythm; TIA, transient ischaemic attack; UPCR, urinary protein-to-creatinine ratio.