Variable/participant (#) | 1 | 2 | 3 | 4 | 5 | 6 | Mean±SD/% |
---|---|---|---|---|---|---|---|
Demographics | |||||||
Age (years) | 51 | 21 | 19 | 44 | 18 | 43 | 33±15 |
Gender (male/female) | Male | Female | Female | Female | Female | Female | 1/6 (17/83%) |
BMI (kg/m2) | 22.1 | 24.8 | 21.8 | 29.8 | 43.5 | 18.1 | 26.7±9 |
Age at diagnosis (years) | 51 | 21 | 14 | 44 | 18 | 43 | 32±16 |
Biomarkers | |||||||
Serum lyso-Gb3 (ng/mL) | LLOQ | 0.23 | 0.9 | 0.7 | 0.5 | 0.7 | 0.6±0.3 |
AgalA (nmol/min/mg prot.) | 0.32 | 0.32 | 0.81* | 0.45 | NA | 0.23 | 0.33±0.9 |
NT-proBNP (pg/mL) | 49 | 30 | 229 | 56 | 77 | 38 | 80±75 |
hs-TnT (pg/mL) | NA | <5 | NA | <5 | <5 | <5 | <5 |
Cardiovascular | |||||||
SBP (mm Hg) | 115 | 125 | 120 | 132 | 107 | 110 | 118±9 |
DBP (mm Hg) | 80 | 87 | 75 | 97 | 68 | 74 | 80±10 |
HR (bpm) | 63 | 89 | 72 | 101 | 73 | 104 | 84±17 |
Echocardiography | |||||||
LVEF (%) | 69 | 69 | 60 | 60 | 61 | 79 | 66±8 |
LVDED (mm) | 49 | 42 | 45 | 47 | 47 | 34 | 44±5 |
LVDES (mm) | 33 | 27 | 32 | 24 | 27 | 23 | 28±4 |
IVSed (mm) | 7 | 8 | 6 | 9 | 8 | 6 | 8±1 |
LVPWed (mm) | 7 | 7 | 6 | 9 | 8 | 6 | 8±1 |
E/A | 1.6 | 1.2 | 1.8 | 1.0 | 1.5 | 1.2 | 1.4±0.3 |
DT (ms) | 152 | 241 | 161 | 163 | 101 | 178 | 166±45 |
Speckle tracking strain (%) | |||||||
Global strain | −20.75 | −18.13 | −23.06 | −21.75 | −23.06 | −22.81 | −21.6±1.9 |
Basal strain | −17.25 | −14.19 | −17.90 | −17.34 | −20.27 | −17.86 | −17.47±2 |
Mid-strain | −19.84 | −18.11 | −19.12 | −19.59 | −22.40 | −19.88 | −19.8±1.4 |
Apical strain | −26.25 | −22.71 | −30.76 | −27.62 | −26.70 | −30.57 | −27.4±3 |
Septal strain | −21.48 | −19.47 | −22.19 | −20.54 | −22.24 | −24.61 | −21.8±1.8 |
Lateral strain | −20.74 | −17.20 | −22.99 | −22.49 | −24.01 | −20.92 | −23.25±1.1 |
Speckle tracking strain rate (S−1) | |||||||
Global strain rate | −1.11 | −0.98 | −1.18 | −1.38 | −1.08 | −1.77 | −1.25±0.3 |
Basal strain rate | −1.08 | −0.98 | −1.18 | −1.18 | −1.04 | -−1.48 | −1.15±0.2 |
Mid-strain rate | −1.06 | −1.05 | −0.99 | −1.18 | −1.10 | −1.66 | −1.17±0.3 |
Apical strain rate | −1.54 | −1.42 | −1.31 | −1.77 | −1.43 | −2.65 | −1.69±0.5 |
Septal strain rate | −1.23 | −1.10 | −1.14 | −1.21 | −1.16 | −1.86 | −1.28±0.3 |
Lateral strain rate | −1.22 | −1.20 | −1.18 | −1.54 | −1.22 | −2.00 | −1.39±0.3 |
Cardiac MRI | |||||||
LGE (yes/no) | NA | no | no | no | no | no | 0% |
n LVM (g/m2) | NA | 52 | 44 | 64 | 57 | 43 | 52±9 |
n ESV (mL/m2) | NA | 21 | 25 | 34 | 22 | 28 | 26±5 |
n EDV (mL/m2) | NA | 67 | 66 | 71 | 73 | 56 | 67±7 |
n SV (mL/m2) | NA | 46 | 41 | 37 | 52 | 39 | 43±6 |
CI (l/min/m2) | NA | 4.0 | 3.1 | 3.2 | 3.7 | 4.2 | 3.6±0.5 |
LVEF (%) | NA | 68 | 62 | 52 | 70 | 69 | 64±7.5 |
AgalA, enzyme activity in leucocytes, reference: 0.4–1.0 nmol/min/mg protein or *reference: 0.36–0.84 MU/mg.
BMI, body-mass-index in kg/m2; CI, cardiac index in cardiac; DT, deceleration time; HR, heart rate in bpm; hs-TnT, high-sensitive Troponin T, reference: <14 pg/mL; 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; MRI; DBP, diastolic blood pressure; 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; NA, not available; NT-proBNP, N-terminal pro-brain natriuretic peptide, reference: age-dependent, <125 pg/mL; SBP, systolic blood pressure; SR=sinus rhythm.