Table 1

Baseline clinical characteristics

TotalNo LELEP values
n=146n=89n=57
Age at baseline (years)39±1433±1248±11<0.001
Male (n (%))57 (39.0)34 (38.2)23 (40.4)0.795
BMI (kg/m²)24±523±425±50.006
BSA (m²)1.8±0.21.8±0.21.8±0.20.033
Heart rate (beats/min)67±1268±1266±120.228
Systolic blood pressure (mm Hg)123±19120±19127±190.040
Diastolic blood pressure (mm Hg)80±1279±1183±120.035
NYHA class (n (%))<0.001
 I112 (76.7)79 (88.8)33 (57.9)
 II24 (16.4)8 (9.0)16 (28.1)
 III9 (6.2)2 (2.2)7 (12.3)
 IV1 (0.7)01 (1.8)
Lyso-Gb3 (ng/mL)9.5 (4.1–24.1)8.9 (2.8–63.0)10.6 (6.9–19.0)0.782
Reduced enzyme activity (n (%))123 (84.2)76 (85.4)47 (82.5)0.635
Enzyme replacement therapy79 (54.1)42 (53.2)37 (46.8)0.036
Kidney function
 GFR (DTPA) (mL/min)105±32112±2893±350.001
 Creatinine (mg/dL)0.8 (0.7–0.9)0.8 (0.7–0.9)0.9 (0.7–1.0)0.002
 Cystatin C (mg/L)0.78 (0.70–0.90)0.76 (0.64–0.84)0.83 (0.73–1.08)0.001
 Proteinuria (n (%))50 (35.0)23 (25.8)27 (50.0)0.003
 CKD stage III–V (n (%))17 (11.6)9 (10.1)8 (14.0)0.471
 Dialysis (n (%))7 (4.8)2 (2.2)5 (8.8)0.110
 Kidney transplantation (n (%))3 (2.1)03 (5.3)0.058
NT-proBNP (pg/mL)91 (41–261)69 (30–132)267 (81–773)<0.001
Cardiovascular history (n (%))
 Hypertensive heart disease40 (27.4)18 (20.2)22 (38.6)0.015
 ICD/PM1 (0.7)01 (1.8)0.390
Neurological manifestations (n (%))
 Depression13 (8.9)4 (4.5)9 (15.8)0.034
 TIA/stroke27 (18.5)15 (16.9)12 (21.1)0.524
 Tinnitus53 (36.3)28 (31.5)25 (43.9)0.129
 Hearing loss28 (19.2)15 (16.9)13 (22.8)0.373
 Dysarthria4 (2.7)04 (7.0)0.011
 Heat intolerance72 (49.3)40 (44.9)32 (56.1)0.235
  • Continuous variables are presented as mean±SD or median (quartiles), and categorical variables are presented with counts and percentages. P<0.05 vs no LE group.

  • BMI, body mass index; BSA, body surface area; CKD, chronic kidney disease; GFR (DTPA): glomerular filtration rate from 99mTc-diethylene triamine penta-acetic acid renography; ICD, implantable cardioverter defibrillator; LE, late gadolinium enhancement; Lyso-Gb3: plasma globotriaosylsphingosine; NT-proBNP, N-terminal pro-brain natriuretic peptide; NYHA, New York Heart Association; PCI, percutaneous coronary intervention; PM, pacemaker; TIA, transient ischaemic attack.