Table 2. Baseline data, medical history, biomarkers and cardiac work up in patients with FD in relation to cardiac troponin I elevation and normal values.
| Patient 1 | Patient 2 | Patient 3 | FD-patients without cTNIelevation (n = 11) | |
| cTNI (ng/ml); median (range) | 0.59 (0.49–0.71) | 0.08 (0.06–0.13) | 0.073 (0.07–0.18) | <0.01 |
| Baseline data | ||||
| Age | 61 | 59 | 35 | 50 (21–80) |
| Male | No | No | Yes | 5 |
| BMI (kg/m2) | 19.8 | 19.3 | 22.4 | 23.6 (20.4–30.8) |
| Medical history | ||||
| Hypertension | No | No | No | 0 |
| Diabetes mellitus | No | No | No | 0 |
| Hypercholesterolemia (n = 9) | No | No | No | 0 |
| Current Smoker | No | No | No | 0 |
| Peripheral artery occlusive disease | No | No | No | 0 |
| Angina pectoris | Yes | No | No | 0 |
| Intima media thickness | No | No | No | 0 |
| Acute coronary syndrome | No | No | No | 0 |
| Previous stroke | No | No | No | 3 |
| Angioceratoma | No | Yes | Yes | 3 |
| Cornea verticillata | Yes | Yes | Yes | 1 |
| Gastrointestinal symptoms | Yes | Yes | Yes | 2 |
| Small fibre neuropathy* | Yes | Yes | Yes | 3 |
| White matter lesions (cerebral MRI) | Yes | n.d. | No | 5 |
| Clinical chemistry | ||||
| α-GAL-A activity (nmol MU/mg protein); (reference range >33); (n = 13) | 5 | 2.6 | 0.02 | 49 (26–63) |
| Serum-Lyso-Gb3 (ng/ml) (reference range <0.5), (n = 13) | 15.2 | 21.7 | 67.1 | 0.1 (LLQ§-0.73) |
| Brain natriuretic peptide (pg/ml); (reference range <37); (n = 12) | 161 | 288 | 15 | 16 (2–90) |
| Serum-Creatinin (mg/ml) | 1.1 | 0.7 | 1.2 | 0.8 (0.7–1) |
| eGFR(ml/min/1.73 m2) | 53.4 | 88.7 | 73.2 | 84.4 (64.9–151.3) |
| Proteinuria (mg/24 h); (reference range <159 mg/24 h) | 1141 | 1062 | 318 | 81.8 (52–160.2) |
| Albuminuria (mg//24 h); (reference range <30 mg/24 h) | 657 | 739 | 204 | 21 (17–30.9) |
| Cardiac MRI (n = 13) | ||||
| LVEF (%); (reference range ≤60%) | 77 | 65 | 64 | 62 (46–70) |
| LV-hypertrophy/concentric | Yes | Yes | Yes | 0 |
| LV-hypertrophy/eccentric | No | No | No | 0 |
| RV-hypertrophy | No | No | No | 0 |
| Ventricular wall thickness (mm); (reference range ≤11 mm)† | 14 | 11 | 10 | 8 (6–11) |
| Ventricular Septum (mm); (reference range ≤11 mm) | 14 | 14 | 8 | 7 (5–10) |
| LV-mass index (g/m2) (reference range ≤115 g/m2 inmales and ≤95 g/m2 in females) | 133.4 | 92 | 141.9 | 101 (65.2–139.5) |
| LGE | 1 | 1 | 1 | 0 |
| Electrocardiogram | ||||
| Sinus rhythm | Yes | Yes | Yes | 11 |
| PQ-duration (ms); (reference range ≤200 ms) | 216 | 116 | 134 | 138 (116–164) |
| QRS-duration (ms); (reference range ≤100 ms) | 90 | 110 | 94 | 88 (76–112) |
| QT-duration (ms); (reference range <460 ms) | 411 | 415 | 384 | 397 (370–432) |
| Holter | ||||
| Arrhythmia$ | 1 | 1 | 0 | 1 |
| Pacemaker | No | No | No | 1 |
*a small fibre dysfunction was proved by quantitative sensory testing or by skin biopsy.
†
measurement end-diastolic in the posterior wall of the left ventricle.
$
Arrhythmia was considered if one of the following conditions was detected: persistent or intermittent atrial fibrillation of flatter, sustained tachycardia (heart rate ≥100/minute for more than 30 seconds), non-sustained tachycardia (heart rate ≥100/minute for less than 30 seconds in at least 3 subsequent hear cycles), incomplete bundle branch block (QRS-duration: 100–119 ms) or complete bundle branch block (QRS-duration ≥120 ms).
§
lower level of quantification.