Table 1.
Baseline demographics and clinical characteristics
| Enrolled patients, n = 53 | |
|---|---|
| Age, mean (SD), years | 60 (12.0) |
| Sex, n (%) | |
| Male | 47 (88.7) |
| Female | 6 (11.3) |
| Asian race, n (%) | 53 (100) |
| Ethnicity, n (%) | |
| Han Chinese | 52 (98.1) |
| Other | 1 (1.9) |
| TTR genotype, n (%) | |
| Variant | 50 (94.3) |
| A97S (p.A117S) | 11 (20.8) |
| V30M (p.V50M) | 6 (11.3) |
| D18N (p.D38N) | 6 (11.3) |
| S23N (p.S43N) | 3 (5.7) |
| V30L (p.V50L) | 3 (5.7) |
| E61K (p.E81K) | 3 (5.7) |
| Other* | 18 (34.0) |
| Wild-type | 3 (5.7) |
| NAC stage, n (%) | |
| I | 39 (73.6) |
| II | 11 (20.8) |
| III | 3 (5.7) |
| NYHA functional classification, n (%) | |
| I | 3 (5.7) |
| II | 43 (81.1) |
| III | 7 (13.2) |
| IV | 0 |
| 6MWT distance, mean (SD), m [n = 40] | 290 (111.1) |
| NT-proBNP concentration, mean (SD), ng/l | 2950 (4312.5) |
| KCCQ-OS score, mean (SD) | 58 (25.8) |
| SF-12 PCS score, mean (SD) | 28 (9.6) |
| SF-12 MCS score, mean (SD) | 43 (11.9) |
| EQ-5D-5L index score, mean (SD) | 0.5 (0.4) |
| EQ-VAS score, mean (SD) | 63 (18.5) |
| Troponin I concentration, mean (SD), µg/l | 0.2 (0.3) |
| LVEF | |
| Mean (SD), % | 53 (10.9) |
| ≤ 40%, n (%) | 10 (18.9) |
| 41–49%, n (%) | 9 (17.0) |
| ≥ 50%, n (%) | 34 (64.2) |
| eGFR, mean (SD), ml/min/1.73 m2 | 117 (37.9) |
6MWT 6-min walk test, eGFR estimated glomerular filtration rate, EQ-5D-5L 5-level EQ-5D, EQ-VAS EQ visual analog scale, KCCQ-OS Kansas City Cardiomyopathy Questionnaire Overall Summary, LVEF left ventricular ejection fraction, MCS Mental Component Summary, NAC National Amyloidosis Centre, NT-proBNP N-terminal pro-B-type natriuretic peptide, NYHA New York Heart Association, PCS Physical Component Summary, SD standard deviation, SF-12 12-item Short Form Survey, TTR transthyretin
*Other variants each identified in ≤ 2 patients: E89K, G53E, A81V, (each in two patients), A19D, A36P, D39Y, E92K, E42G, G47V, H88R, I84N, L55P, S77F, V122I, and c.*3 *11 del (each in one patient)