Cohort characteristics by cardiomyopathy phase
| N | Whole cohort | Cardiomyopathy phase | P value | ||||
| Phase I | Phase II | Phase III | Phase IV | ||||
| Demographics | |||||||
| Age (years) | 42 | 54 (39–62) | 35 (24–47) | 39 (36–50) | 55 (54–57) | 62 (56–64) | <0.001 |
| Body mass index (kg/m2) | 42 | 25 (22–28) | 27 (23–40) | 23 (20–24) | 26 (24–28) | 25 (24–27) | 0.676 |
| Male sex | 42 | 26 (62%) | 2 (25%) | 6 (55%) | 6 (67%) | 12 (86%) | 0.005 |
| Current smoker | 42 | 5 (12%) | 1 (13%) | 2 (18%) | 0 (0%) | 2 (14%) | 0.872 |
| Non-classical mutation | 42 | 24 (57%) | 4 (50%) | 5 (45%) | 4 (44%) | 11 (79%) | 0.123 |
| Comorbidities | |||||||
| Ischaemic heart disease | 42 | 4 (10%) | 0 (0%) | 0 (0%) | 2 (22%) | 2 (14%) | 0.142 |
| Diabetes mellitus | 42 | 2 (5%) | 0 (0%) | 1 (9%) | 0 (0%) | 1 (7%) | 0.690 |
| Chronic kidney disease | 42 | 6 (14%) | 0 (0%) | 0 (0%) | 1 (11%) | 5 (36%) | 0.007 |
| Stroke/Transient ischaemic attack | 42 | 4 (10%) | 1 (13%) | 1 (9%) | 1 (11%) | 1 (7%) | 0.722 |
| Medications | |||||||
| Enzyme replacement therapy | 42 | 18 (43%) | 1 (13%) | 5 (45%) | 6 (67%) | 6 (43%) | 0.241 |
| Statin | 42 | 15 (36%) | 1 (13%) | 2 (18%) | 3 (33%) | 9 (64%) | 0.006 |
| ACE-i/ARB | 42 | 11 (26%) | 1 (13%) | 3 (27%) | 1 (11%) | 6 (43%) | 0.163 |
| Beta-blockers | 42 | 9 (21%) | 0 (0%) | 0 (0%) | 5 (56%) | 4 (29%) | 0.029 |
| Biochemistry | |||||||
| Proteinuria | 42 | 15 (36%) | 3 (38%) | 6 (55%) | 1 (11%) | 5 (36%) | 0.522 |
| Creatinine (μmol/L) | 42 | 77 (67–91) | 67 (63–71) | 77 (68–87) | 68 (66–99) | 90 (80–115) | 0.003 |
| HS troponin-I (ng/L)* | 32 | 20 (<5–97) | <5 (<5-<5) | <5 (<5–13) | 22 (16–91) | 106 (82–450) | <0.001 |
| HS troponin-T (ng/L)† | 9 | 49 (12–55) | –b | –b | –b | –b | –b |
| NT-proBNP (ng/L) | 42 | 211 (83–1150) | 98 (34–130) | 68 (28–162) | 423 (167–660) | 1311 (491–2855) | <0.001 |
| ACR (mg/mmol) | 41 | 3.6 (0.8–17.9) | 1.8 (0.7–13.7) | 6.8 (0.6–38.4) | 2.6 (0.8–18.8) | 7.6 (1.0–17.9) | 0.474 |
| Cholesterol (mmol/L) | 42 | 4.4±0.9 | 4.4±0.8 | 4.1±0.8 | 4.9±1.1 | 4.3±1.0 | 0.883 |
Continuous variables are reported as ‘mean±SD’ or ‘median (IQR)’, as applicable, with p values from Jonckheere-Terpstra tests. Binary variables are reported as ‘N (column %)’, with p values from Mann-Whitney U tests (ie, comparing the ‘average’ cardiomyopathy phase between the two categories). Bold p values are significant at p<0.05.
*The laboratory truncated troponin measurements at a lower limit of 5 ng/L; measurements below this were assigned a value of 4 ng/L for analysis, and are reported as ‘<5’ .
†Trends in HS troponin-T were not assessed, due to the small sample size.
ACE-i, ACE inhibitors; ACR, urine albumin to creatinine ratio; ARB, angiotensin II receptor blockers; HS, high sensitivity; NT-proBNP, N-terminal pro B-type natriuretic peptide.