Data on the children with RDEB who developed DCM (patients 1–6)
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | |
| Parents | Unrelated Caucasian | Consanginous Pakistani | Unrelated Caucasian | Unrelated Caucasian | Unrelated Caucasian | Unrelated Caucasian | |
| Birth weight (kg) | 6 lb 2oz | 2.95 | 2.4 | 3.4 | 3.35 | 4.1 | |
| Skin biopsy confirmation of DEB | No | Yes | Yes | Yes | Yes | Yes | |
| Age at gastrostomy insertion (y) | 10.5 | 4.6 | 1.5 (removed at 1.7 y; reinserted at 3.5 y) | 6 | 5.8 | 7.6 | |
| Weight centile pre-gastrostomy | <3rd | <3rd | <3rd | 2nd | <2nd | 9th | |
| Weight centile post-gastrostomy | 3rd | <3rd | < 3rd | 25th | 3rd | 25th | |
| Haemoglobin (g/l)1-150 | 88 (60–100) | 100 (60–116) | 67 (50–82) | 89 (51–134) | 94 (54–118) | 98 (86–111) | |
| Oral iron supplements | Yes | Yes | Yes | Yes | Yes | Yes | |
| Blood transfusion | 1 | 2 | 11 in total | 10 in total | 2 in total | None | |
| Free carnitine (μmol/l) (normal range = 22–50) | No levels | 20.9 (6.7 y) | 9 (4.9 y) | 26 (6.2 y) | 22 (5.3 y) | 42 (7.2 y) | |
| 37 (5.2 y) | 43 (7.9 y) | 27 (5.6 y) | 36 (9.3 y) | ||||
| 32 (10.1 y) | 15 (6.5 y) | ||||||
| 11 (7.4 y) | |||||||
| 10 (7.7 y) | |||||||
| 53 (8 y) | |||||||
| 54 (8.6 y) | |||||||
| Total carnitine (μmol/l) (normal range = 26–62) | No levels | No levels | 12 (4.9 y) | 32 (6.2 y) | 29 (5.3 y) | 41 (9.3 y) | |
| 38 (5.2 y) | 51 (7.9 y) | 37 (5.8 y) | |||||
| 27 (5.4 y) | 37 (10.1 y) | 19 (6.5 y) | |||||
| 37 (10.5 y) | 31 (7.4 y) | ||||||
| 15 (7.7 y) | |||||||
| 56 (8 y) | |||||||
| 70 (8.6 y) | |||||||
| Acyl carnitine (μmol/l) (normal range = 4–12) | No levels | No levels | 3 (4.9 y) | 5 (10.1 y) | 5 (7.7 y) | 5 (9.3 y) | |
| 1 (5.2 y) | 3 (8 y) | ||||||
| 16 (8.6 y) | |||||||
| Selenium (μmol/l) (normal range = 0.7–1.7) | No levels | 0.53 (6.3 y) | 0.61 (3.5 y) | 0.5 (6.2 y) | 0.42 (5.3 y) | 1.08 (6 y) | |
| 0.7 (6.7 y) | 0.8 (4.6 y) | 1.04 (7.2 y) | 0.72 (5.6 y) | 1.21 (7.2 y) | |||
| 0.71 (4.9 y ) | 1.02 (7.9 y) | 0.72 (5.8 y) | 1.03 (8.3 y) | ||||
| 0.6 (5.2 y) | 1.1 (8.8 y) | 0.81 (7.4 y) | 0.98 (9.3 y) | ||||
| 0.77 (5.4 y) | 0.82 (10 y) | 0.82 (7.7 y) | |||||
| 0.47 (5.7 y) | 0.93 (10.5 y) | 0.95 (8 y) | |||||
| 1 (8.3 y) | |||||||
| Plasma albumin (g/l)1-150(normal range = 35–55) | 30 (28–33) | 30 (26–32) | 31.2 (27–35) | 33.7 (29–40) | 32.7 (28–36) | 34 (25–39) | |
| Age at last normal echocardiogram (y) | None performed | None performed | 4.5 | 9 | 8 | 6.9 | |
| Abnormal echocardiogram readings | 12.5 y: SF 14%; dilated cardiomyopathy | 6.7 y: SF 9% | 5.8 y: SF 16% | 9.9 y: SF 27% | 8.8 y: SF 27% | 8.3 y: SF 28% | |
| 6.1 y: SF 20% | 10.5 y: SF 26% | No change in repeat echocardiograms | 9.3 y: SF 25% | ||||
| 9.8 y: SF 22% | |||||||
| Blood tests at time of cardiomyopathy diagnosis | Coxsackie B, HHV 6 (negative IgM); autoantibody profile (negative), creatinine kinase (normal) | Adenovirus, Coxsackie B, parvovirus, influenza A and B, Mycoplasma (negative IgM); autoantibody screen (negative) | Enteroviruses and hepatitis B (negative IgM) | Enteroviruses (negative IgM), creatinine kinase (normal) | |||
| Clinical cardiac state | Acute deterioration at 12.5 y; death at 12.7 y | Acute deterioration at 6.7 y; death at 6.9 y | Acute LVF at 6.1 y; death at 6.2 y | Moderate deterioration in exercise tolerance; remains alive | No significant cardiac symptoms; remains alive | No cardiac therapy yet required; remains alive | |
Patients 1 and 2 previously reported in Melvilleet al.4
↵1-150 Results expressed as mean (range).