Table 2.
Clinical characteristics of patients with Danon disease in Japan.
| Characteristics | Male | Female |
|---|---|---|
| Subjects, n | 17 | 22 |
| Probands, n | 16 | 4 |
| Manifesting mothers of the probands, n (%) | 10/16 (63%) | 0/4 (0%) |
| Age at onset, n | ||
| Infantile | 4 | 0 |
| Childhood | 9 | 1 |
| Second decade | 4 | 5 |
| Adult | 0 | 1 |
| Unknown | 0 | 15 |
| Alive at the time of the survey, n | 7 | 11 |
| Dead at the time of the survey, n | 10 | 11 |
| Age at death, year-old, mean ± SD | 19 ± 5 (n = 7) | 37 ± 11 (n = 7) |
| Cause of death, n (%) | ||
| Cardiac failure | 9/10 (90%) | 11/11 (100%) |
| Cancer | 1/10 (10%) | 0/0 (0%) |
| Myopathy, n (%) | 17/17 (100%) | 2/22 (9%) |
| Muscle weakness | 13/17 (76%) | 2/22 (9%) |
| No weakness with myogenic change on EMG | 4/17 (24%) | 0/22 (0%) |
| Cardiomyopathy, n (%) | 17/17 (100%) | 21/22 (95%) |
| Hypertrophic | 15/17 (88%) | 11/22 (50%) |
| Dilated | 2/17 (12%) | 6/22 (27%) |
| Unknown | 0/17 (0%) | 4/22 (18%) |
| Mental retardation, n (%) | 8/17 (46%) | 2/22 (9%) |
| Retinopathy, n (%) | 1/17 (6%) | 1/22 (5%) |
| Pes cavus, n (%) | 1/17 (6%) | 1/22 (5%) |
| Cerebral infarction, n (%) | 0/17 (0%) | 2/22 (9%) |
| Heart transplantation, n (%) | 0/17 (0%) | 1/22 (5%) |
| Awaiting heart transplantation, n (%) | 2/17 (12%) | 3/22 (14%) |
| Left ventricular assist device, n (%) | 1/17 (6%) | 4/22 (18%) |
| Treatment of blocker, n (%) | 6/17 (35%) | 11/22 (50%) |
| Elevated CK, n (%) | 16/17 (94%) | 3/12 (25%) |
| Serum CK (IU/L), mean ± SD | 1086 ± 715 | 148 ± 164 |
| Abnormal ECG, n (%) | 17/17 (100%) | 18/18 (100%) |
| WPW syndrome, n (%) | 9/17 (54%) | 4/18 (22%) |
| Abnormal echocardiogram, n (%) | 17/17 (100%) | 17/18 (94%) |
| Myogenic EMG, n (%) | 11/11 (100%) | 0/6 (0%) |
| Abnormal nerve conduction study, n (%) | 1/12 (8%) | 0/1 (0%) |
SD, standard deviation; EMG, electromyography; CK, creative kinase; ECG, electrocardiogram; WPW, Wolff–Parkinson–White.