Table 1.
Distribution of pathogenic and likely pathogenic variants among tested genes in patients with familial or sporadic dilated cardiomyopathy in the Finnish dilated cardiomyopathy study
| Patients | All (N = 145) | Familial (N = 63) | Sporadic (N = 82) |
|---|---|---|---|
| Males | 107 (73.8%) | 44 (69.8%) | 63 (76.8%) |
| Females | 38 (26.2%) | 19 (30.2%) | 19 (23.2%) |
| Diagnostic yield | |||
| Mutation positive, n (%) | 51 (35.2) | 30 (47.6) | 21 (25.6) |
| Mutation negative, n (%) | 94 (64.8) | 33 (52.4) | 61 (74.4) |
| Causative gene in Finnish dilated cardiomyopathy cohort, N (%) | |||
| Sarcomere genes | |||
| Titin (TTN) | 25 (17.2%) | 13 (20.6%) | 12 (14.6%) |
| β-myosin heavy chain 7 (MYH7) | 1 (0.7%) | 1 (1.6%) | — |
| Troponin T type 2 (TNNT2) | 1 (0.7%) | 1 (1.6%) | — |
| Nuclear lamina | |||
| Lamin A/C (LMNA) | 12 (8.3%) | 9 (14.3%) | 3 (3.7%) |
| Z-disc/related, desmosomal, Ca2+ handling | |||
| Desmoplakin (DSP) | 8 (5.5%) | 4 (6.3%) | 4 (4.9%) |
| RNA-binding motif protein 20 (RBM20) | 2 (1.4%) | 1 (1.6%) | 1 (1.2%) |
| Dystrophin (DMD) | 1 (0.7%) | — | 1 (1.2%) |
| Titin-cap; telethonin (TCAP) | 1 (0.7%) | 1 (1.6%) | — |
| Total | 51 (35.2%) | 30 (47.6%) | 21 (25.6%) |