Extended Data Table 1.
Clinical characteristics of 241 individuals with autosomal recessive CM caused by biallelic variants in 18 validated genes
| All (n=241) | DCM (n=122) | HCM (n=53) | ||
|---|---|---|---|---|
| Cardiomyopathy | DCM | 122 (50.6%) | – | – |
| HCM | 53 (22.0%) | – | – | |
| Other | 66 (27.4%) | – | – | |
| Sex assigned at birth | Female | 109 (45.2%) | 52 (42.6%) | 21 (39.6%) |
| Male | 128 (53.1%) | 66 (54.1%) | 32 (60.4%) | |
| Unknown | 4 (1.7%) | 4 (3.3%) | 0 (0%) | |
| Age of onset (years) | Mean (SD) | 12.2 (14.9) | 8.51 (11.4) | 25.4 (16.4) |
| Median [Min, Max] | 4.00 [0, 69.0] | 3.00 [0, 56.0] | 24.0 [0, 69.0] | |
| Unknown | 22 (9.1%) | 15 (12.3%) | 3 (5.7%) | |
| Age of outcome (years) | Mean (SD) | 17.7 (19.0) | 13.9 (15.8) | 37.9 (17.7) |
| Median [Min, Max] | 11.5 [0, 78.0] | 7.00 [0, 59.0] | 37.5 [0.33, 78.0] | |
| Unknown | 29 (12.0%) | 13 (10.7%) | 5 (9.4%) | |
| Outcomes | Alive | 98 (40.7%) | 37 (30.3%) | 42 (79.2%) |
| Deceased | 100 (41.5%) | 54 (44.3%) | 4 (7.5%) | |
| Heart transplant | 26 (10.8%) | 20 (16.4%) | 3 (5.7%) | |
| LVAD | 6 (2.5%) | 6 (4.9%) | 0 (0%) | |
| Unknown | 11 (4.6%) | 5 (4.1%) | 4 (7.5%) | |
| Variant zygosity | Compound heterozygous | 64 (26.6%) | 32 (26.2%) | 6 (11.3%) |
| Double heterozygous | 12 (5.0%) | 5 (4.1%) | 7 (13.2%) | |
| Homozygous | 165 (68.5%) | 85 (69.7%) | 40 (75.5%) | |
| Variant class | Biallelic truncating | 112 (46.5%) | 74 (60.7%) | 24 (45.3%) |
| Biallelic non-truncating | 104 (43.2%) | 35 (28.7%) | 21 (39.6%) | |
| Biallelic mixed | 25 (10.4%) | 13 (10.7%) | 8 (15.1%) |
DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; LVAD. Left ventricular assist device; SD, standard deviation.