Table 1.
Clinical and demographic characteristics at diagnosis by age of diagnosis
| Whole cohort (no. of patients (%)) | <1 year (no. of patients (%)) | >1 year (no. of patients (%)) | P-value | ||
|---|---|---|---|---|---|
| Gender | Male | 434 (63.2%) | 102 (64.2%) | 332 (62.9%) | 0.77* |
| Aetiology | Non-syndromic | 433 (63%) | 62 (39%) | 371 (70.3%) | <0.0001 |
| Noonan syndrome (or RASopathies) | 126 (18.3%) | 67 (42%) | 59 (11.2%) | <0.0001 | |
| Friedreich’s ataxia | 59 (8.6%) | 59 (11.2%) | |||
| Other neuromuscular syndrome | 5 (0.7%) | 5 (1%) | |||
| Inborn error of metabolism | 64 (9.3%) | 30 (18.9%) | 34 (6.4%) | <0.0001 | |
| Family history of HCM (n = 680) | 242 (35.6%) | 26 (16.4%) | 216 (41.5%) | <0.0001* | |
| Family history of SCD (n = 682) | 50 (7.3%) | 3 (1.9%) | 47 (9%) | 0.039* | |
| NYHA/Ross at presentation (n = 684) | I | 516 (75.4%) | 94 (59.5%) | 422 (80.2%) | <0.0001 |
| II | 133 (19.4%) | 42 (26.6%) | 91 (17.3%) | 0.12 | |
| III | 29 (4.2%) | 17 (10.8%) | 12 (2.3%) | <0.0001 | |
| IV | 6 (0.9%) | 5 (3.2%) | 1 (0.2%) | 0.267 | |
| Cause of mortality (n = 75) | SCD | 20 (2.9%) | 2 (1.3%) | 18 (3.4%) | |
| CCF | 12 (1.7%) | 10 (6.3%) | 2 (0.4%) | ||
| Other CV | 12 (1.7%) | 8 (5%) | 4 (0.8%) | ||
| Non-CV | 17 (2.5%) | 12 (7.5%) | 5 (0.9%) | ||
| Unknown | 14 (2%) | 3 (1.9%) | 11 (2.1%) | ||
Data expressed as n (%). Total number of patients is 687 unless otherwise stated. All comparisons are made using a two-sample proportion test unless otherwise stated.
*
Comparisons were made using χ2 test.