Table 1.
Demographics and baseline characteristics
| Total | NS | NSML | CS | CFCS | Noonan‐like | P value | |
|---|---|---|---|---|---|---|---|
| Number of patients, n (%) | 149 (100) | 111 (74.5) | 12 (8.1) | 6 (4) | 6 (4) | 11 (7.4) | — |
| Gender (male), n (%) | 92 (61.7) | 70 (60.1) | 9 (75) | 3 (50) | 1 (16.7) | 6 (54.5) | 0.163 |
| Age at diagnosis (months), median (25–75th centile) | 1.4 (0–10.3) | 1.28 (0–8.7) | 0 (0–11) | 3.3 (2.4–71.2) | −0.16 (−0.3 to 6.7) | 4.9 (−1.2 to 121.9) | 0.401 |
| Age at baseline (months), median (25–75th centile) | 22.5 (5.7–82.9) | 26.4 (6.4–83.7) | 37.7 (3–129.6) | 13.6 (9.6–27.1) | 8.11 (0.9–15.4) | 14.1 (1.2–64) | 0.563 |
| Proband, n (%) | 121 (90.3) | 91 (82) | 9 (75) | 6 (100) | 5 (83.3) | 10 (90.1) | 0.269 |
| FHx HCM, n (%) | 17 (11.4) | 12.6 (14) | 3 (25) | 6 (100) | — | — | 0.223 |
| PMHx CCF, n (%) | 23 (22.2) | 16 (14.4) | 5 (41.7) | — | — | 2 (18.2) | 0.104 |
| PMHx arrhythmia, n (%) | 7 (7.1) | 6 (5.4) | — | — | — | 1 (9.1) | 0.729 |
| CHD, n (%) | 51 (46.4) | 38 (34.2) | 4 (33.3) | — | 3 (50) | 4 (36.4) | 0.174 |
| Extra‐cardiac manifestations | 69 (65.1) | 54 (48.6) | 5 (41.7) | 3 (50) | 3 (50) | 4 (36.4) | 0.001 |
| Symptoms, n (%) | 61 (57.3) | 50 (45.1) | 7 (58.3) | 1 (16.7) | 1 (16.7) | 2 (18.2) | 0.073 |
| Shortness of breath | 67 (82.8) | 58 (81.69) | 6 (85.71) | — | 1 (16.67) | 2 (66.67) | 0.071 |
| Fatigue | 10 (18.03) | 8 (11.26) | 1 (14.28) | — | — | 1 (33.33) | 0.121 |
| Presyncope/syncope | 3 (4.91) | 3 (4.22) | — | — | — | — | 0.354 |
| Chest pain/palpitations | 2 (3.28) | 2 (2.81) | — | — | — | — | 0.784 |
| Medications, n (%) | 69 (47.9) | 50 (45.1) | 9 (75) | 1 (16.7) | 3 (50) | 5 (45.5) | 0.198 |
| Beta‐blockers | 56 (81.15) | 42 (84) | 8 (88.89) | 1 (100) | 1 (33.33) | 4 (66.67) | 0.134 |
| Diuretics | 12 (17.39) | 9 (18) | — | — | 2 (66.67) | 1 (16.67) | 0.151 |
| Disopyramide | 4 (5.79) | 3 (6) | 1 (11.11) | — | — | — | 0.702 |
| Ca channel blockers | 3 (4.34) | 1 (2) | 1 (11.11) | — | — | 1 (16.67) | 0.264 |
| Amiodarone | 1 (1.44) | 1 (2) | — | — | — | — | 0.987 |
CCF, congestive cardiac failure; CFCS, cardiofaciocutaneous syndrome; CHD, congenital heart defect; CS, Costello syndrome; FHx, family history; HCM, hypertrophic cardiomyopathy; NS, Noonan syndrome; NSML, Noonan syndrome with multiple lentigines; PMHx, past medical history.Bold numbers represent statistically‐significant p values