Table 2.
Echocardiographic features
| Total | NS | NSML | CS | CFCS | Noonan‐like | P value | |
|---|---|---|---|---|---|---|---|
| LVEDD (mm), median (25–75th centile) | 23.2 (18.6–30.9) | 23.2 (18.6–31) | 24.9 (18.4–29) | 20.1 (18.8–21) | 19.1 (19–19.2) | 26.2 (20.8–33.6) | 0.489 |
| LVEDD z score, mean (SD) | −1 (0.97) | −1.57 (0.9) | −2.36 (1.2) | −3.21 (3.1) | −3.2 (0.9) | +5.5 (0.7) | 0.039 |
| LA diameter (mm), median (25–75th centile) | 25.7 (18.3–30.9) | 23 (15.2–30.5) | 29 (25.8–42) | — | — | 25.6 (19.6–29) | 0.309 |
| LA diameter z score, mean (SD) | +19 (3.2) | +19.9 (3.5) | — | — | — | +20.6 | 0.969 |
| MLVWT (mm), median (25–75th centile) | 11 (8–14) | 11 (9–14) | 13.5 (10–15.5) | 7.5 (7–8.4) | 8.2 (5–8) | 7 (6–12.5) | 0.004 |
| MLVWT z score, mean (SD) | +9.6 (1.9) | +9.9 (2.1) | +17 (8.7) | +7 (2.1) | +6.4 (3.1) | +6.5 (5) | 0.074 |
| LVOT gradient (mmHg), median (25–75th centile) | 23 (8–60) | 20 (9–60) | 60 (36–80) | 8 (4–45) | 27 (5–32) | 6 (4–10) | 0.004 |
| LVOTO, n (%) | 44 (39.1) | 32 (28.9) | 8 (66.7) | 1 (16.7) | 2 (33.3) | 1 (9.1) | 0.032 |
| Mid‐cavity obstruction, n (%) | 36 (24.2) | 28 (25.2) | 6 (50) | — | 1 (16.67) | 1 (9.1) | 0.009 |
| SAM, n (%) | 44 (29.5) | 33 (29.7) | 8 (66.7) | 1 (16.7) | — | 2 (18.2) | 0.012 |
| RVH, n (%) | 46 (48.9) | 33 (63.5) | 6 (66.7) | 1 (16.7) | 1 (16.67) | 4 (36.4) | 0.287 |
| RVOT gradient (mmHg), median (25–75th centile) | 10 (4–30) | 10 (4–27) | 5 (1–30) | 2 (2–2.5) | 2 (—) | 4 (2.5–17) | 0.019 |
| RVOTO, n (%) | 18 (39.1) | 14 (16.2) | 3 (25) | 2 (33.3) | — | 1 (9.1) | 0.607 |
| EF (%), median (25–75th centile) | 79 (73–85) | 77 (72–85) | 81 | 83.5 (81–86) | 89 (—) | 77 (74.5–79.5) | 0.871 |
| Systolic dysfunction, n (%) | 1 (3) | 1 (3) | — | — | — | — | 0.631 |
| E/E′ average, median (25–75th centile) | 10.77 (7.4–15.1) | 10.9 (7.3–15.3) | 10 (9.6–12.8) | 10.2 (9.6–11.6) | 8.6 (—) | — | 0.183 |
| Diastolic dysfunction, n (%) | 9 (30) | 8 (7.2) | 1 (8.3) | — | — | — | 0.456 |
| ASH, n (%) | 34 (26) | 24 (21.6) | 3 (25) | 2 (33.3) | 3 (50) | 2 (16.7) | |
| Concentric, n (%) | 52 (39.7) | 33 (29.7) | 7 (58.3) | 2 (33.3) | 3 (50) | 7 (58.3) | |
| Eccentric, n (%) | 4 (3.1) | 4 (5.4) | — | — | — | — | |
| Apical, n (%) | 3 (2.3) | 3 (4.1) | — | — | — | — | |
| Unknown, n (%) | 18 (12.1) | 10 (9) | 2 (16.7) | 2 (33.3) | — | 3 (25) |
ASH, Asymmetric septal hypertrophy; CFCS, cardiofaciocutaneous syndrome; CS, Costello syndrome; EF, ejection fraction; LA, left atrial; LVEDD, left ventricular end‐diastolic diameter; LVOT, left ventricular outflow tract; LVOTO, left ventricular outflow tract obstruction; MLVWT, maximal left ventricular wall thickness; NS, Noonan syndrome; NSML, Noonan syndrome with multiple lentigines; RVH, right ventricular hypertrophy; RVOT, right ventricular outflow tract; RVOTO, right ventricular outflow tract obstruction; SAM, systolic anterior motion of the mitral valve.Bold numbers represent statistically‐significant p values